tunnel vision, hyperornithinemia, low-protein diet
In our highly visual society, a genetic disease that gradually dims one’s vision must be seen as a cruel and debilitating disease. One such disease is the gyrate atrophy of the choroid and retina (GA), an autosomal recessive disease caused by mutations in the gene encoding the mitochondrial enzyme ornithine aminotransferase (OAT). GA is characterized by early onset myopia and night-blindness followed by cataracts and progressive loss of peripheral vision culminating in complete blindness. More than 60 mutations in the gene coding for OAT cause the 150 known cases of GA by an unknown mechanism. Clinical genetic tests are available and should be carried out if there is a family history of the disease, as early dietary restriction of arginine and clinical doses of vitamin B6 slow its progression. Experiments in cultured epidermal keratinocytes show promise towards gene therapy for GA. Future research should be geared towards understanding the molecular basis of GA and finding a permanent cure.
Eukaryon is published by students at Lake Forest College, who are solely responsible for its content. The views expressed in Eukaryon do not necessarily reflect those of the College. Articles published within Eukaryon should not be cited in bibliographies. Material contained herein should be treated as personal communication and should be cited as such only with the consent of the author.