American Journal of Ophthalmology
Volume 127, Issue 4 , Pages 426-435 , April 1999

Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14

  • Albert O Edwards, MD, PhD

      Affiliations

    • Casey Eye Institute, Department of Ophthalmology, Oregon Health Sciences University, Portland, Oregon, USA (Drs Edwards, Acott, and Weleber)
    • ,
  • Anita Miedziak, MD

      Affiliations

    • Henry and Corinne Bower Laboratory for Macular Degeneration, Wills Eye Hospital and Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA (Drs Miedziak, Vrabec, Verhoeven, and Donoso)
    • ,
  • Tamara Vrabec, MD

      Affiliations

    • Henry and Corinne Bower Laboratory for Macular Degeneration, Wills Eye Hospital and Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA (Drs Miedziak, Vrabec, Verhoeven, and Donoso)
    • ,
  • Janneke Verhoeven, MD

      Affiliations

    • Henry and Corinne Bower Laboratory for Macular Degeneration, Wills Eye Hospital and Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA (Drs Miedziak, Vrabec, Verhoeven, and Donoso)
    • ,
  • Ted S Acott, PhD

      Affiliations

    • Casey Eye Institute, Department of Ophthalmology, Oregon Health Sciences University, Portland, Oregon, USA (Drs Edwards, Acott, and Weleber)
    • ,
  • Richard G Weleber, MD
    • ,
  • Larry A Donoso, MD, PhD

      Affiliations

    • Henry and Corinne Bower Laboratory for Macular Degeneration, Wills Eye Hospital and Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA (Drs Miedziak, Vrabec, Verhoeven, and Donoso)
    • Corresponding Author InformationReprint requests to Larry A. Donoso, MD, PhD, Thomas D. Duane Professor of Ophthalmology, Wills Eye Hospital, 900 Walnut Street, Philadelphia, PA 19107; fax: (215)-592-4628

,Accepted 3 September 1998.

References 

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  2. Cibis GW, Morey M, Harris DJ. Dominantly inherited macular dystrophy with flecks (Stargardt). Arch Ophthalmol. 1980;98:1785–1789
  3. Bither PP, Berns LA. Dominant inheritance of Stargardt’s disease. J Am Optom Assoc. 1988;59:112–117
  4. Mansour AM. Long-term follow-up of dominant macular dystrophy with flecks (Stargardt). Ophthalmologica. 1992;205:138–143
  5. 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. [see comments] Arch Ophthalmol. 1994;112:765–772
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  13. Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM. 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. Arch Ophthalmol. 1993;111:1531–1542
  14. Allikmets R, Shroyer NF, Singh N, et al.  Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. [see comments] Science. 1997;277:1805–1807
  15. Klein ML, Schultz D, Edwards A, et al.  Age-related macular degeneration (clinical features in a large family and linkage to chromosome 1q). Arch Ophthalmol. 1998;116:1082–1088
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  18. Sauer CG, Schworm HD, Ulbig M, et al.  An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1). J Med Genet. 1997;34:961–966
  19. Ott J. A computer program for linkage analysis of general human pedigrees. Am J Hum Genet. 1976;28:528–529
  20. Allikmets R, Singh N, Sun H, et al.  A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. [see comments] Nature Genetics. 1997;15:236–246
  21. Small KW, Gehrs K. Clinical study of a large family with autosomal dominant progressive cone degeneration. Am J Ophthalmol. 1996;121:1–12
  22. Kaplan J. Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet. 1990;85:635–642
  23. Anderson KL, Baird L, Lewis RA, et al.  A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p. Am J Hum Genet. 1995;57:1351–1363
  24. Small KW, Syrquin M, Mullen L, Gehrs K. Mapping of autosomal dominant cone degeneration to chromosome 17p. Am J Ophthalmol. 1996;121:13–138
  25. Puech B, Hache JC, Turut P, Francois P. X-shaped macular dystrophy with flavimaculatus flecks. Ophthalmologica. 1989;199:146–157
  26. Krill AE. Flecked retina diseases. In:  Krill AE editors. Krill’s hereditary retinal and choroidal diseases. New York: Harper and Row; 1977;p. 739–824
  27. Small KW, Hermsen V, Gurney N, Fetkenhour CL, Folk JC. North Carolina macular dystrophy and central areolar pigment epithelial dystrophy. One family, one disease. Arch Ophthalmol. 1992;110:515–518
  28. Wijesuriya SD, Evans K, Jay MR, et al.  Sorsby’s fundus dystrophy in the British Isles (demonstration of a striking founder effect by microsatellite-generated haplotypes). Genome Research. 1996;6:92–101

☆ Supported by the Elizabeth C. King Trust, the Ruben and Mollie Gordon Foundation, the Eye Research Institute, the Estates of Betty Gross, Margaret Mercer, and Martha W. S. Rogers, and an unrestricted grant from Research to Prevent Blindness, Inc, New York, New York, and Macular Degeneration International at the Wills Eye Hospital, Philadelphia, Pennsylvania. The Kyle Curran Fund, an unrestricted grant from Research to Prevent Blindness, Inc, the Foundation Fighting Blindness (Dr Weleber), and the Heed Ophthalmic Foundation (Dr Edwards) provided support at the Casey Eye Institute.

PII: S0002-9394(98)00331-6

American Journal of Ophthalmology
Volume 127, Issue 4 , Pages 426-435 , April 1999

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