Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of cases

British Journal of Ophthalmology

Volumn 80, Issue 8, 1996, Pages 745-749

  Weber, Bernhard H F ^a   Sander, Stefanie ^a   Kopp, Corinna ^a   Walker, Diane ^b   Eckstein, Anja ^c   Wissinger, Bernd ^c   Zrenner, Eberhart ^c   Grimm, Tiemo ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 1P; FAMILY; FEMALE; GENE LOCUS; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; SCHOOL CHILD;

EID: 0029831329     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.80.8.745     Document Type: Article

References (22)

1. Stargardt K. Über familiäre, progressive Degeneration in der Maculagegend des Auges. Graefes Arch Ophthalmol 1909;71:534-50.
2. Noble KG, Carr RE. Stargardt's disease and fundus flavimaculatus. Arch Ophthalmol 1979;97:1281-5.
3. Kaplan J, Bonneau D, Frezal J, Munnich A, Dufier JL. Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet 1990;85:635-42.
4. Cibis GW, Morey M, Harris DJ. Dominantly inherited macular dystrophy with necks (Stargardt). Arch Ophthalmol 1980;98:1785-9.
5. Bither PP, Berns LA. Dominant inheritance of Stargardt's disease. J Am Optom Assoc 1988;59:112-7.
6. Lopez PF, Maumenee IH, Cruz Z, Green WR. Autosomaldominant fundus flavimaculatus: clinicopathologic correlation. Ophthalmology 1990;97:198-209.
7. Mansour AM. Long-term follow-up of dominant macular dystrophy with flecks (Stargardt). Ophthalmologica 1992; 205:138-43.
8. Stone EM, Nichols BE, Kimura AE, Weingeist TA, Drack A, Sheffield VC. Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol 1994;112:765-72.
9. Zhang K, Bither PP, Park R, Donoso LA, Seidman JG, Seidman CE. A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34. Arch Ophthalmol 1994; 112:759-64.
10. Kaplan J, Gerber S, Larget-Piet D, Rozet J-M, Dollfus H, Dufier JL, et al. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nature Genet 1993;5:308-11.
11. Gyapay G, Morisette J, Vignal A, Dib C, Fizames C, Millasseau P, et al. The 1993-94 Genethon human genetic linkage map. Nature Genet 1994;7:246-339.
12. Bowcock A, Osborne-Lawrence S, Barnes R, Weiss L, Dunn G. Dinucleotide repeat polymorphism at the D1S167 locus. Hum Mol Genet 1992;1:138.
13. Dracopoli NC, Meisler MH. Mapping the human amylase gene cluster on the proximal short arm of chromosome 1 using a highly informative (CA)n repeat. Genomics 1990;7: 97-102.
14. Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 1985;37:482-98.
15. Matise TC, Perlin M, Chakravarti A. Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map. Nature Genet 1994;6:384-90.
16. Buetow KH, Weber JL, Ludwigsen S, Scherpbier-Heddema T, Duyk GM, Sheffield VC, et al. Integrated human genome-wide maps constructed using the CEPH reference panel. Nature Genet 1994;6:391-3.
17. Ott J, ed. Analysis of human genetic linkage. Baltimore: The Johns Hopkins University Press, 1991.
18. Santavuori P, Haltia M, Rapola J, Raitta C. Infantile type of so-called neuronal ceroid-lipofuscinosis. Part I. A clinical study of 15 patients. J Neurol Sci 1973;18:257-67.
19. Wisniewski KE, Kida E, Patxot OF, Connell F. Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: review of data and observations. Am J Med Genet 1992;42:525-32.
20. Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, et al. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 1995;376:584-8.
21. Inernational Batten Disease Consortium. Isolation of a novel gene underlying Batten disease, CLN3. Cell 1995;82 949-57.
22. Gerber S, Rozet J-M, Bonneau D, Souied E, Weissenbach J, Frezal J, et al. Exclusion of the cone-specific α-subunit of the transducin gene in Stargardt's disease. Hum Genet 1995;95:382-1.