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Article

Clinical and Molecular Characterization of PROM1 -Related Retinal Degeneration

14 Jun 2019

Abstract excerpt

Importance: The PROM1 gene, commonly associated with cone-rod dystrophies, may have dominant or recessive phenotypes that influence disease onset and severity. Objective: To characterize the clinical phenotype and molecular genetic variations in patients with PROM1 variants. Design, Setting, and Participants: This case-series study was conducted at 2 specialist retinal genetics clinics and examined 19...

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PMID: 31199449
DOI: 10.1001/jamanetworkopen.2019.5752

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