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Article

An extended phenotype of RP1L1 maculopathy - case report.

Ophthalmic genetics - 1 Jun 2022

Manayath George J, Rokdey Mayur, Verghese Shishir, Ranjan Ratnesh, Saravanan V R, Narendran Venkatapathy

Abstract excerpt

BACKGROUND: To report the ophthalmological findings of a new phenotypical variant of RP1L1 maculopathy in an Indian patient with a homozygous variant in the RP1L1 gene. MATERIALS AND METHODS: A 39-year-old male presented with complaints of disturbance in the central field of vision in both eyes (BE) for a duration of 6 months. He underwent ophthalmic examinations and diagnostic imaging. A complete retinal...

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PMID: 34965838
DOI: 10.1080/13816810.2021.2021426

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