Choroidal neovascularization in an adolescent with RDH12-associated retinal degeneration. (4th July 2019)

• Record Type: Journal Article
• Authors: Philip, Shawn; Xu, Xiaoyu; Laud, Ketan G.; Sengillo, Jesse D.; Tsang, Stephen H.; Yannuzzi, Lawrence A.
• Is Part Of: Ophthalmic genetics. Volume 40:Number 4(2019)
• Page Start: 362
• Page End: 364
• Publication Date: 2019-07-04
• Subjects: Leber congenital amaurosis -- LCA -- choroidal neovascularization -- CNV -- RDH12 -- early-onset severe retinal dystrophy -- EOSRD; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2019.1655770
• Languages: English
• ISSNs: 1381-6810

Abstract

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.