UCLA

OBJECTIVE: To describe the multimodal imaging features, including en face optical coherence tomography (OCT), of Biettis crystalline dystrophy (BCD). METHODS: Wide field fundus photography, autofluorescence (FAF) imaging, and cross sectional and en face OCT were performed in a case of BCD. The level of the crystals in the retina were analyzed. RESULTS: A 42-year-old patient was referred for retinal evaluation with nyctalopia, photophobia and metamorphopsia. Retinal examination and wide field color fundus photography were remarkable for bilateral crystalline deposits in the posterior pole and midperipheral retina. Wide field FAF showed extensive nummular atrophy of the retinal pigment epithelium (RPE) in the macula and periphery. Spectral-domain (SD) OCT illustrated bilateral chorioretinal atrophy in the macula. En face SD OCT captured the hyperreflective crystals in various retinal layers, depending on the selected segmentation. The patient was diagnosed with BCD and genetic testing confirmed the diagnosis (CYP4V positive for two variants). CONCLUSION: In this case report, we describe the multimodal imaging features of Biettis Crystalline Dystrophy. Wide field FAF illustrated diffuse nummular RPE atrophy in the posterior pole and periphery and en face OCT captured the hyperreflective crystals in different layers of the retina.