A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy.
OBJECTIVE
To describe the ophthalmic and genetic findings in a family with X-linked retinitis pigmentosa (RP) and Coats'-like exudative vasculopathy.


METHODS
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.
Demirci
F Yesim K
FY
Department of Ophthalmology, School of Medicine, University of Pittsburgh, 213 Lothrop Street, Pittsburgh, PA 15213, USA.
Rigatti
Brian W
BW
Mah
Tammy S
TS
Gorin
Michael B
MB
D000293:Adolescent; D018389:Codon, Nonsense; D005091:Exons / Q000235:genetics; D005122:Exudates and Transudates; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D016366:Open Reading Frames / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012171:Retinal Vessels / Q000473:pathology*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D013684:Telangiectasis / Q000175:diagnosis / Q000235:genetics*
D018389:Codon, Nonsense; D005136:Eye Proteins; C099929:RPGR protein, human