Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of Leber hereditary optic neuropathy who showed marked differences in clinical severity

Yukihiko Mashima, Masamich Saga, Yoshiki Hiida, Yutaka Imamura, Jun Kudoh, Nobuyoshi Shimizu

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

PURPOSE: To report the identification of a novel mutation of the RP2 gene in two Japanese brothers with X-linked retinitis pigmentosa of a differing clinical severity. The mother was a carrier of both retinitis pigmentosa and optic atrophy. METHODS: The older brother had a severe form of retinitis pigmentosa associated with macular degeneration and total optic atrophy, whereas the younger brother presented typical X-linked retinitis pigmentosa. RESULTS: Each patient exhibited a novel 2-bp insertion at codon 278 in exon 3 of the RP2 gene as well as a 11778 mutation in mitochondrial DNA. This suggests that the older brother may have developed Leber hereditary optic neuropathy as well as retinitis pigmentosa. CONCLUSION: Molecular testing confirmed the clinical diagnosis in each case. However, such testing did not explain the differences in the severity of the ophthalmoscopic findings between the two brothers. (C) 2000 by Elsevier Science Inc.

Original languageEnglish
Pages (from-to)357-359
Number of pages3
JournalAmerican Journal of Ophthalmology
Volume130
Issue number3
DOIs
Publication statusPublished - 2000 Sep

ASJC Scopus subject areas

  • Ophthalmology

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