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Satsuki Yanagihashi, MD, PhD; Mitsuru Nakazawa, MD, PhD; Junji Kurotaki, MD, PhD; Motoya Sato, MD, PhD; Yasuhiro Miyagawa, MD, PhD; Hiroshi Ohguro, MD, PhD

Arch Ophthalmol. 2003;121:1458-1461.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

INTRODUCTION

Increased numbers of mutations in the peripherin/RDS (retinal degeneration slow) gene have been identified in families with autosomal dominant retinitis pigmentosa¹ and several kinds of macular dystrophy.² In this study, we identified a novel heterozygous transversion mutation in codon 195 of the peripherin/RDS gene that results in an amino acid substitution of leucine for arginine (Arg195Leu) in a Japanese family (Figure 1) with autosomal dominant central areolar choroidal dystrophy (CACD). The mutation showed complete cosegregation with the disease in the family and was not found in 100 normal control chromosomes. We describe herein the phenotypic features of patients with autosomal dominant CACD associated with the Arg195Leu of the peripherin/RDS gene, as well as results of a comparative study of the relationship . . . [Full Text of this Article]

REPORT OF CASES

CASE 1

CASE 2

CASE 3

PREDICTED SECONDARY STRUCTURE CHANGES AND CLINICAL SEVERITY SCORE

COMMENT

From the Department of Ophthalmology, Hirosaki University School of Medicine, Hirosaki, Japan (Drs Yanagihashi, Nakazawa, Sato, Miyagawa, and Ohguro), and Kurotaki Eye Clinic, Hachinohe, Japan (Dr Kurotaki). The authors have no relevant financial interest in this article.

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