Konigsmark Knox Hussels syndrome

Overview

Type of disease: Rare conditions

Konigsmark Knox Hussels syndrome is an inherited condition that causes both hearing and vision loss. This condition is characterized by late-onset progressive sensorineural deafness and progressive optic atrophy, which results in mildly reduced visual acuity. Some affected individuals can develop ophthalmoplegia (paralysis of the muscles that control eye movements), ptosis, ataxia, and non-specific myopathy in middle age. This condition is caused by a particular mutation in the OPA1 gene and is inerited in an autosomal dominant fashion. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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