The natural history of OPA1-related autosomal dominant optic atrophy
AC Cohn, C Toomes, AW Hewitt, LS Kearns, CF Inglehearn, JE Craig, DA Mackey
BRITISH JOURNAL OF OPHTHALMOLOGY | B M J PUBLISHING GROUP | Published : 2008
BACKGROUND/AIMS: Autosomal dominant optic atrophy (ADOA) is a genetically heterogenous disease. However, a large proportion of this disease is accounted for by mutations in OPA1. The aim of this longitudinal study was to investigate disease progression in Australian ADOA patients with confirmed OPA1 mutations. METHODS: Probands with characteristic clinical findings of ADOA were screened for OPA1 mutations, and relatives of identified mutation carriers were invited to participate. Disease progression was determined by sequential examination or using historical records over a mean of 9.6 (range 1-42) years. RESULTS: OPA1 mutation carriers (n = 158) were identified in 11 ADOA pedigrees. Sixty-n..View full abstract
We are grateful to Pfizer Australia for providing a research travel grant for A C C. This research was also supported by Glaucoma Australia, the Ophthalmic Research Institute of Australia, The Wellcome Trust, Yorkshire Eye Research and The Royal Society. C T is a Royal Society University Research Fellow, J E C is supported in part by an NHMRC Practitioner Fellowship and D A M is the recipient of a Pfizer Australia Research Fellowship.