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Retinitis pigmentosa 4(RP4)

MedGen UID:
462351
Concept ID:
C3151001
Disease or Syndrome
Synonyms: RETINITIS PIGMENTOSA, RHODOPSIN-RELATED; RP 4; RP4
 
Gene (location): RHO (3q22.1)
 
Monarch Initiative: MONDO:0013395
OMIM®: 613731

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene. [from MONDO]

Clinical features

From HPO
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Blindness
MedGen UID:
99138
Concept ID:
C0456909
Disease or Syndrome
Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation.
Abnormal electroretinogram
MedGen UID:
96908
Concept ID:
C0476397
Finding
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
Retinal atrophy
MedGen UID:
101075
Concept ID:
C0521694
Disease or Syndrome
Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
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).
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
Visual field defect
MedGen UID:
854603
Concept ID:
C3887875
Finding
An absolute or relative reduction in the extent of the normal field of vision.
Rod-cone dystrophy
MedGen UID:
1632921
Concept ID:
C4551714
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
Pigmentary retinopathy
MedGen UID:
1643295
Concept ID:
C4551715
Disease or Syndrome
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

Recent clinical studies

Etiology

Parfitt DA, Aguila M, McCulley CH, Bevilacqua D, Mendes HF, Athanasiou D, Novoselov SS, Kanuga N, Munro PM, Coffey PJ, Kalmar B, Greensmith L, Cheetham ME
Cell Death Dis 2014 May 22;5(5):e1236. doi: 10.1038/cddis.2014.214. PMID: 24853414Free PMC Article
Robson AG, Lenassi E, Saihan Z, Luong VA, Fitzke FW, Holder GE, Webster AR
Invest Ophthalmol Vis Sci 2012 Sep 14;53(10):6187-95. doi: 10.1167/iovs.12-10195. PMID: 22899761
Hayashi K, Hirata A, Hayashi H
Ophthalmology 2007 May;114(5):969-75. Epub 2007 Feb 23 doi: 10.1016/j.ophtha.2006.09.017. PMID: 17320961

Diagnosis

Huang L, Lai Y, Sun L, Li S, Ding X
Retina 2024 Jan 1;44(1):117-126. doi: 10.1097/IAE.0000000000003934. PMID: 38117582
Robson AG, Lenassi E, Saihan Z, Luong VA, Fitzke FW, Holder GE, Webster AR
Invest Ophthalmol Vis Sci 2012 Sep 14;53(10):6187-95. doi: 10.1167/iovs.12-10195. PMID: 22899761
Bakhshaee M, Banaee T, Ghasemi MM, Nourizadeh N, Shojaee B, Shahriari S, Tayarani HR
Eur Arch Otorhinolaryngol 2009 Jun;266(6):823-5. Epub 2008 Oct 7 doi: 10.1007/s00405-008-0821-7. PMID: 18839196
Yonemura D, Kawasaki K, Madachi-Yamamoto S
Doc Ophthalmol 1984 May 30;57(3):163-73. PMID: 6432505

Prognosis

Islam MS, Mia MAK, Rahman MS, Arefin MS, Dhar PK, Koshiba T
BMC Bioinformatics 2021 Sep 11;22(1):435. doi: 10.1186/s12859-021-04341-y. PMID: 34511072Free PMC Article
Gragg M, Kim TG, Howell S, Park PS
Biochim Biophys Acta 2016 Aug;1858(8):1850-9. Epub 2016 Apr 23 doi: 10.1016/j.bbamem.2016.04.013. PMID: 27117643Free PMC Article
Robson AG, Lenassi E, Saihan Z, Luong VA, Fitzke FW, Holder GE, Webster AR
Invest Ophthalmol Vis Sci 2012 Sep 14;53(10):6187-95. doi: 10.1167/iovs.12-10195. PMID: 22899761

Clinical prediction guides

Islam MS, Mia MAK, Rahman MS, Arefin MS, Dhar PK, Koshiba T
BMC Bioinformatics 2021 Sep 11;22(1):435. doi: 10.1186/s12859-021-04341-y. PMID: 34511072Free PMC Article
Gragg M, Kim TG, Howell S, Park PS
Biochim Biophys Acta 2016 Aug;1858(8):1850-9. Epub 2016 Apr 23 doi: 10.1016/j.bbamem.2016.04.013. PMID: 27117643Free PMC Article

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