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NPHP1 FULL DELETION CAUSES NEPHRONOPHTHISIS AND A CONE-ROD DYSTROPHY.

Retinal cases & brief reports - 1 Jul 2023

Tauqeer Zujaja, O'Neil Erin C, Brucker Alexander J, Aleman Tomas S

Abstract excerpt

PURPOSE: To describe in detail the structural and functional phenotypes of a patient with cone-rod dystrophy associated with a full deletion of the NPHP1 gene. METHODS: A 30-year-old man with a history of end-stage renal disease presented with progressive vision loss in early adulthood prompting evaluation for retinal disease. Ophthalmic evaluation was performed including visual fields, electroretinography,...

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PMID: 36913617
DOI: 10.1097/ICB.0000000000001208

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