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Article

Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center.

Indian journal of ophthalmology - 1 May 2025

Upadhyaya Abhishek, Padhy Srikanta Kumar, Teja Nithin, Chattannavar Goura, Dutta Shreya, Pochaboina Venkatesh, Balasubramanian Jeyapoorani, Kannabiran Chitra, Takkar Brijesh, Bhate Manjushree, Jalali Subhadra, Parameswarappa Deepika C

Abstract excerpt

PURPOSE: To assess the clinical phenotypes and genetic mutations in patients with Leber congenital amaurosis (LCA) from a tertiary eye care center in India. DESIGN: Retrospective observational study. METHODS: The study includes patients with a clinical diagnosis of LCA who underwent genetic testing from January 2016 to December 2021. The clinical exome of the patients was analyzed by targeted next-generation...

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Identifiers

PMID: 39728598
DOI: 10.4103/IJO.IJO_545_24
PMCID: PMC12121856

Genes

CRB1
GUCY2D
LCA5
RPE65
NMNAT1
RDH12
RPGRIP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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