Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy

Journal of Medical Genetics

Volumn 35, Issue 10, 1998, Pages 793-800

  Votruba, Marcela ^a,b   Moore, Anthony T ^b   Bhattacharya, Shomi S ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

Clinical features; Dominant optic atrophy; Molecular genetics; OPA1

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 18Q; CHROMOSOME 3Q; CLINICAL FEATURE; COLOR VISION DEFECT; GENE LOCUS; GENE MAPPING; HUMAN; MOLECULAR CLONING; MOLECULAR GENETICS; OPTIC NERVE; OPTIC NERVE ATROPHY; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVIEW; VISUAL FIELD DEFECT; VISUAL IMPAIRMENT;

DOA;

EID: 0031692436     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.10.793     Document Type: Review

References (12)

1. Lyle WM. Genetic risks. Waterloo, Ontario: University of Waterloo Press, 1990.
2. Kjer B, Eiberg H, Kjer P, Rosenberg T. Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects. Acta Ophthalmol Scand 1996;74:3-7.
3. Kjer P. Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophthalmol Scand 1959;37(suppl 54):1-146.
4. Bonneau D, Souied E, Gerber S, et al. No evidence of genetic heterogeneity in dominant optic atrophy. J Med Genet 1995;32:951-3.
5. Votruba M, Moore AT, Bhattacharya SS. Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q. J Med Genet 1997;34:117-21.
6. Johnston RL, Burdon MA, Spalton DJ, Bryant SP, Behnam JT, Seller MJ. Dominant optic atrophy, Kjer type: linkage analysis and clinical features in a large British pedigree. Arch Ophthalmol 1997;115:100-3.
7. Lunkes A, Hartung U, Magarino C, et al. Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 centiMorgans in one Cuban family with autosomal dominant optic atrophy type Kjer. Am J Hum Genet 1995; 57:968-70.
8. Brown J, Fingert JH, Taylor CM, Lake M, Sheffield VC, Stone EM. Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1). Arch Ophthalmol 1997;115:95-9.
9. Kerrison JB, Arnould V, Barmada AIM, et al. Autosomal dominant optic atrophy pedigree linked to chromosome 18q12.2-12.3. Invest Ophthalmol Vis Sci 1998;39:2338.
10. Eliott MD, Traboulsi EI, Maumenee IH. Visual prognosis in autosomal dominant optic atrophy (Kjer type). Am J Ophthalmol 1993;115:360-7.
11. Batten B. A family suffering from hereditary optic atrophy. Trans Ophthalmol Soc OTC 1896;16:125.
12. Hoyt CS. Autosomal dominant optic atrophy: a spectrum of disability. Ophthalmology 1980;87:245-51.