Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa

Background: Coats-like retinal vasculopathy in retinitis pigmentosa (RP) is rare. This study describes its clinical spectrum, management outcomes and genetic associations patients with autosomal recessive RP (arRP).Materials methods: Retrospective review of ophthalmic, multimodal imaging, findings treatment arRP who developed features. Identification included searching a dystrophy registry 798 patients.Results: Ten eyes six (4 males, 2 females, mean age 33 years) demonstrated features, namely inferotemporal peripheral telangiectasis combined unilateral vasoproliferative tumor (VPT) 4 eyes. Exudative detachment (ERD) five which four had VPT. Ablation the using laser photocoagulation and/or cryotherapy eight eyes, allowed ERD lipid exudation to decrease seven despite incomplete regression. Additional intravitreal triamcinolone acetonide injection one eye failed regress associated Observation caused increased exudation. Six mutations, including three novel were found CRB1, CNGB1, RPGR, TULP1.Conclusions: features range from VPTs extensive occur predominantly periphery. In addition their classic association CRB1 other genes are implicated. To best our knowledge, this first report describing CNGB1 mutations RP. Awareness spectrum important, timely ablation long-term monitoring recommended prevent additional visual loss patients.