Autosomal Recessive Bestrophinopathy Presenting With a Macular Hole Retinal Detachment

Abstract

Purpose: To report a case of autosomal recessive bestrophinopathy (ARB) that presented with macular hole retinal detachment (MHRD). Methods: A case report. Results: A 31-year-old male patient presented with rapid deterioration of vision in the left eye. On fundus examination, bilateral retinal deposits in both eyes, which were brightly hyperautofluorescent, and an MHRD in the left eye could be detected. An electrooculogram demonstrated absent light rise with abnormal Arden’s ratio in both eyes. The patient was offered surgery for the MHRD but refused due to the guarded visual prognosis. Follow up of the patient after one year revealed progression of the retinal detachment. Genetic testing revealed a novel, homozygous missense mutation in the BEST1 gene, confirming the diagnosis of ARB. Conclusion: ARB can present with an MHRD. Counseling patients with inherited retinal dystrophies about the visual prognosis following surgical intervention is important.