Autosomal dominant Stargardt-like macular dystrophy segregating in a large Canadian family

Canadian Journal of Ophthalmology

Volumn 35, Issue 6, 2000, Pages 315-324

  Lagali, P S ^a   MacDonald, I M ^a   Griesinger, I B ^a   Chambers, M L ^a   Ayyagari, R ^a   Wong, P W ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

Author keywords

Genetics; Linkage analysis; Macular dystrophy; Retinal diseases

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL INHERITANCE; BLINDNESS; CLINICAL ARTICLE; ELECTRORETINOGRAPHY; FEMALE; GENETIC LINKAGE; GENETIC RECOMBINATION; GENOTYPE; HUMAN; MALE; MARKER GENE; MULTIGENE FAMILY; RETINA MACULA DEGENERATION; STARGARDT DISEASE; VISUAL ACUITY;

EID: 0034436459     PISSN: 00084182     EISSN: 17153360     Source Type: Journal    
DOI: 10.1016/S0008-4182(00)80059-9     Document Type: Article

References (44)

1. The Framingham Eye Study monograph: An ophthalmological and epidemiological study of cataract, glaucoma, diabetic retinopathy, macular degeneration, and visual acuity in a general population of 2631 adults, 1973-1975
2. Age-related macular degeneration: Epidemiology
3. Recent advances in the genetics of macular dystrophies
4. Clinical and genetic heterogeneity in retinitis pigmentosa
5. Über familiäre, progressive degeneration in der maculagegend des auges
6. Fundus flavimaculatus and Stargardt's disease
7. Stargardt's disease and fundus flavimaculatus
8. Retinal pigment epithelial abnormalities in fundus flavimaculatus: A light and electron microscopic study
9. Autosomal-dominant fundus flavimaculatus: Clinicopathologic correlation
10. Pathophysiology of age-related macular degeneration
11. Dominantly inherited macular dystrophy with flecks (Stargardt)
12. Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q
13. A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34
14. Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14
15. A new locus for autosomal dominant Stargardt-like disease maps to chromosome 4
16. Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease
17. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1
18. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
19. Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q
20. A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters
21. Refinement of the locus for autosomal recessive retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin
22. North Carolina macular dystrophy is assigned to chromosome 6
23. An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1)
24. Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q
25. A novel locus for Leber congenital amaurosis maps to chromosome 6q
26. A new locus for dominant drusen with macular degeneration maps to chromosome 6q14
27. Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci
28. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene
29. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy
30. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene
31. Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene
32. Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene
33. RDS/peripherin gene mutations are frequent causes of central retinal dystrophies
34. Standard for clinical electroretinography
35. Easy calculations of lod scores and genetic risks on small computers
36. Sequential tests for the detection of linkage
37. A comprehensive genetic map of the human genome based on 5,264 microsatellites
38. Visual acuity
39. Stargardt's disease (fundus flavimaculatus)
40. The cone dystrophies
41. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
42. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
43. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
44. ABCR unites what ophthalmologists divide(s)