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Monique J Leys, J Vernon Odom; The CNV Associated with PRPH2 C213W Missense Mutation Responds Favorably to Anti-VEGF Injections. Invest. Ophthalmol. Vis. Sci. 2016;57(12):553.
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© ARVO (1962-2015); The Authors (2016-present)
To describe a family with a new dominantly inherited Peripherin 2 missense mutation. There was a very favorable response to treatment for subretinal neovascularization in 4 affected eyes .
We describe a new PRPH2 mutation (C213W) in a 66 yr old female. She had undergone treatment for subretinal neovascularization for the last 10 years (PDT, intravitreal steroids and antiVEGF). Visual acuity at last exam was 20/25 in each eye.Her 65 yr old sister had a 13 year history of subretinal neovascularization and had received antiVEGF treatment in both eyes with few injections and excellent response to treatment and best corrected visual acuity of 20/20 and 20/40. The 31 year old daughter presented with flavimaculatus like flecks and had a BCVA of 20/20 .
A pathogenic missense mutation [C213W] in the PRPH2 gene (c.639 C>G p.Cys213Trp) was found and confirmed (EyeGENE and GeneDx). This mutation has not previously been reported to our knowledge.In this family with low intrafamilial variability the subretinal neovascularization appears to occur in the sixth decade. The response to treatment is excellent and there is relatively slow growth of the CNV and limited subretinal atrophy.
This is the first report of PRPH2 (RDS) C213W missense mutation in a family with autosomal dominant pattern dystrophy. The associated subretinal CNV appears to respond well to anti-VEGF treatment.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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