Shawn Philip1,2,3, Xiaoyu Xu1,2,4, Ketan G Laud5, Jesse D Sengillo6, Stephen H Tsang7,8, Lawrence A Yannuzzi1,2. 1. Vitreous Retina Macula Consultants of New York , New York , New York , USA. 2. LuEsther T. Mertz Retinal Research Center, Manhattan Eye, Ear and Throat Hospital , New York , New York , USA. 3. Lake Erie College of Osteopathic Medicine , Erie , Pennsylvania , USA. 4. State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University , Guanghzhou , China. 5. Ophthalmic Consultants of Long Island , Lynbrook , New York , USA. 6. Department of Medicine, Reading Hospital of Tower Health , West Reading , Pennsylvania , USA. 7. Department of Ophthalmology, Columbia University , New York , New York , USA. 8. Jonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory , New York , New York , USA.
Abstract
Background: Leber congenital amaurosis (LCA) due to RDH12 mutations typically manifests with severe vision loss and panretinal dystrophy. We sought to describe a case of LCA with choroidal neovascularization (CNV) in a 17-year-old patient. Materials and Methods: Case report of a 17-year old with LCA who presented with acute central vision loss of the right eye in the context of a chronic retinal dystrophy. Multimodal retinal imaging including spectral-domain optical coherence tomography and indocyanine green angiography revealed CNV. Results: A 17-year-old boy with previously diagnosed LCA/early-onset retinal dystrophy (EOSRD), with subsequently identified biallelic mutations in RDH12 was found to have type 2 CNV. Patient was treated with intravitreal ranibizumab and exhibited improvement on follow-up exam. Conclusions: Choroidal neovascularization may be a unique occurrence in RDH12-associated retinal dystrophy. Successful treatment of the neovascularization could be accomplished with intravitreal antivasogenic therapy.
Background: Leber congenital amaurosis (LCA) due to RDH12 mutations typically manifests with severe vision loss and panretinal dystrophy. We sought to describe a case of LCA with choroidal neovascularization (CNV) in a 17-year-old patient. Materials and Methods: Case report of a 17-year old with LCA who presented with acute central vision loss of the right eye in the context of a chronic retinal dystrophy. Multimodal retinal imaging including spectral-domain optical coherence tomography and indocyanine green angiography revealed CNV. Results: A 17-year-old boy with previously diagnosed LCA/early-onset retinal dystrophy (EOSRD), with subsequently identified biallelic mutations in RDH12 was found to have type 2 CNV. Patient was treated with intravitreal ranibizumab and exhibited improvement on follow-up exam. Conclusions: Choroidal neovascularization may be a unique occurrence in RDH12-associated retinal dystrophy. Successful treatment of the neovascularization could be accomplished with intravitreal antivasogenic therapy.