Autosomal Recessive Optic Atrophies

Abstract

Autosomal recessive optic atrophies are extremely rare and mostly seen with multisystemic diseases. Optic atrophy may occur at birth or in the neonatal period. Severe visual impairment, nystagmus, and pronounced optic disc pallor may be observed. In visual field examination, varying degrees of peripheral visual field defects and paracentral scotoma can be seen. Autosomal recessive optic atrophy can be seen in several disorders including Behr syndrome, Type III 3-methylglutaconic aciduria (OpticAtrophy Plus Syndrome or Costeff Optic Atrophy Syndrome), Wolfram syndrome (DIDMOAD), autosomal recessive optic atrophy with progressive hearing loss and polyneuropathy, Spastic-Quadriplegia-Dementia-Death (Opticochleodentate Degeneration), and Spinocerebellar ataxia. These disorders should also be considered in the differential diagnosis in cases with optic atrophy in early childhood. It is possible to diagnose these cases with a good clinical evaluation, genetic investigations, and pedigree analysis. Early diagnosis can reduce morbidity and mortality due to these disorders. It is also possible to increase the quality of life of the patients with periodic examinations and early rehabilitation.