Oguchi disease associated with keratoconus: A case Report

Purpose: To describe a case of genetically proven Oguchi disease associated with keratoconus for the first time from Iran. Methods: A 22-year-old Female came to a cornea specialist to do refractive surgery but due to abnormal Pentacam and keratoconus diagnosis, her refractive surgery was hold and corneal cross linking was suggested toher. Due to abnormal yellow sheen in her both eyes funduscopy, She was referred for further evaluation to us. She denied any night-blindness or decreased vision in her both eyes. Best corrected visual acuity was 20/20 in both eyes. Oguchi disease diagnosis was made with presence of obvious Mizuo-Nakamura phenomenon and was confirmed with ERG and Genetic testing. Oguchi is a very rare congenital retinal disorder and less than 100 patients has been reported to date based on our literature review. Results: We reported first case of genetically proven Oguchi disease from Middle East and first association of this disease with keratoconus in the world to the best of our knowledge. Conclusion: Oguchi disease can be seen with keratoconus. Although it could be accidental due to high prevalence of keratoconus in our population, further reports in future may suggest a pathogenic linkage between these two eye disorders