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01-06-2014 | Clinical Case Report

Autosomal recessive cone–rod dystrophy associated with compound heterozygous mutations in the EYS gene

Authors: Satoshi Katagiri, Masakazu Akahori, Takaaki Hayashi, Kazutoshi Yoshitake, Tamaki Gekka, Kazuho Ikeo, Hiroshi Tsuneoka, Takeshi Iwata

Published in: Documenta Ophthalmologica | Issue 3/2014

Abstract

Background

EYS mutations have been identified only in patients with autosomal recessive retinitis pigmentosa (arRP). This study was conducted to describe clinical and genetic features of a Japanese patient with autosomal recessive cone–rod dystrophy (arCRD) and EYS mutations.

Methods

We performed complete ophthalmic examinations including full-field electroretinography (ERG). Genetic analysis using whole-exome sequencing and Sanger sequencing was performed to identify the disease-causing mutation in a 31-year-old male patient.

Results

At the initial visit, the patient’s decimal best-corrected visual acuity (BCVA) was 0.9 and 0.6 in his right and left eyes, respectively. Funduscopy indicated retinal degenerations were predominantly affected within the vascular arcades and preserved retinal vessels in the mid-periphery in both eyes. Visual field testing showed there were relative central scotomas and preserved peripheral visual fields in both eyes. ERG indicated there was a decreased pattern for both the rod and cone responses. At the age of 36 years, his BCVA decreased to 0.2 in both eyes. Optical coherence tomography showed marked retinal thinning of the macular regions in both eyes. Genetic analysis identified compound heterozygous truncating mutations (p.Y2935X and p.S1653KfsX2) in the EYS gene. His unaffected parents were heterozygous for each mutation.

Conclusions

Our results demonstrated that EYS mutations can be the cause of not only arRP but also arCRD. Our findings extend the phenotypic spectrum of patients with EYS mutations.

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Title: Autosomal recessive cone–rod dystrophy associated with compound heterozygous mutations in the EYS gene
Authors: Satoshi Katagiri
Masakazu Akahori
Takaaki Hayashi
Kazutoshi Yoshitake
Tamaki Gekka
Kazuho Ikeo
Hiroshi Tsuneoka
Takeshi Iwata
Publication date: 01-06-2014
Publisher: Springer Berlin Heidelberg
Published in: Documenta Ophthalmologica / Issue 3/2014
Print ISSN: 0012-4486
Electronic ISSN: 1573-2622
DOI: https://doi.org/10.1007/s10633-014-9435-0

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Autosomal recessive cone–rod dystrophy associated with compound heterozygous mutations in the EYS gene

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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