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Retinitis pigmentosa 7(RP7)

MedGen UID:
334168
Concept ID:
C1842475
Disease or Syndrome
Synonyms: RP 7; RP7
 
Genes (locations): PRPH2 (6p21.1); ROM1 (11q12.3)
 
Monarch Initiative: MONDO:0011974
OMIM®: 608133

Definition

A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21. [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.
Constriction of peripheral visual field
MedGen UID:
68613
Concept ID:
C0235095
Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
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.
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
Adult-onset night blindness
MedGen UID:
870346
Concept ID:
C4024790
Disease or Syndrome
Inability to see well at night or in poor light with onset in adulthood.
Chorioretinal atrophy
MedGen UID:
884881
Concept ID:
C4048273
Disease or Syndrome
Atrophy of the choroid and retinal layers of the fundus.
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  

Recent clinical studies

Etiology

Son Y, Kenny TC, Khan A, Birsoy K, Hite RK
Nature 2024 May;629(8012):710-716. Epub 2024 May 1 doi: 10.1038/s41586-024-07374-4. PMID: 38693265Free PMC Article
Ferreira MM, Antunes-Foschini R, Furtado JM
Sci Rep 2022 Feb 18;12(1):2807. doi: 10.1038/s41598-022-06798-0. PMID: 35181704Free PMC Article
Chiou YR, Cheng HC, Wang AG
Ophthalmic Genet 2022 Jun;43(3):409-412. Epub 2022 Jan 11 doi: 10.1080/13816810.2022.2025604. PMID: 35014575
Yahalom C, Macarov M, Lazer-Derbeko G, Altarescu G, Imbar T, Hyman JH, Eldar-Geva T, Blumenfeld A
Ophthalmic Genet 2018 Aug;39(4):450-456. Epub 2018 May 21 doi: 10.1080/13816810.2018.1474368. PMID: 29781739
Zeng LH, Wu DZ, Ma QY, Wu LH
Ophthalmologica 1987;194(1):34-9. doi: 10.1159/000309731. PMID: 3473348

Diagnosis

Chiou YR, Cheng HC, Wang AG
Ophthalmic Genet 2022 Jun;43(3):409-412. Epub 2022 Jan 11 doi: 10.1080/13816810.2022.2025604. PMID: 35014575
Yahalom C, Macarov M, Lazer-Derbeko G, Altarescu G, Imbar T, Hyman JH, Eldar-Geva T, Blumenfeld A
Ophthalmic Genet 2018 Aug;39(4):450-456. Epub 2018 May 21 doi: 10.1080/13816810.2018.1474368. PMID: 29781739
Friedburg C, Serey L, Sharpe LT, Trauzettel-Klosinski S, Zrenner E
Graefes Arch Clin Exp Ophthalmol 1999 Feb;237(2):125-36. doi: 10.1007/s004170050207. PMID: 9987629

Therapy

Hashemi H, Khabazkhoob M, Emamian MH, Shariati M, Fotouhi A
Eye (Lond) 2012 Aug;26(8):1071-7. Epub 2012 May 18 doi: 10.1038/eye.2012.94. PMID: 22595906Free PMC Article
Friedburg C, Serey L, Sharpe LT, Trauzettel-Klosinski S, Zrenner E
Graefes Arch Clin Exp Ophthalmol 1999 Feb;237(2):125-36. doi: 10.1007/s004170050207. PMID: 9987629

Prognosis

Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article
Kelliher C, Kenny D, O'Brien C
Br J Ophthalmol 2006 Mar;90(3):367-71. doi: 10.1136/bjo.2005.075861. PMID: 16488964Free PMC Article
Porta M, Tomalino MG, Santoro F, Ghigo LD, Cairo M, Aimone M, Pietragalla GB, Passera P, Montanaro M, Molinatti GM
Diabet Med 1995 Apr;12(4):355-61. doi: 10.1111/j.1464-5491.1995.tb00492.x. PMID: 7600754

Clinical prediction guides

Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article

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