The Autosomal Dominant Syndrome of Progressive Optic Atrophy and Congenital Deafness

Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family

“…The autosomal dominantly inherited syndromes showing optic atrophy and hearing loss are summarized in Table 3.These syndromes can be further categorized by additional clinical findings and the age of onset. 3,4,14,15 Most similar to the syndrome that was found in our family are the syndromes described with progressive optic atrophy, progressive hearing loss, and variable age of onset. 5,6 The syndrome described by Hagemoser et al, 14 for example, is characterized by optic atrophy, hearing loss, and peripheral neuropathy with an autosomal dominant pattern of inheritance.…”

“…Variable age of onset and severity of visual loss and hearing impairment has been noted between and within families. [3][4][5][6] A gene for autosomal dominant optic atrophy has been identified on chromosome 3q28-qter (referred as the OPA1 locus) and a second locus on chromosome 18q12.2-12.3 (OPA2). 7-10 The OPA1 gene consists of 28 exons and encodes a protein of 960 amino acids.…”