U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Bone spicule pigmentation of the retina

MedGen UID:
323029
Concept ID:
C1836926
Finding
Synonyms: Bone spicule pigmentation of retina; Fundus with peripheral 'bony spicules'; Retinal 'bone corpuscle' pigmentation
 
HPO: HP:0007737

Definition

Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBone spicule pigmentation of the retina

Conditions with this feature

Choroideremia
MedGen UID:
944
Concept ID:
C0008525
Disease or Syndrome
Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in heterozygous (carrier) females. Typically, symptoms in affected males evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Although carrier females are generally asymptomatic, signs of chorioretinal degeneration can be reliably observed with fundus autofluorescence imaging, and – after age 25 years – with careful fundus examination.
Retinitis pigmentosa 1
MedGen UID:
67395
Concept ID:
C0220701
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene.
Cohen syndrome
MedGen UID:
78539
Concept ID:
C0265223
Congenital Abnormality
Cohen syndrome is characterized by failure to thrive in infancy and childhood; truncal obesity in the teen years; early-onset hypotonia and developmental delays; microcephaly developing during the first year of life; moderate to profound psychomotor retardation; progressive retinochoroidal dystrophy and high myopia; neutropenia in many with recurrent infections and aphthous ulcers in some; a cheerful disposition; joint hypermobility; and characteristic facial features.
Retinitis pigmentosa 28
MedGen UID:
244030
Concept ID:
C1419614
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene.
Retinitis pigmentosa 17
MedGen UID:
322153
Concept ID:
C1833245
Disease or Syndrome
Retinitis pigmentosa-17 (RP17) is characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression. Many affected individuals have preserved central vision and acuity until the sixth or seventh decades of life (de Bruijn et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Retinitis pigmentosa 27
MedGen UID:
320323
Concept ID:
C1834329
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene.
Retinitis pigmentosa 33
MedGen UID:
332080
Concept ID:
C1835895
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene.
Retinitis pigmentosa 32
MedGen UID:
322781
Concept ID:
C1835927
Disease or Syndrome
A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3.
Posterior column ataxia-retinitis pigmentosa syndrome
MedGen UID:
324636
Concept ID:
C1836916
Disease or Syndrome
Posterior column ataxia with retinitis pigmentosa is an autosomal recessive neurologic disorder characterized by childhood-onset retinitis pigmentosa and later onset of gait ataxia due to sensory loss (summary by Ishiura et al., 2011).
Leber congenital amaurosis 9
MedGen UID:
325277
Concept ID:
C1837873
Disease or Syndrome
Early-onset neurodegeneration in the human retina can lead to Leber congenital amaurosis (LCA), the most severe human form of inherited photoreceptor-neuron degeneration resulting in congenital blindness, with an incidence of approximately 1 in 80,000 (summary by Koenekoop et al., 2012). NMNAT1 mutations have been observed to cause severe and rapidly progressive macular degeneration, leading to severe central atrophy with an appearance of congenital macular coloboma in the neonatal period, as well as an unusual early-onset atrophy of the optic nerve (Perrault et al., 2012). Some patients present with later onset and milder phenotype than typical LCA (Kumaran et al., 2021). For a general discussion of the phenotypic and genetic heterogeneity in Leber congenital amaurosis, see LCA1 (204000).
Retinitis pigmentosa 11
MedGen UID:
325055
Concept ID:
C1838601
Disease or Syndrome
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies characterized by a progressive degeneration of photoreceptors, eventually resulting in severe visual impairment. For a discussion of genetic heterogeneity of RP, see 268000.
Retinitis pigmentosa 14
MedGen UID:
325056
Concept ID:
C1838603
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene.
Retinitis pigmentosa 12
MedGen UID:
374019
Concept ID:
C1838647
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene.
Retinitis pigmentosa 13
MedGen UID:
325486
Concept ID:
C1838702
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene.
Retinitis pigmentosa 30
MedGen UID:
334614
Concept ID:
C1842816
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene.
Retinitis pigmentosa 3
MedGen UID:
336999
Concept ID:
C1845667
Disease or Syndrome
