In:
Acta Ophthalmologica Scandinavica, Wiley, Vol. 83, No. 3 ( 2005-06), p. 337-346
Kurzfassung:
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 ≤ 20 years. Ten out of 20 affected individuals followed up for ≥ 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.
Materialart:
Online-Ressource
ISSN:
1395-3907
,
1600-0420
DOI:
10.1111/aos.2005.83.issue-3
DOI:
10.1111/j.1600-0420.2005.00448.x
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2005
ZDB Id:
2466981-7
ZDB Id:
2024571-3
