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Article

Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene.

Ophthalmic genetics - 1 Jun 2021

Sen Sagnik, Kannan Saraswathi Karuvel, Shanmugam Ulaganathan, Rajan Renu, Babu Naresh, Vanniarajan Ayyasamy

Abstract excerpt

Background: Gyrate Atrophy (GA) is a rare autosomal recessive disorder characterized by progressive chorioretinal degeneration. It is caused due to mutations in OAT gene that encodes a defective ornithine-δ-aminotransferase enzyme. We aim to identify the molecular cause of the disease and correlate it with the phenotype.Materials and Methods: Clinical, biochemical and genetic analyses were performed in siblings...

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Identifiers

PMID: 33463379
DOI: 10.1080/13816810.2020.1870149

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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