X-linked retinitis pigmentosa (XLRP) is a severe form of inherited retinal degeneration that primarily affects the rod photoreceptors (Demirci et al., 2002). It typically causes an early-onset night blindness and loss of peripheral vision, often causing patients to become legally blind by the age of 30 to 40 years. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe RP (Jin et al., 2007). Mutation in the RPGR gene is believed to account for approximately 70% of XLRP (Vervoort et al., 2000). For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Cone-rod dystrophy 10
MedGen UID:
337598
Concept ID:
C1846529
Disease or Syndrome
Cone-rod dystrophy-10 (CORD10) is characterized by progressive loss of visual acuity and color vision, followed by night blindness and loss of peripheral vision. Patients may experience photophobia and epiphora in bright light (Abid et al., 2006). Mutation in SEMA4A can also cause a form of retinitis pigmentosa (RP35; 610282). For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970.
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
MedGen UID:
376565
Concept ID:
C1849333
Disease or Syndrome
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction (RCDFRD) is characterized by onset of hearing impairment and reduced vision within the first 5 years of life. Renal dysfunction results in rickets-like skeletal changes, and death may occur in childhood or young adulthood due to renal failure (Beighton et al., 1993).
Congenital stationary night blindness 1B
MedGen UID:
342484
Concept ID:
C1850362
Disease or Syndrome
Autosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus).\n\nThe vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time.
Bardet-Biedl syndrome 9
MedGen UID:
347182
Concept ID:
C1859567
Disease or Syndrome
BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and mental retardation (Abu-Safieh et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).
Retinitis pigmentosa 25
MedGen UID:
350427
Concept ID:
C1864446
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene.
Retinitis pigmentosa 36
MedGen UID:
351175
Concept ID:
C1864621
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene.
Congenital stationary night blindness autosomal dominant 1
MedGen UID:
355852
Concept ID:
C1864869
Disease or Syndrome
Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene.
Cone-rod dystrophy 6
MedGen UID:
400963
Concept ID:
C1866293
Disease or Syndrome
There are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nThe first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).\n\nCone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.
Retinitis pigmentosa 19
MedGen UID:
400996
Concept ID:
C1866422
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene.
Dominant pericentral pigmentary retinopathy
MedGen UID:
357237
Concept ID:
C1867261
Disease or Syndrome
A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.
Retinitis pigmentosa 10
MedGen UID:
357247
Concept ID:
C1867299
Disease or Syndrome
Retinitis pigmentosa-10 (RP10) is characterized in most patients by early onset and rapid progression of ocular symptoms, beginning with night blindness in childhood, followed by visual field constriction. Some patients experience an eventual reduction in visual acuity. Funduscopy shows typical changes of RP, including optic disc pallor, retinal vascular attenuation, and bone-spicule pattern of pigmentary deposits in the retinal midperiphery. Electroretinography demonstrates equal reduction in rod and cone responses (Jordan et al., 1993; Bowne et al., 2002; Bowne et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Retinitis pigmentosa 9
MedGen UID:
356743
Concept ID:
C1867300
Disease or Syndrome
Autosomal dominant retinitis pigmentosa (ADRP) is characterized by a typical fundus appearance, narrowed retinal vessels, and changes in the electrophysiological responses of the eye. Early signs are night blindness and constriction of the visual fields with a variable ages of onset (summary by Jay et al., 1992).
Pigmented paravenous retinochoroidal atrophy
MedGen UID:
401413
Concept ID:
C1868310
Disease or Syndrome
Pigmented paravenous chorioretinal atrophy is a stationary disease of the ocular fundus in which bone corpuscle pigmentation is seen in a paravenous distribution. Patients are usually asymptomatic; diagnosis is based on the characteristic fundus appearance. Most cases have been reported in males (summary by Traboulsi and Maumenee, 1986).
Isolated microphthalmia 5
MedGen UID:
410021
Concept ID:
C1970236
Disease or Syndrome
