Delhi Journal of Ophthalmology

Autosomal Dominant Optic Atrophy Plus Syndrome: A Case Report

V. Rajesh Prabu, Ranjini H, Rajlaxmi B. Wasnik, Parul Priyambada

Department of Pediatric Ophthalmology and Strabismus, Sankara Eye Hospital, Coimbatore, Tamil Nadu, India

Editor-in-Chief, Delhi Journal of Ophthalmology, Dr R.P.Centre, AIIMS.


Corresponding Author:

Ranjini H (MBBS, DNB)
Sankara Eye Hospital, Coimbatore
G101, Meadows Apartment, Gowthamapuri Nagar Extn., Vilankurichi Road, Peelamedu , Coimbatore, Tamil Nadu, India
Email : hranjini@yahoo.com


Received: 02-OCT-2019 Accepted: 26-NOV-2020 Published Online: 09-OCT-2020
DOI: https://dx.doi.org/10.7869/djo.570

Abstract
A 9-year-old boy of Indian origin presented with defective vision and nystagmus. The parents also complained of hearing loss. On examination he had bilateral optic atrophy. The condition was running in family with his mother and uncle having similar visual and hearing disturbances, clinodactyly and intellectual disability at later age. Targeted gene sequencing revealed one copy of c.1058G>T (p.S3531) variant of unknown significance in exon 11 of OPA1 gene that was pathogenic of Autosomal Dominant Optic atrophy plus syndrome. This case highlights the clinical spectrum associated with OPA1 mutations.

Keywords :Optic atrophy, hearing loss, OPA1 mutations