Electrophysiological analysis of Best's macular dystrophy and retinal pigment epithelial pattern dystrophy

Abstract

Best's macular dystrophy (BMD) and pattern dystrophy of the retinal pigment epithelium were studied by our electrophysiological test for the cone receptor cell and retinal pigment epithelium (RPE). Cone activity was evaluated by the electroretinographic rapid off-response which is mainly composed of the decay of the late receptor potential of cones. RPE activity was assessed by change in the EOG amplitude in response to hyperosmolarity and to Diamox (hyperosmolarity response and Diamox response, respectively).The L/D and the hyperosmolarity response were abnormal in both eyes of a patient with BMD. Both fundi of a daughter of this patient were ophthalmoscopically normal. The L/D and the hyperosmolarity response, however, were abnormal bilaterally in the daughter, who was thought to be a carrier of the pathological gene for Bmd. The abnormal hyperosmolarity response indicated pigment epitheliopathy in the patient with BMD and in his daughter, who had no visible fundus lesion.In both a familial case and an ...