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.
Bardet-Biedl syndrome 13
MedGen UID:
393032
Concept ID:
C2673873
Disease or Syndrome
BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa (Leitch et al., 2008; Xing et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).
Leber congenital amaurosis 13
MedGen UID:
382544
Concept ID:
C2675186
Disease or Syndrome
Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.\n\nLeber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.\n\nAt least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.\n\nA specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.\n\nIn very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.
Retinitis pigmentosa 41
MedGen UID:
383126
Concept ID:
C2677516
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene.
Bardet-Biedl syndrome 1
MedGen UID:
422452
Concept ID:
C2936862
Disease or Syndrome
Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl Syndrome BBS2 (615981) is caused by mutation in a gene on 16q13 (606151); BBS3 (600151), by mutation in the ARL6 gene on 3q11 (608845); BBS4 (615982), by mutation in a gene on 15q22 (600374); BBS5 (615983), by mutation in a gene on 2q31 (603650); BBS6 (605231), by mutation in the MKKS gene on 20p12 (604896); BBS7 (615984), by mutation in a gene on 4q27 (607590); BBS8 (615985), by mutation in the TTC8 gene on 14q32 (608132); BBS9 (615986), by mutation in a gene on 7p14 (607968); BBS10 (615987), by mutation in a gene on 12q21 (610148); BBS11 (615988), by mutation in the TRIM32 gene on 9q33 (602290); BBS12 (615989), by mutation in a gene on 4q27 (610683); BBS13 (615990), by mutation in the MKS1 gene (609883) on 17q23; BBS14 (615991), by mutation in the CEP290 gene (610142) on 12q21, BBS15 (615992), by mutation in the WDPCP gene (613580) on 2p15; BBS16 (615993), by mutation in the SDCCAG8 gene (613524) on 1q43; BBS17 (615994), by mutation in the LZTFL1 gene (606568) on 3p21; BBS18 (615995), by mutation in the BBIP1 gene (613605) on 10q25; BBS19 (615996), by mutation in the IFT27 gene (615870) on 22q12; BBS20 (619471), by mutation in the IFT172 gene (607386) on 9p21; BBS21 (617406), by mutation in the CFAP418 gene (614477) on 8q22; and BBS22 (617119), by mutation in the IFT74 gene (608040) on 9p21. The CCDC28B gene (610162) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67; 609884), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes. Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene (608845.0002) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene (209901.0001). Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (613464), caused by TTC8 mutation, and RP55 (613575), caused by ARL6 mutation.
Retinitis pigmentosa 54
MedGen UID:
462041
Concept ID:
C3150691
Disease or Syndrome
Retinitis pigmentosa-54 (RP54) is characterized by typical signs of RP, including poor night vision and peripheral field loss, retinal bone spicule-type pigment deposits, pale optic discs, and markedly reduced or extinguished responses on electroretinography. Atypical features that have been observed include early degeneration of the cone photoreceptor system with macular abnormalities, and ring scotoma on the visual field (Collin et al., 2010). Patients may exhibit an early-onset form of cone-rod dystrophy (CORD23), with central vision loss and ring scotoma around the fovea that progresses to marked chorioretinal atrophy in the macular area (Serra et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. For a general phenotypic description and discussion of genetic heterogeneity of cone-rod dystrophy, see CORD2 (120970).
Retinitis pigmentosa 51
MedGen UID:
462065
Concept ID:
C3150715
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene.
Retinitis pigmentosa 56
MedGen UID:
462169
Concept ID:
C3150819
Disease or Syndrome
Retinitis pigmentosa-56 (RP56) is an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity (Bandah-Rozenfeld et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Retinitis pigmentosa 57
MedGen UID:
462171
Concept ID:
C3150821
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene.
Retinitis pigmentosa 58
MedGen UID:
462229
Concept ID:
C3150879
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene.
Retinitis pigmentosa 4
MedGen UID:
462351
Concept ID:
C3151001
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene.
Retinitis pigmentosa 49
MedGen UID:
462409
Concept ID:
C3151059
Disease or Syndrome
