Normal electro-oculogram in sibling and parents of a south Indian patient having Best's disease

Abstract

Best’s disease is responsible for a gradual decrease in visual acuity with deterioration beginning in the vitelliruptive stage. This normally presents as painless progressive decrease in vision in the 3rd to 4th decade of life. In this case, an unusual presentation of vitelliruptive stage in a child during the first decade of life is discussed. Normal electrooculogram findings observed in both parents and sibling of the patient are suggestive of an uncommon autosomal recessive inheritance pattern. To the best of our knowledge, this is only the second case reported from India. Counseling and awareness are likely to minimize the morbidity associated with this disorder.