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Article

Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.

Indian journal of ophthalmology - 1 Jun 2023

Sen Parveen, Srikrupa Natarajan, Maitra Puja, Srilekha Sundaramurthy, Porkodi Periyasamy, Gnanasekaran Harshavardhini, Bhende Muna, Khetan Vikas, Mathavan Sinnakaruppan, Bhende Pramod, Ratra Dhanashree, Raman Rajiv, Rao Chetan, Sripriya Sarangapani

Abstract excerpt

Purpose: Inherited retinal dystrophies (IRD) are a heterogeneous group of retinal diseases leading to progressive loss of photoreceptors through apoptosis. Retinitis pigmentosa (RP) is considered the most common form of IRD. Panel-based testing in RP has proven effective in identifying the causative genetic mutations in 70% and 80% of the patients. This is a retrospective, observational, single-center study of...

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Identifiers

PMID: 37322672
DOI: 10.4103/IJO.IJO_2579_22
PMCID: PMC10417947

Provenance

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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