A case of Usher syndrome presenting with a right lamellar hole

Abstract

A 23-year-old lady presented to the Eye Clinic with poor night vision since childhood, worse in the right eye. There was an associated history of difficulty hearing noticed by her mother, which has progressively worsened. The presenting visual acuity was hand movement in the right eye and 6/60 in the left eye, respectively. She gave a history of recent and frequent involvement in domestic and road traffic accidents, which precipitated her presentation to the eye clinic. There were no concurrent systemic illnesses. Binocular indirect ophthalmoscopy revealed bilateral widespread bone spicule pigmentation, waxy disc pallor, and attenuated vessels with bilateral atrophic changes worse in the left eye. The optical coherence tomography scan revealed a lamella hole in the right eye. The otorhinolaryngologist made a diagnosis of sensorineural deafness. A diagnosis of Usher syndrome with a right lamellar hole was made in light of the clinical findings.