Retinitis pigmentosa-49 (RP49) is characterized by onset of night blindness in childhood, followed by progressive loss of visual fields and reduced visual acuity. Typical fundus features are present, including pale optic disc, attenuated vasculature, and pigment deposits in the midperiphery (Zhang et al., 2004; Katagiri et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Retinitis pigmentosa 45
MedGen UID:
462416
Concept ID:
C3151066
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene.
Retinitis pigmentosa 40
MedGen UID:
462457
Concept ID:
C3151107
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene.
Retinitis pigmentosa 39
MedGen UID:
462488
Concept ID:
C3151138
Disease or Syndrome
Retinitis pigmentosa-39 (RP39) is characterized by the typical features of RP, including constriction of visual fields and reduced vision, with the fundus showing bone-spicule pigment deposition and attenuation of retinal vessels (Kaiserman et al., 2007; Jung et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000.
Retinitis pigmentosa 43
MedGen UID:
462489
Concept ID:
C3151139
Disease or Syndrome
Retinitis pigmentosa-43 (RP43) is characterized by night blindness in the first decade of life, with progressive loss of peripheral visual fields and reduction in visual acuity. Examination reveals typical features of RP, including waxy pallor of optic disc, attenuated retinal vessels, and bone-spicule pigment in midperipheral retina. Macular edema and/or atrophy has been observed in some patients. Electroretinographic responses are markedly reduced or absent (summary by Huang et al., 1995 and Corton et al., 2010).
Retinitis pigmentosa 60
MedGen UID:
462784
Concept ID:
C3151434
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene.
Retinitis pigmentosa 61
MedGen UID:
481671
Concept ID:
C3280041
Disease or Syndrome
Retinitis pigmentosa-61 (RP61) is an autosomal recessive photoreceptor degenerative disorder initially characterized by impairment of night vision and midperipheral visual field loss. Bone spicule pigmentation in the retinal periphery is present, and loss of rod function is detected by electroretinography (ERG) (Khan et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000.
Retinitis pigmentosa 62
MedGen UID:
481672
Concept ID:
C3280042
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene.
Cone-rod dystrophy 16
MedGen UID:
482675
Concept ID:
C3281045
Disease or Syndrome
Cone-rod dystrophy (CORD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. RP is characterized initially by rod photoreceptor dysfunction, giving rise to night blindness, which is followed by progressive rod and cone photoreceptor dystrophy, resulting in midperipheral vision loss, tunnel vision, and sometimes blindness. In contrast to RP, CORD is characterized by a primary loss of cone photoreceptors and subsequent or simultaneous loss of rod photoreceptors. The disease in most cases becomes apparent during primary-school years, and symptoms include photoaversion, decrease in visual acuity with or without nystagmus, color vision defects, and decreased sensitivity of the central visual field. Because rods are also involved, night blindness and peripheral vision loss can occur. The diagnosis of CORD is mainly based on electroretinogram (ERG) recordings, in which cone responses are more severely reduced than, or equally as reduced as rod responses (summary by Estrada-Cuzcano et al., 2012).
Cone-rod dystrophy 2
MedGen UID:
483485
Concept ID:
C3489532
Disease or Syndrome
Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina (Moore, 1992). In many families, perhaps a majority, central and peripheral chorioretinal atrophy is not found (Tzekov, 1998). Genetic Heterogeneity of Autosomal Cone-Rod Dystrophy There are several other autosomal forms of CORD for which the molecular basis is known. CORD3 (604116) is caused by mutation in the ABCA4 gene (601691) on chromosome 1p22. CORD5 (600977) is caused by mutation in the PITPNM3 gene (608921) on chromosome 17p13. CORD6 (601777) is caused by mutation in the GUCY2D gene (600179) on chromosome 17p13.1. CORD9 (612775) is caused by mutation in the ADAM9 gene (602713) on chromosome 8p11. CORD10 (610283) is caused by mutation in the SEMA4A gene (607292) on chromosome 1q22. CORD11 (610381) is caused by mutation in the RAXL1 gene (610362) on chromosome 19p13. CORD12 (612657) is caused by mutation in the PROM1 gene (604365) on chromosome 4p15. CORD13 (608194) is caused by mutation in the RPGRIP1 gene (605446) on chromosome 14q11. CORD14 (see 602093) is caused by mutation in the GUCA1A gene (600364) on chromosome 6p21. CORD15 (613660) is caused by mutation in the CDHR1 gene (609502) on chromosome 10q23. CORD16 (614500) is caused by mutation in the C8ORF37 gene (614477) on chromosome 8q22. CORD18 (615374) is caused by mutation in the RAB28 gene (612994) on chromosome 4p15. CORD19 (615860) is caused by mutation in the TTLL5 gene (612268) on chromosome 14q24. CORD20 (615973) is caused by mutation in the POC1B gene (614784) on chromosome 12q21. CORD21 (616502) is caused by mutation in the DRAM2 gene (613360) on chromosome 1p13. CORD22 (619531) is caused by mutation in the TLCD3B gene (615175) on chromosome 16p11. CORD23 (see 613428) is caused by mutation in the C2ORF71 gene (PCARE; 613425) on chromosome 2p23. CORD24 (620342) is caused by mutation in the UNC119 gene (604011) on chromosome 17q11. A diagnosis of CORD was made in an individual with a mutation in the AIPL1 gene (604392.0004) on chromosome 17p13.1, as well as in an individual with a mutation in the UNC119 gene (604011.0001) on chromosome 17q11.2. Other mapped loci for autosomal CORD include CORD1 (600624) on chromosome 18q21.1-q21.3; CORD7 (603649) on chromosome 6q14; CORD8 (605549) on chromosome 1q12-q24; and CORD17 (615163) on chromosome 10q26. For a discussion of X-linked forms of cone-rod dystrophy, see CORDX1 (304020).
Jalili syndrome
MedGen UID:
501210
Concept ID:
C3495589
Disease or Syndrome
Jalili syndrome is an autosomal recessive disorder consisting of cone-rod dystrophy and amelogenesis imperfecta. Significant visual impairment with nystagmus and photophobia is present from infancy or early childhood and progresses with age. Enamel of primary and secondary dentitions is grossly abnormal and prone to rapid posteruptive failure, in part reflecting hypomineralization (summary by Parry et al., 2009).
Bardet-Biedl syndrome 17
MedGen UID:
811538
Concept ID:
C3714980
Disease or Syndrome
Bardet-Biedl syndrome-17 (BBS17) is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17, mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).
Retinitis pigmentosa 66
MedGen UID:
811638
Concept ID:
C3715216
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene.
Retinitis pigmentosa 68
MedGen UID:
816710
Concept ID:
C3810380
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene.
Cone-rod dystrophy 20
MedGen UID:
863293
Concept ID:
C4014856
Disease or Syndrome
Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.\n\nThe first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).\n\nThere are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
MedGen UID:
863679
Concept ID:
C4015242
Disease or Syndrome
A rare genetic syndromic rod-cone dystrophy disorder with characteristics of psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalised rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium).
Retinitis pigmentosa 73
MedGen UID:
907690
Concept ID:
C4225287
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene.
Retinitis pigmentosa 72
MedGen UID:
895867
Concept ID:
C4225315
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene.
Retinitis pigmentosa 77
MedGen UID:
934593
Concept ID:
C4310626
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene.
Retinitis pigmentosa 76
MedGen UID:
934671
Concept ID:
C4310704
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene.
Retinitis pigmentosa 75
MedGen UID:
934726
Concept ID:
C4310759
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene.
Retinitis pigmentosa 79
MedGen UID:
1386200
Concept ID:
C4479526
Disease or Syndrome
Retinal dystrophy with or without macular staphyloma
MedGen UID:
1381980
Concept ID:
C4479651
Disease or Syndrome
Retinitis pigmentosa 80
MedGen UID:
1619674
Concept ID:
C4540439
Disease or Syndrome
Retinitis pigmentosa 81
MedGen UID:
1637738
Concept ID:
C4693443
Disease or Syndrome
Usher syndrome, type 4
MedGen UID:
1648315
Concept ID:
C4748364
Disease or Syndrome
An atypical form of Usher syndrome, here designated type IV (USH4), is an autosomal recessive disorder characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement (summary by Khateb et al., 2018). For a discussion of genetic heterogeneity of Usher syndrome, see 276900.
Retinitis pigmentosa 83
MedGen UID:
1648404
Concept ID:
C4748536
Disease or Syndrome
Retinitis pigmentosa-83 (RP83) is characterized by onset of night blindness in the first decade of life, with decreased central vision in the second decade of life in association with retinal degeneration. The retinal dystrophy is associated with cataract, and macular edema has also been reported in some patients (Holtan et al., 2019).
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
