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

ABSTRACT:

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, and RP1 genotype were evaluated.

Results

Nineteen eligible patients from 17 families were identified and ranged in age from 10 to 56 years at the most recent evaluation. Ten of the 21 unique RP1 variants identified were novel, and mutations within exon 2 accounted for nearly half of alleles across the cohort. Patients had clinical diagn

SUBMITTER: Huckfeldt RM 

PROVIDER: S-EPMC7300197 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature