Choroidal neovascularization in an adolescent with RDH12-associated retinal degeneration
Publication Date
2019
Journal Title
Ophthalmic Genet
Abstract
© 2019, © 2019 Taylor & Francis Group, LLC. 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.
Volume Number
40
Issue Number
4
Pages
362-364
Document Type
Article
Status
Faculty
Facility
School of Medicine
Primary Department
Ophthalmology
PMID
DOI
10.1080/13816810.2019.1655770