Exudative retinal detachment in a pediatric patient with Rubinstein-Taybi syndrome.

Purpose: To highlight findings of retinal exudation with exudative retinal detachment in a patient with Rubinstein-Taybi syndrome (RSTS) due to CREBBP mutation, successfully treated with laser, with the goal of adding to the known phenotypic spectrum of ophthalmic manifestations of RSTS.

Methods: A case report of a pediatric patient evaluated with multimodal imaging including fundus photography and fluorescein angiography.

Results: A 15-year-old female with RSTS caused by a frameshift mutation in CREBBP was referred for retinal examination under anesthesia.

Bilateral consecutive choroidal neovascularization in Best vitelliform macular dystrophy.

Best vitelliform macular dystrophy (BVMD) is a slowly progressive macular disease caused by a pathogenic variant of the Bestrophin () gene. Examination coupled with multimodal imaging and genetic testing are used to guide diagnosis and treatment. A 12-year-old girl was examined for decreased vision in the left eye and showed bilateral "egg-yolk"-like macular lesions with choroidal neovascularization (CNV) in the left eye.