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CERKL mutation causing retinitis pigmentosa(RP) in Indian population - a genotype and phenotype correlation study.

Ophthalmic genetics - 1 Dec 2020

Sen Parveen, Maitra Puja, Natarajan Srikrupa, Sripriya Srivatsan, Mathavan Sinnakaruppan, Bhende Muna, Manchegowda Pradeep T

Abstract excerpt

BACKGROUND: Mutations in CERKL gene has been reported to cause Retinitis pigmentosa (RP) and clinically appears discrete from other commonly encountered phenotypes. We report 14 patients who were seen to have CERKL mutation of the 152 patients of RP from Indian population who underwent genetic testing. MATERIALS AND METHODS: A retrospective analysis was performed in 28 eyes of the 14 unrelated patients to...

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PMID: 32865075
DOI: 10.1080/13816810.2020.1814347

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