Choroidal Nevus Associated with Vitelliform Deposition in a Patient with Autosomal Dominant Best Dystrophy.

Abstract

To describe the clinical, optical coherence tomography (OCT), fundus autofluorescence and ultrasound findings of a patient with a choroidal nevus actively exuding vitelliform material in the setting of Autosomal Dominant Best dystrophy (BD). The patient's clinical course was followed over time with ophthalmic examinations and multimodal imaging. A 71-year-old male with BD was referred for evaluation of a choroidal nevus in the right eye. Dilated fundoscopic exam showed a small pigmented choroidal nevus in the temporal periphery. Over a 3-year period the nevus developed progressive deposition of vitelliform material along its inferior border. Meanwhile, OCT and fundus photography showed only slight growth. Ultrasound showed no change in height; basal measurements were confounded by the increased vitelliform deposits. Genetic testing confirmed a heterozygous mutation in the BEST1 gene and electrophysiology was consistent with BD. Dysfunction of the retinal pigment epithelium associated with BD may cause novel presentations of other conditions such as choroidal nevi. The implications for malignant transformation of a choroidal nevus associated with vitelliform deposit accumulation in this context is unknown.