Choroidal neovascularization in an adolescent with RDH12-associated retinal degeneration

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.

KEYWORDS:

• Leber congenital amaurosis
• LCA
• choroidal neovascularization
• CNV
• RDH12
• early-onset severe retinal dystrophy
• EOSRD

Authors’ contributions

Study concept and design: LAY, SHT, and KGL.

Acquisition and interpretation of data for diagnosis: LAY, SHT, and KGL.

Drafting of the manuscript: SP, JDS, and XX.

Critical revision of the manuscript for important intellectual content: All authors.

Administrative, technical, or material support: LAY, SP, and XX.

Study supervision: LAY.

Consent for publication

Consent for publication was obtained from the participant.

Disclosure of interest

The authors report no conflict of interest.

Ethics approval and consent to participate

Retrospective review of patient information and imaging data presented in this case study was approved by the Edward S. Harkness Eye Institute and Columbia University Internal Review Boards (AAAR0284) and adhered to the tenets of the Declaration of Helsinki. Informed consent was obtained and the data presented in this study, including images and genetic testing results, are not identifiable to an individual.