Overview
Gene (OMIM no.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) |
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Inheritance |
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Signs for LCA |
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Signs for cone-rod dystrophy |
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Visual function | LCA:
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Systemic features |
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | Ocular |
Therapies under research |
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Further information |
Additional information
Most of the reported RPGRIP1 variants cause an LCA phenotype, accounting for 5-6% of total LCA cases.[1] LCA variants tend to cause severely reduced or absent RPGRIP1 protein function (null mutations) while CORD is linked to missense variants that likely retain partial protein function.[1]
References
- Li T. Leber congenital amaurosis caused by mutations in RPGRIP1. Cold Spring Harb Perspect Med. 2014;5(4). doi:10.1101/cshperspect.a017384
- Hanein S, Perrault I, Gerber S, et al. Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat. 2004;23(4):306-317. doi:10.1002/humu.20010
- McKibbin M, Ali M, Mohamed MD, et al. Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan. Arch Ophthalmol. 2010;128(1):107-113
- Khan AO, Abu-Safieh L, Eisenberger T, Bolz HJ, Alkuraya FS. The RPGRIP1-related retinal phenotype in children [published correction appears in Br J Ophthalmol. 2014 Mar;98(3):420]. Br J Ophthalmol. 2013;97(6):760-764
- Jacobson SG, Cideciyan AV, Aleman TS, et al. Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential. Ophthalmology. 2007;114(5):895-898
- Miyamichi D, Nishina S, Hosono K, et al. Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations. Hum Genome Var. 2019;6:32
- Hameed A, Abid A, Aziz A, Ismail M, Mehdi SQ, Khaliq S. Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. J Med Genet. 2003;40(8):616-619. doi:10.1136/jmg.40.8.616