Article
Colour vision defects in asymptomatic carriers of the Leber's hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree: a case-control study.
The British journal of ophthalmology - 1 Feb 2006
Quiros P A, Torres R J, Salomao S, Berezovsky A, Carelli V, Sherman J, Sadun F, De Negri A, Belfort R, Sadun A A
Abstract excerpt
AIMS: To determine if asymptomatic carriers from a previously identified large pedigree of the Leber's hereditary optic neuropathy (LHON) 11778 mtDNA mutation have colour vision deficits. METHODS: As part of a comprehensive analysis of over 200 members of a large Brazilian LHON pedigree spanning seven generations, colour vision tests were obtained from 91 members. Colour vision was tested one eye at a time using...
Topics
- Brazil
- Case-Control Studies
- Chi-Square Distribution
- Color Vision Defects
- DNA, Mitochondrial
- Genetic Carrier Screening
- Humans
- Mutation
- Optic Atrophy, Hereditary, Leber
- Pedigree