Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.

Authors: Cohn, AC  Toomes, C  Potter, C  Towns, KV  Hewitt, AW  Inglehearn, CF  Craig, JE  Mackey, DA 
Citation: Cohn AC, etal., Am J Ophthalmol. 2007 Apr;143(4):656-62. Epub 2007 Feb 15.
Pubmed: (View Article at PubMed) PMID:17306754
DOI: Full-text: DOI:10.1016/j.ajo.2006.12.038

PURPOSE: We identified families with autosomal dominant optic atrophy (ADOA), determined the number and type of OPA1 mutations, and investigated the phenotypic variation and penetrance in ADOA Australian pedigrees. DESIGN: Cross-sectional genetics study. METHODS: Probands were identified on the basis of characteristic clinical features of ADOA. We screened the OPA1 gene using single-strand conformational polymorphism, heteroduplex analysis (SSCP/HA), or by direct sequencing. Penetrance for pedigrees in which a mutation of OPA1 had been identified was calculated initially using all recruited individuals, and subanalysis was performed using only those families for which there was total recruitment of siblings. RESULTS: A total of 406 patients from 17 pedigrees were recruited, and OPA1 mutations were identified in 11/17 (65%) of these. The mean age at clinical examination was 38.2 +/- 19.9 years (median age, 35 years; range, four to 83 years). The median best-corrected visual acuity in OPA1-mutation carriers was 20/70 (range, 20/16 to hand movements [HM]). The penetrance in Australian ADOA pedigrees in the families with complete sibling recruitment was 82.5%. On the other hand, overall penetrance for all individuals harboring an OPA1 mutation was 88%. CONCLUSIONS: OPA1 mutations were identified in 11/17 (65%) of the ADOA pedigrees in this study. The penetrance in our cohort was lower than originally described (82.5% vs 98%) but higher than some recent studies since the availability of genotyping. It is anticipated that this figure would be even lower as more asymptomatic individuals are identified. There are likely to be other genetic and environmental modifiers influencing disease penetrance.

Annotation

Disease Annotations
Phenotype Annotations
Objects Annotated

Additional Information

 
CRRD Object Information
CRRD ID: 7800704
Created: 2014-01-16
Species: All species
Last Modified: 2014-01-16
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.