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Vol. 37, No. 5, 2005
Issue release date: September–October 2005
Section title: Original Paper
Ophthalmic Res 2005;37:262–269
(DOI:10.1159/000087214)

CYP4V2 Mutations in Two Japanese Patients with Bietti’s Crystalline Dystrophy

Gekka T. · Hayashi T. · Takeuchi T. · Goto-Omoto S. · Kitahara K.
Department of Ophthalmology, Jikei University School of Medicine, Tokyo, Japan

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 4/6/2005
Accepted: 5/13/2005
Published online: 9/15/2005
Issue release date: September–October 2005

Number of Print Pages: 8
Number of Figures: 6
Number of Tables: 0

ISSN: 0030-3747 (Print)
eISSN: 1423-0259 (Online)

For additional information: http://www.karger.com/ORE

Abstract

Bietti’s crystalline dystrophy (BCD) is an autosomal-recessive retinal dystrophy characterized by numerous glistening intraretinal dots scattered over the fundus, particularly in the posterior pole. The purpose of this study was to report mutations in the CYP4V2 gene (encoding a ubiquitously-expressed 525-amino acid sequence belonging to the CYP450 family) and to investigate the impact of the mutation on pre-mRNA splicing. DNA and RNA analyses were conducted using blood samples from two unrelated Japanese patients with BCD (a 46-year-old female and a 52-year-old male). In the female patient, a homozygous deletion/insertion mutation (g.IVS6–8_–1delc.802_810del/insGC) including the 3´-acceptor splice site was identified. Reverse transcription-PCR analysis revealed that the complete length of exon 7 (186 bp), is skipped, resulting in the in-frame deletion mutation (p.V268_E329del). Conversely, the male patient was a compound heterozygote for the deletion/insertion and novel nonsense (p.W340X) mutations. Clinically, the female patient had decreased visual acuity, constriction of visual fields, severely reduced amplitudes in both rod and cone electroretinograms (ERGs). Despite being 6 years older, the male patient presented with milder clinical manifestations having good visual acuity and substantial amplitudes in both rod and cone ERGs. Because the CYP4V2 truncated protein with the p.W340X mutation lacks 186 amino acids at the C-terminus, if expressed, it retains 62 amino acids encoded in exon 7, which are important for enzymatic activity. In the male patient, expression of both mutant alleles may compensate for the malfunction of each mutated protein and could explain why a milder form of BCD results from compound heterozygosity.

© 2005 S. Karger AG, Basel


  

Author Contacts

Takaaki Hayashi, MD, PhD
Department of Ophthalmology, Jikei University School of Medicine
3-25-8, Nishi-shinbashi, Minato-ku
Tokyo 105-8461 (Japan)
Tel. +81 3 3433 1111, ext. 3581, Fax +81 3 5378 8828, E-Mail taka@jikei.ac.jp

  

Article Information

Received: April 6, 2005
Accepted: May 13, 2005
Published online: July 27, 2005
Number of Print Pages : 8
Number of Figures : 6, Number of Tables : 0, Number of References : 29

  

Publication Details

Ophthalmic Research (Journal for Research in Experimental and Clinical Ophthalmology)

Vol. 37, No. 5, Year 2005 (Cover Date: September-October 2005)

Journal Editor: Pleyer, U. (Berlin)
ISSN: 0030–3747 (print), 1423–0259 (Online)

For additional information: http://www.karger.com/ore


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 4/6/2005
Accepted: 5/13/2005
Published online: 9/15/2005
Issue release date: September–October 2005

Number of Print Pages: 8
Number of Figures: 6
Number of Tables: 0

ISSN: 0030-3747 (Print)
eISSN: 1423-0259 (Online)

For additional information: http://www.karger.com/ORE


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