MedGen UID:
1648358
Concept ID:
C4748658
Disease or Syndrome
Intellectual developmental disorder and retinitis pigmentosa (IDDRP) is characterized by mild to moderate intellectual disability and typical features of RP. Patients experience reduced night vision, constriction of visual fields, and reduced visual acuity; optic disc pallor, attenuated retinal blood vessels, and bone-spicule pigmentation are seen on funduscopy. Attention-deficit/hyperactivity disorder is observed in some patients (Tatour et al., 2017).
Retinitis pigmentosa 84
MedGen UID:
1648352
Concept ID:
C4748725
Disease or Syndrome
Retinitis pigmentosa 86
MedGen UID:
1684789
Concept ID:
C5231428
Disease or Syndrome
Retinitis pigmentosa-86 (RP86) is characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity, with typical findings of RP on fundus examination, including attenuated retinal vessels, waxy pallor of the optic disc, and bone spicule-like pigmentation (de Bruijn et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Retinitis pigmentosa 87 with choroidal involvement
MedGen UID:
1684667
Concept ID:
C5231465
Disease or Syndrome
Retinitis pigmentosa-87 with choroidal involvement (RP87) is characterized by a slowly progressive visual disturbance, including night blindness and reduced central and peripheral vision, accompanied by extensive choroid/retinal atrophy that mimics certain aspects of choroideremia. Disease severity and age of onset are variable, and some carriers are unaffected (Hull et al., 2016; Li et al., 2019). For a discussion of genetic heterogeneity of RP, see 268000.
Retinitis pigmentosa 88
MedGen UID:
1720448
Concept ID:
C5394208
Disease or Syndrome
Retinitis pigmentosa-88 (RP88) is characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity. Examination shows typical findings of RP, including attenuated retinal vessels, pale optic discs, and pigment deposits in the peripheral retinal pigment epithelium (Zobor et al., 2018; Hu et al., 2019; Albarry et al., 2019). For a discussion of genetic heterogeneity of RP, see 268000.
Liberfarb syndrome
MedGen UID:
1709796
Concept ID:
C5394404
Disease or Syndrome
Liberfarb syndrome is a progressive disorder involving connective tissue, bone, retina, ear, and brain. Patients exhibit severe short stature and scoliosis with thoracic kyphosis and lumbar hyperlordosis. Severe joint laxity results in dislocations of elbows, hips, and knees. Eye findings are consistent with early-onset retinal degeneration, and there is moderate to severe early-onset hearing loss. Microcephaly is apparent by school age, and patients exhibit developmental delay and intellectual deficits (Peter et al., 2019). Clinical variability has been observed, with some patients presenting differences in the severity and location of skeletal dysplasia involvement as well as variation in other features of the syndrome (Girisha et al., 2019; Zhao et al., 2019).
Retinitis pigmentosa 90
MedGen UID:
1733837
Concept ID:
C5436588
Disease or Syndrome
Retinitis pigmentosa-90 (RP90) is characterized by early-onset night blindness, within the first decade of life. Patients exhibit other typical features of RP, including retinal vessel attenuation, optic disc pallor, and retinal pigment epithelium (RPE) atrophy and pigmentation abnormalities. Macular pseudocoloboma and cystoid macular edema have also been observed (Pierrache et al., 2017). For a discussion of genetic heterogeneity of RP, see 268000.
Retinitis pigmentosa 95
MedGen UID:
1824017
Concept ID:
C5774244
Disease or Syndrome
Retinitis pigmentosa-95 (RP95) is characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation. Patients experience night blindness, and visual fields are restricted to approximately 10 degrees, with visual acuity ranging from normal to hand movement only. Age at onset of symptoms varies from childhood to the fifth decade of life (Van de Sompele et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Retinitis pigmentosa 96
MedGen UID:
1824076
Concept ID:
C5774303
Disease or Syndrome
Retinitis pigmentosa-96 (RP96) is characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade. Funduscopy shows the typical features of RP, including bone-spicule pigmentation, attenuation of retinal vasculature, optic disc pallor, and cystic macular edema. Unlike patients with biallelic mutations in the SAG gene, they do not show the golden sheen of the fundus that is typical of Oguchi disease (Sullivan et al., 2017). For a general phenotypic description and discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.

