X-Linked Optic Atrophies

Abstract

Primary hereditary optic neuropathies can be genetically transmitted by autosomal dominant, autosomal recessive, X-linked recessive, and mitochondrial inheritance. X-linked recessive optic neuropathies can occur in childhood as well as in adulthood. Prognosis and accompanying clinical findings may also differ. X-linked optic atrophy (OPA 2) syndrome which, optic atrophy is seen from early childhood and is not acute onset; transmitted by the Xp11.4-Xp.11.2 genetic locus. The prognosis is not so bad and they usually live to 40s and 50s ages. Although two different syndromes have been reported in the literature in the region inherited by the TIMM8A gene at the Xq22.1 locus, they are similar in basic. These syndromes are opticoacoustic nerve atrophy and dementia syndrome and deafness, dystonia, and optic atrophy syndrome. In these syndromes, optic atrophy occurs by the end of adolescence. The prognosis of fatal X-linked optic atrophy-ataxia and deafness syndrome, which is transferred by the defect in the PLP gene at the Xq21.33-q24 locus, is poor. It is characterized by mental retardation, early-onset hypotonia, weakness, ataxia, deafness, delayed motor development, nystagmus, vision loss, and vulnerability to respiratory tract infections, usually occurring in infancy. In general, they lose their lives with respiratory infections. As a result, X-linked recessive optic neuropathies differ in terms of prognosis and other accompanying findings.