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Article

A novel c.1937T>C (p.Leu646Pro) missense mutation in a patient with Leber congenital amaurosis.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Feb 2022

Kaur Savleen, Sukhija Jaspreet, Kaur Anupriya, Srivastava Priyanka, Katoch Deeksha, Singh Simar Rajan, Chaudhary Kiran

Abstract excerpt

Over 21 genes have been associated with the inherited retinal dystrophy, Leber congenital amaurosis (LCA). A comprehensive genotype-phenotype correlation in such heterogenous cases helps guide further genetic studies and therapies. We report 2 children (10-month-old girl and an 8-month-old boy) who presented with low vision in the first year of life. Both patients manifested nystagmus, sluggish pupillary...

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Identifiers

PMID: 35101627
DOI: 10.1016/j.jaapos.2021.08.300

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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