Dominant optic atrophy: correlation between clinical and molecular genetic studies.
Acta Ophthalmol Scand
; 83(3): 337-46, 2005 Jun.
Article
em En
| MEDLINE
| ID: mdl-15948788
ABSTRACT
PURPOSE:
To assess the clinical picture and molecular genetics of 14 Finnish families with dominant optic atrophy (DOA).METHODS:
The clinical status of family members was based on the assessment of visual acuity, colour vision, visual fields and optic nerve appearance; 31 individuals were affected, two suspect and 21 unaffected. A total of 30 coding exons and exon- intron boundaries of the OPA1 gene were sequenced in order to detect mutations.RESULTS:
Half the patients were diagnosed at the age of < or = 20 years. Ten out of 20 affected individuals followed up for > or = 6 years had a progressive disease and 10 had a stable disease. According to WHO criteria, 36% of the affected patients were visually handicapped. Eight OPA1 pathogenic mutations, all but one novel, and 18 neutral polymorphisms were detected.CONCLUSION:
The most sensitive indicators of DOA were optic disc pallor and dyschromatopsia. With molecular genetic analysis, asymptomatic mutation carriers and DOA cases with a mild clinical outcome were ascertained. No mutational hotspot or Finnish major mutation in the OPA1 gene could be demonstrated as most families carried a unique mutation. No obvious genotype- phenotype correlation could be detected. Detailed clinical assessment and exclusion of non-DOA families prior to mutation screening are necessary for obtaining a high mutation detection rate.
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Atrofia Óptica Autossômica Dominante
/
GTP Fosfo-Hidrolases
/
Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
/
Aged
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2005
Tipo de documento:
Article