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Jalili syndrome

MedGen UID:
501210
Concept ID:
C3495589
Disease or Syndrome
Synonyms: Cone-rod dystrophy amelogenesis imperfecta; CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA; Cone-rod dystrophy with amelogenesis imperfecta
SNOMED CT: Jalili syndrome (707608003); Amelogenesis imperfecta co-occurrent with cone rod dystrophy (707608003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): CNNM4 (2q11.2)
 
Monarch Initiative: MONDO:0009007
OMIM®: 217080
Orphanet: ORPHA1873

Definition

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). [from OMIM]

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Enamel agenesis
MedGen UID:
1778102
Concept ID:
C5442008
Disease or Syndrome
Complete or almost complete absence of enamel.
Carious teeth
MedGen UID:
8288
Concept ID:
C0011334
Disease or Syndrome
Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
Yellow-brown discoloration of the teeth
MedGen UID:
350813
Concept ID:
C1863008
Finding
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Scotoma
MedGen UID:
19902
Concept ID:
C0036454
Finding
A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.
Pendular nystagmus
MedGen UID:
78770
Concept ID:
C0271388
Disease or Syndrome
Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.
Macular atrophy
MedGen UID:
140841
Concept ID:
C0423421
Finding
Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
Optic disc pallor
MedGen UID:
108218
Concept ID:
C0554970
Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Bone spicule pigmentation of the retina
MedGen UID:
323029
Concept ID:
C1836926
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
Hyperopia, high
MedGen UID:
341009
Concept ID:
C1855925
Finding
A severe form of hypermetropia with over +5.00 diopters.
Retinal pigment epithelial mottling
MedGen UID:
347513
Concept ID:
C1857644
Finding
Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Cone-rod dystrophy
MedGen UID:
896366
Concept ID:
C4085590
Disease or Syndrome
The 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.\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.
Monochromacy
MedGen UID:
1684677
Concept ID:
C5201048
Disease or Syndrome
Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVJalili syndrome

Recent clinical studies

Etiology

Hirji N, Bradley PD, Li S, Vincent A, Pennesi ME, Thomas AS, Heon E, Bhan A, Mahroo OA, Robson A, Inglehearn CF, Moore AT, Michaelides M
Am J Ophthalmol 2018 Apr;188:123-130. Epub 2018 Feb 5 doi: 10.1016/j.ajo.2018.01.029. PMID: 29421294Free PMC Article
Li S, Xi Q, Zhang X, Yu D, Li L, Jiang Z, Chen Q, Wang QK, Traboulsi EI
Mol Genet Genomics 2018 Jun;293(3):699-710. Epub 2018 Jan 10 doi: 10.1007/s00438-018-1417-6. PMID: 29322253Free PMC Article
Gómez García I, Oyenarte I, Martínez-Cruz LA
Acta Crystallogr Sect F Struct Biol Cryst Commun 2011 Mar 1;67(Pt 3):349-53. Epub 2011 Feb 23 doi: 10.1107/S1744309110053856. PMID: 21393841Free PMC Article

Diagnosis

Hyde RA, Kratunova E, Park JC, McAnany JJ
Ophthalmic Genet 2022 Apr;43(2):268-276. Epub 2021 Dec 7 doi: 10.1080/13816810.2021.2002916. PMID: 34875963Free PMC Article
Prasov L, Ullah E, Turriff AE, Warner BM, Conley J, Mark PR, Hufnagel RB, Huryn LA
Am J Med Genet A 2020 Mar;182(3):493-497. Epub 2020 Feb 5 doi: 10.1002/ajmg.a.61484. PMID: 32022389Free PMC Article
Daneshmandpour Y, Darvish H, Pashazadeh F, Emamalizadeh B
J Med Genet 2019 Jun;56(6):358-369. Epub 2019 Jan 31 doi: 10.1136/jmedgenet-2018-105716. PMID: 30705057
Hirji N, Bradley PD, Li S, Vincent A, Pennesi ME, Thomas AS, Heon E, Bhan A, Mahroo OA, Robson A, Inglehearn CF, Moore AT, Michaelides M
Am J Ophthalmol 2018 Apr;188:123-130. Epub 2018 Feb 5 doi: 10.1016/j.ajo.2018.01.029. PMID: 29421294Free PMC Article
Jalili IK
Eye (Lond) 2010 Nov;24(11):1659-68. Epub 2010 Aug 13 doi: 10.1038/eye.2010.103. PMID: 20706282

Therapy

Zobor D, Kaufmann DH, Weckerle P, Sauer A, Wissinger B, Wilhelm H, Kohl S
Ophthalmic Genet 2012 Mar;33(1):34-8. Epub 2011 Jul 5 doi: 10.3109/13816810.2011.592178. PMID: 21728811

Prognosis

Daneshmandpour Y, Darvish H, Pashazadeh F, Emamalizadeh B
J Med Genet 2019 Jun;56(6):358-369. Epub 2019 Jan 31 doi: 10.1136/jmedgenet-2018-105716. PMID: 30705057
Hirji N, Bradley PD, Li S, Vincent A, Pennesi ME, Thomas AS, Heon E, Bhan A, Mahroo OA, Robson A, Inglehearn CF, Moore AT, Michaelides M
Am J Ophthalmol 2018 Apr;188:123-130. Epub 2018 Feb 5 doi: 10.1016/j.ajo.2018.01.029. PMID: 29421294Free PMC Article

Clinical prediction guides

Hyde RA, Kratunova E, Park JC, McAnany JJ
Ophthalmic Genet 2022 Apr;43(2):268-276. Epub 2021 Dec 7 doi: 10.1080/13816810.2021.2002916. PMID: 34875963Free PMC Article
Daneshmandpour Y, Darvish H, Pashazadeh F, Emamalizadeh B
J Med Genet 2019 Jun;56(6):358-369. Epub 2019 Jan 31 doi: 10.1136/jmedgenet-2018-105716. PMID: 30705057
Hirji N, Bradley PD, Li S, Vincent A, Pennesi ME, Thomas AS, Heon E, Bhan A, Mahroo OA, Robson A, Inglehearn CF, Moore AT, Michaelides M
Am J Ophthalmol 2018 Apr;188:123-130. Epub 2018 Feb 5 doi: 10.1016/j.ajo.2018.01.029. PMID: 29421294Free PMC Article
Li S, Xi Q, Zhang X, Yu D, Li L, Jiang Z, Chen Q, Wang QK, Traboulsi EI
Mol Genet Genomics 2018 Jun;293(3):699-710. Epub 2018 Jan 10 doi: 10.1007/s00438-018-1417-6. PMID: 29322253Free PMC Article
Jalili IK
Eye (Lond) 2010 Nov;24(11):1659-68. Epub 2010 Aug 13 doi: 10.1038/eye.2010.103. PMID: 20706282

Recent systematic reviews

Daneshmandpour Y, Darvish H, Pashazadeh F, Emamalizadeh B
J Med Genet 2019 Jun;56(6):358-369. Epub 2019 Jan 31 doi: 10.1136/jmedgenet-2018-105716. PMID: 30705057

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