OMIM #125250

Optic Atrophy and Deafness is #125250 in the Online Mendelian Inheritance of Man (OMIM).  This OPA1 disorder is of particular interest to me.  I work as a pediatric audiologist.  My job is to perform tests on babies and young children to determine whether or not they have hearing loss.  It has long been established that there are genetic disorders that cause both vision and hearing loss.  Combined vision and hearing loss are evident in Usher syndrome (autosomal recessive), Stickler syndrome (autosomal dominant) and OPA1 with deafness (autosomal dominant), to name a few. It is my opinion that children (and adults) with one sensory loss should undergo a thorough examination of other sensory organs.  Additionally, a genetic work up should be considered within the comfort level of the family.