Sickle cell disease with hearing defect and retinitis pigmentosa

Abstract

A middle-aged homemaker, known sickle cell anaemia patient presented with complaints of reduced vision and night blindness since childhood along with recent-onset hearing impairment in both ears. Anterior segment findings revealed lens opacities more in the left eye, whereas fundus findings showed widespread bone spicule pigmentation in both eyes. Pure-tone audiometry indicated bilateral sensorineural hearing loss. With improvement in visual acuity after refraction, the corrective spectacle was prescribed along with a hearing aid. She presently maintains a follow-up appointment with the sickle cell, ophthalmology, and ear, nose, and throat clinics for a routine checkup. She has improved in her general health and has been crisis-free since the presentation.

Keywords

• bone spicule pigmentation
• night blindness
• retinitis pigmentosa
• sensorineural deafness
• sickle cell anaemia