Simple Autosomal Recessive Optic Atrophy (AROA) is a rare hereditary disorder that belongs to a group of disorders called Hereditary Optic Atrophy. Patients diagnosed with simple AROA have complete blindness since birth or from first few months of life. This blindness does not improve with age. However, no other organ or system is affected in this disorder. There is no known cause or gene mutation associated with it. Here we report a case of a two year old child diagnosed with simple AROA. Family history of the patient revealed that an older deceased relative also suffered from similar symptoms. Identification of this and similar cases of the simple AROA can help us better understand this disorder and hopefully one day help us develop a treatment for it.
Arain, Fazal M.; Chand, Prem; and Choudary, Tanveer A.
"A rare case of simple hereditary recessive optic atrophy,"
Pakistan Journal of Neurological Sciences (PJNS): Vol. 10
, Article 10.
Available at: http://ecommons.aku.edu/pjns/vol10/iss2/10