Article

Founder Mutation Effect Seen By<i>CERKL</i>Gene Mutation Causing Retinal Dystrophy in North Indian Population

2023-11-09

Abstract excerpt

<h4>Purpose</h4> This paper describes the clinical features, genotype phenotype correlation of CERKL gene mutation, one of the most common genetic mutations of Inherited Retinal Dystrophy (IRD) patients seen in our cohort in North India. <h4>Materials and Methods</h4> Patients clinically diagnosed with an IRD were included in the study. Patients underwent ultra widefield (UWF) fundus photographs, fundus autofluore...

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Literature Corpus work: 750ea2af-80da-540d-b629-57ce94641222
DOI: 10.1101/2023.11.09.23298139

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