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.