Abstract:
Introduction: Optic atrophy is one of the most common cause of vision loss in
children, the differential diagnosis, clinical investigation and genetic testing are of
extreme importance to rule out secondary optic atrophy with potentially reversible
processes.
Aim of study. The report aims to describe the genetic and clinical characteristic of
hereditary optic neuropathies through the presentation of a case of dominant optic
atrophy with loss of visual acuity associated later with progressive bilateral
neurosensory hearing loss.
Methods: We summarize current literature, describe genotype and clinical aspect
correlations .A systematic literature search was conducted in electronic database
PubMed /Medline , and Cochrane Library The analysis of existing literature has
been conducted.
Conclusion: Autosomal Dominant Optic Atrophy and Deafness represent a
syndromic form of Dominant Autosomal Optic Atrophy, To date OPA 1 is the major
gene responsible for Dominant Optic Atrophy accounting for 80% of all the patients.
So understanding the molecular pathogenesis of OPA1gene linked to DOA may
elucidate many other mitochondrial diseases connected later in life with
neurodegenerative progression of glaucoma, Parkinson, dementia and others.
