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May 19, 2024American Journal of OphthalmologyOpen Access

Clinical, Ophthalmic, and Genetic Characterization of RPGRIP1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy

Malena Daich Varela Mrunmayi Jeste Thales A. C. de Guimarães Omar A. Mahroo Gavin Arno Andrew R. Webster Michel Michaelides

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Abstract

To present the clinical characteristics, retinal features, natural history, and genetics of RPGRIP1-associated early-onset severe retinal dystrophy (EOSRD)/Leber congenital amaurosis (LCA).

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Cite This Study

Varela et al. (2024) studied this question.

synapsesocial.com/papers/68e696f4b6db64358761d19a https://doi.org/10.1016/j.ajo.2024.05.007

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy2024 · 7 citations
2Unraveling RP1 -Associated Retinal Dystrophies: Comprehensive Genetic, Clinical, and Disease Progression Analysis in ChinaCohort Study · 2026
3A survey of genotypes associated with Leber congenital amaurosis and early-onset severe retinal degeneration identified in a Singaporean patient cohort2025 · 1 citations
4A Mild Form of RPE65-Associated Retinopathy2024
5Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German CohortRetrospective Study · 2023 · 12 citations

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Retinal Dystrophies Associated with Mutations in the RP1 Gene. Genotype-Phenotype Correlations.2024
Genetics and phenotypes of <i>RPE65</i> mutations in inherited retinal degeneration: A study from a tertiary eye care center in Brazil2025
Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences2024

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