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Documenta Ophthalmologica
Published in: Documenta Ophthalmologica 3/2014

01-06-2014 | Clinical Case Report

Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation

Authors: Kazuki Kuniyoshi, Hiroyuki Sakuramoto, Kazutoshi Yoshitake, Kosuke Abe, Kazuho Ikeo, Masaaki Furuno, Kazushige Tsunoda, Shunji Kusaka, Yoshikazu Shimomura, Takeshi Iwata

Published in: Documenta Ophthalmologica | Issue 3/2014

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Abstract

Purpose

To report the longitudinal clinical course of three Japanese patients from two families with Leber congenital amaurosis/early-onset retinal dystrophy (LCA/EORD), and the results of next-generation DNA sequences on them.

Patients and methods

The patients were three Japanese children: a 4-year-old girl, a 6-year-old boy, and a 3-year-old girl. Patients 1 and 2 were siblings, and patient 3 was from an unrelated family. Standard ophthalmic examinations including perimetry, electroretinography, optical coherence tomography, and ultrasonography were performed on each patient. The patients were observed for 28, 16, and 10 years. Whole exomes of the patients and their non-symptomatic parents were analyzed using a next-generation sequence technique.

Results

The decimal visual acuity varied between 0.07 and 0.6 at the initial visit and decreased to counting finger to hand motion in their teens. Funduscopy showed diffuse retinal and macular degeneration. During the follow-up period, a posterior staphyloma developed and the macular area became atrophic. Patient 1 developed cataracts in her early twenties. Genetic analysis revealed a homozygous A126V substitution in the RDH12 gene in all patients.

Conclusions

The three patients with LCA/EORD had a progressive decrease of their vision with the formation of a posterior staphyloma. This is the first report of Japanese patients with LCA/EORD with a RDH12 mutation.
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Metadata
Title
Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation
Authors
Kazuki Kuniyoshi
Hiroyuki Sakuramoto
Kazutoshi Yoshitake
Kosuke Abe
Kazuho Ikeo
Masaaki Furuno
Kazushige Tsunoda
Shunji Kusaka
Yoshikazu Shimomura
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/s10633-014-9436-z

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