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

Abstract

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. In additional to typical features of RSTS, including developmental delay, microcephaly, and broad thumbs and toes, she had an ocular history of bilateral nasolacrimal duct obstructions and intermittent exotropia. Dilated fundus examination revealed left iris coloboma, bilateral optic nerve colobomas, and exudation of the left temporal retina with associated exudative retinal detachment and inferotemporal hemorrhage. Fluorescein angiography demonstrated leakage and avascularity of both eyes, with diffuse leakage and nonperfusion noted in the left eye. The avascular areas of the right eye were treated prophylactically with laser as well as sub-Tenon's triamcinolone. The left retinal exudation initially improved with several rounds of laser treatment, however vitreoretinal membranes eventually developed, resulting in a focal tractional detachment requiring vitrectomy and lensectomy.

Conclusion: Patients with RSTS have a wide spectrum of ophthalmic manifestations. Our patient demonstrated marked peripheral retinal avascularity and vascular leakage, ultimately resulting in a novel finding of sub-retinal exudation. Laser to the avascular retina led to initial regression of the exudation, however the patient ultimately developed a focal tractional detachment requiring surgery.