Professional guidelines

PubMed

Daniels AB, Sandberg MA, Chen J, Weigel-DiFranco C, Fielding Hejtmancic J, Berson EL
Arch Ophthalmol 2012 Jul;130(7):901-7. doi: 10.1001/archophthalmol.2012.89. PMID: 22410627

Recent clinical studies

Etiology

Wang Y, Sun W, Xiao X, Li S, Jia X, Wang P, Zhang Q
Am J Ophthalmol 2021 Mar;223:160-168. Epub 2020 Oct 24 doi: 10.1016/j.ajo.2020.10.006. PMID: 33342761
Karali M, Testa F, Brunetti-Pierri R, Di Iorio V, Pizzo M, Melillo P, Barillari MR, Torella A, Musacchia F, D'Angelo L, Banfi S, Simonelli F
Int J Mol Sci 2019 Dec 20;21(1) doi: 10.3390/ijms21010086. PMID: 31877679Free PMC Article
Bhatti MT
Curr Neurol Neurosci Rep 2006 Sep;6(5):403-13. doi: 10.1007/s11910-996-0021-z. PMID: 16928351
Van Woerkom C, Ferrucci S
Optometry 2005 May;76(5):309-17. doi: 10.1016/s1529-1839(05)70314-6. PMID: 15884421
Atchaneeyasakul LO, Linck L, Weleber RG
Ophthalmic Genet 1998 Mar;19(1):39-48. doi: 10.1076/opge.19.1.39.2178. PMID: 9587928

Diagnosis

Wang Y, Wang P, Li S, Ouyang J, Jia X, Xiao X, Yang J, Li X, Sun W, Zhang Q
Invest Ophthalmol Vis Sci 2021 May 3;62(6):19. doi: 10.1167/iovs.62.6.19. PMID: 34008001Free PMC Article
Wang Y, Sun W, Xiao X, Li S, Jia X, Wang P, Zhang Q
Am J Ophthalmol 2021 Mar;223:160-168. Epub 2020 Oct 24 doi: 10.1016/j.ajo.2020.10.006. PMID: 33342761
Bhatti MT
Curr Neurol Neurosci Rep 2006 Sep;6(5):403-13. doi: 10.1007/s11910-996-0021-z. PMID: 16928351
Van Woerkom C, Ferrucci S
Optometry 2005 May;76(5):309-17. doi: 10.1016/s1529-1839(05)70314-6. PMID: 15884421
Atchaneeyasakul LO, Linck L, Weleber RG
Ophthalmic Genet 1998 Mar;19(1):39-48. doi: 10.1076/opge.19.1.39.2178. PMID: 9587928

