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Am J Ophthalmol. 2006 Jan;141(1):208-10.

A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy.

Author information

1
Department of Ophthalmology, School of Medicine, University of Pittsburgh, 213 Lothrop Street, Pittsburgh, PA 15213, USA.

Abstract

PURPOSE:

To describe the ophthalmic and genetic findings in a family with X-linked retinitis pigmentosa (RP) and Coats'-like exudative vasculopathy.

DESIGN:

Observational case series.

METHODS:

Family members underwent comprehensive ophthalmologic examination. Leukocyte genomic DNA samples were obtained and screened for RPGR (RP3) mutations by direct polymerase chain reaction sequencing.

RESULTS:

The proband had RP with bilateral Coats'-like vasculopathy and was treated with fluorescein-potentiated argon laser therapy. The findings in two other affected male patients and three obligate carrier female patients were within the clinical spectrum of a typical X-linked-recessive RP. A novel nonsense RPGR exon ORF15 mutation (912G>T) was found to segregate with RP in this family.

CONCLUSIONS:

This report expands the clinical heterogeneity spectrum caused by RPGR mutations and our knowledge concerning the molecular pathologic condition that pertains to Coats'-like RP. Consistent with the literature, Coats' response was not observed in all family members who were affected by RP, which suggests the involvement of other genetic and/or environmental factors.

PMID:
16387007
DOI:
10.1016/j.ajo.2005.07.077
[Indexed for MEDLINE]
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