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Article

Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.

Molecular vision - 1 Jan 2020

Huckfeldt Rachel M, Grigorian Florin, Place Emily, Comander Jason I, Vavvas Demetrios, Young Lucy H, Yang Paul, Shurygina Maria, Pierce Eric A, Pennesi Mark E

Abstract excerpt

Purpose: To evaluate the phenotypic spectrum of autosomal recessive RP1-associated retinal dystrophies and assess genotypic associations. Methods: A retrospective multicenter study was performed of patients with biallelic RP1-associated retinal dystrophies. Data including presenting symptoms and age, visual acuity, kinetic perimetry, full field electroretinogram, fundus examination, multimodal retinal imaging,...

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Identifiers

PMID: 32565670
PMCID: PMC7300197

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