Novel Pathognomonic Variant of Atypical Type IV Usher Syndrome with Retinitis Pigmentosa- A Case Report

Abstract

Retinitis Pigmentosa (RP) is a genetically heterogeneous group of inherited retinal disorders causing progressive dysfunction of rod photoreceptor and retinal pigment epithelium, may be seen in isolation or in association with systemic disease. This paper focuses on RP in an atypical type IV usher’s patient. Usher’s syndrome is a rare disorder and is the most common hereditary form of deaf-blindness. The management of these patients is multidisciplinary, involving specialists from different fields. Hereby, author present a case of 47-year-old male patient presented with chief complaints of defective vision in both eyes and defective vision in dim light for past six months. On fundus examination of both the eyes, he was diagnosed to have bilateral RP and on pure tone audiometry, he was diagnosed to have bilateral sensorineural deafness. Molecular gene analysis was done and it revealed Arylsulfatase G (ARSG) gene mutation. The patient was prescribed spectacles for his visual improvement.

Keywords

• pigmentary retinopathy
• phenotype
• sensorineural deafness