Does acute loss of vision in autosomal dominant optic atrophy occur early in childhood?
OBJECTIVE
In contrast to Autosomal dominant optic atrophy (ADOA), acute loss of vision is normally observed in Leber's hereditary optic neuropathy (LHON) patients. We present a case of a young child with ADOA with a confirmed OPA1 mutation who appeared to have had an acute visual loss in the third year of life.


METHODS
Differentiating between ADOA and LHON requires careful documentation of visual symptoms, family history, clinical examination and genetic testing if available.


CONCLUSIONS
This clarifies the clinical diagnosis, ensuring appropriate genetic counselling is provided so that affected individuals are accurately informed on inheritance patterns and implications for family members.
Kearns
Lisa S
LS
Center for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Melbourne, Australia.
Forrest
Michael
M
Cohn
Amy C
AC
Churchill
Amanda J
AJ
Mackey
David A
DA
D000208:Acute Disease; D001766:Blindness / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D002675:Child, Preschool; D004596:Electroretinography; D005074:Evoked Potentials, Visual; D020558:GTP Phosphohydrolases / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D029241:Optic Atrophy, Autosomal Dominant / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D011446:Prospective Studies; D014792:Visual Acuity / Q000502:physiology
D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human