Therapy

Figueiredo R, Morais Sarmento T, Garrido J, Ramalho A
BMJ Case Rep 2019 Aug 10;12(8) doi: 10.1136/bcr-2019-230633. PMID: 31401582Free PMC Article
Montoya Delgado MJ, Ríos Nequis G, Ramírez Estudillo A
Arch Soc Esp Oftalmol (Engl Ed) 2019 Sep;94(9):465-468. Epub 2019 May 27 doi: 10.1016/j.oftal.2019.04.007. PMID: 31147091
Enzsoly A, Kammerer K, Nemeth J, Schneider M
BMC Ophthalmol 2015 Mar 29;15:32. doi: 10.1186/s12886-015-0020-4. PMID: 25885440Free PMC Article
Villa AM, Anderson SF, Abundo RE
Optom Vis Sci 1997 Mar;74(3):132-7. doi: 10.1097/00006324-199703000-00022. PMID: 9159801

Prognosis

van Huet RA, Collin RW, Siemiatkowska AM, Klaver CC, Hoyng CB, Simonelli F, Khan MI, Qamar R, Banin E, Cremers FP, Theelen T, den Hollander AI, van den Born LI, Klevering BJ
Invest Ophthalmol Vis Sci 2014 May 29;55(6):3939-53. doi: 10.1167/iovs.14-14129. PMID: 24876279
Weller JM, Michelson G, Juenemann AG
BMJ Case Rep 2014 Feb 10;2014 doi: 10.1136/bcr-2013-202236. PMID: 24515232Free PMC Article
Jaissle GB, May CA, van de Pavert SA, Wenzel A, Claes-May E, Giessl A, Szurman P, Wolfrum U, Wijnholds J, Fischer MD, Humphries P, Seeliger MW
Graefes Arch Clin Exp Ophthalmol 2010 Aug;248(8):1063-70. Epub 2009 Dec 12 doi: 10.1007/s00417-009-1253-9. PMID: 20012642
Van Woerkom C, Ferrucci S
Optometry 2005 May;76(5):309-17. doi: 10.1016/s1529-1839(05)70314-6. PMID: 15884421
Riise R, Andréasson S, Wright AF, Tornqvist K
Acta Ophthalmol Scand 1996 Dec;74(6):612-7. doi: 10.1111/j.1600-0420.1996.tb00746.x. PMID: 9017053

Clinical prediction guides

Wang Y, Wang P, Li S, Ouyang J, Jia X, Xiao X, Yang J, Li X, Sun W, Zhang Q
Invest Ophthalmol Vis Sci 2021 May 3;62(6):19. doi: 10.1167/iovs.62.6.19. PMID: 34008001Free PMC Article
Hayashi T, Mizobuchi K, Kameya S, Yoshitake K, Iwata T, Nakano T
Doc Ophthalmol 2021 Aug;143(1):107-114. Epub 2021 Feb 21 doi: 10.1007/s10633-021-09826-y. PMID: 33611760
Karali M, Testa F, Brunetti-Pierri R, Di Iorio V, Pizzo M, Melillo P, Barillari MR, Torella A, Musacchia F, D'Angelo L, Banfi S, Simonelli F
Int J Mol Sci 2019 Dec 20;21(1) doi: 10.3390/ijms21010086. PMID: 31877679Free PMC Article
van Huet RA, Collin RW, Siemiatkowska AM, Klaver CC, Hoyng CB, Simonelli F, Khan MI, Qamar R, Banin E, Cremers FP, Theelen T, den Hollander AI, van den Born LI, Klevering BJ
Invest Ophthalmol Vis Sci 2014 May 29;55(6):3939-53. doi: 10.1167/iovs.14-14129. PMID: 24876279
Li ZY, Possin DE, Milam AH
Ophthalmology 1995 May;102(5):805-16. doi: 10.1016/s0161-6420(95)30953-0. PMID: 7777280

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...