Clinical findings of end-stage retinitis pigmentosa with a homozygous PDE6A variant (p.R653X).

ABSTRACT:

Purpose

To report clinical and genetic features of a Japanese patient with end-stage retinitis pigmentosa (RP) caused by a homozygous PDE6A variant.

Methods

We performed comprehensive ophthalmic examinations. Whole exome sequencing analysis was used to investigate the RP patient with parental consanguinity. The pedigree included 4 RP patients in the two generations, which suggests presumed pseudo-autosomal dominant inheritance.

Results

A PDE6A variant (p.R653X) was identified to be homozygous and disease-causing in the patient. Homozygosity mapping revealed the homozygous region including the variant and confirmation of autosomal recessive inheritance. The patient reported night blindness at 4 years of age and exhibited typical RP fundus appearance with

SUBMITTER: Mizobuchi K 

PROVIDER: S-EPMC6307093 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature