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.
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