TY - JOUR
T1 - Genetic and molecular studies of macular dystrophies
T2 - recent developments
AU - Zhang, Kang
AU - Nguyen, The Hung Edward
AU - Crandall, Alan
AU - Donoso, Larry A.
N1 - Funding Information:
wew of its morphology and effects on visual function. Ophthalmol Physiol Opt 10:149-158. 1990 73. Travis GH. Brennan MB, Danielson PE. et ah Identification of a photoreceptor-specific mRNA encoded by the gene re-ponsible for retinal degeneration slow (rds) Nature 338:70-73. 1989 74. Vinding T: Age-related macular degeneration. Macular changes, prevalence and sex ratio. Acta Ophthalmol 67: 609-616, 1989 75. Wang MX, Donoso LA: Gene research and the eye. Curr Opin Ophthalmol 4:102-111. 1993 76. Weber BHE Vogt G, Wolz W, el ah Sorsby's fundus dystro-phy is genetically linked to chromosome 22q13-qter. Nature Genet 7:158-161, 1994 77. WeissenbacbJ, Gyapay G, Dib C, et al: A second generation linkage map of the human genome. Nature 359:794-80t. 1992 78. Weleber RG, Carr RE. Murphey WH, et al: Phenotypic vari-anon 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 111:1531-1542, 1993 79. Wells J, WroblewskiJ, Keen J, e~ al: Mutations in the human retinal degeneration slow (RDS) gene can cause either ret-initis pigmentosa or macnlar dystrophy. Nature Genet 3: 213-218 1993 80. Wright A.F, Bhattacharya SS, ClaytonJF, et al: Two different genes for X-linked retinitis pigmentosa. Genomics 2:263-266, 1988 81o Young RW: Pathophysiotogy of age-related macular degen-eration. Surv Ophthalmol 31:291-306, 1987 82. Zhang K. Bither PR Park R. et al: A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34. Arch Ophthalmol 112:759-764, 1994 83. Zhang K, Wang MX. Munier F, et ah Molecular genetics of retinoblastoma. Int Ophthahnol Clin 33:53-65. 1993 84. Zhang K. Bither PR Donoso I.A: Exclusion of chromosome llq13 region as a genetic locus responsible for autosomal dominant Stargardt's disease. Am ~ Ophthahnol 117:545-546, 1994 Larry A. Donoso. MD. PhD, is the Thomas D. Duane Professor of Ophthalmology and the recipient of a Senior Scientific Investigator Award from Research Lo Prevent Blindness. Inc. Kang Zhang, PhD. is a Henry and Corinne Bower Fellow. The-Hung Edward Nguyen is a student at the University of California, San Francisco School of Medicine. We are grateful to W. Lin for his critical reading of the manuscript. Supported in part by the Eye Research Institue, the Henry and Corinne Bower Laboratory for Macular Degeneration (Philadelphia). the Michael Wyman Center for Retinal Degeneration , Salt Lake City) the estates of Martha WS Rogers, and Besse Case Winters and a gift from Betty Gross.
PY - 1995
Y1 - 1995
N2 - Macular degeneration is a heterogeneous group of disorders characterized by progressive central visual loss and degeneration of the macula and underlying retinal pigment epithelium (RPE) of the eye. Age-related macular degeneration (ARMD), the most common form of the disease, is the leading cause of legal blindness in the elderly population in the United States and in the many developed countries throughout the world. Despite its prevalence, its etiology and pathogenesis are poorly understood, and effective treatment options are limited for most patients. Inherited macular dystrophies share many important features with ARMD but are more readily studied by molecular genetic approaches. Over the past few years, significant progress has been made in the molecular genetics of inherited macular dystrophies. Genes responsible for dominant and recessive Stargardt's macular dystrophy as well as Best's disease have been localized to specific chromosomal regions. The peripherin/RDS gene when defective is associated with butterfly-shaped pattern dystrophy. Molecular studies of genes involved in macular dystrophies may yield insights into the mechanisms of pathogenesis of macular degeneration and provide new rationale for the management and treatment of patients with these diseases.
AB - Macular degeneration is a heterogeneous group of disorders characterized by progressive central visual loss and degeneration of the macula and underlying retinal pigment epithelium (RPE) of the eye. Age-related macular degeneration (ARMD), the most common form of the disease, is the leading cause of legal blindness in the elderly population in the United States and in the many developed countries throughout the world. Despite its prevalence, its etiology and pathogenesis are poorly understood, and effective treatment options are limited for most patients. Inherited macular dystrophies share many important features with ARMD but are more readily studied by molecular genetic approaches. Over the past few years, significant progress has been made in the molecular genetics of inherited macular dystrophies. Genes responsible for dominant and recessive Stargardt's macular dystrophy as well as Best's disease have been localized to specific chromosomal regions. The peripherin/RDS gene when defective is associated with butterfly-shaped pattern dystrophy. Molecular studies of genes involved in macular dystrophies may yield insights into the mechanisms of pathogenesis of macular degeneration and provide new rationale for the management and treatment of patients with these diseases.
KW - Best's (vitelliform) macular dystrophybutterfly-shaped pattern dystrophy
KW - Stargardt's macular dystrophy
KW - age-related
KW - genetics
KW - hereditary disorders
KW - macular degeneration
KW - macular dystrophies
KW - retinal pigment epithelium
UR - http://www.scopus.com/inward/record.url?scp=0029152050&partnerID=8YFLogxK
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U2 - 10.1016/S0039-6257(95)80047-6
DO - 10.1016/S0039-6257(95)80047-6
M3 - Article
C2 - 8545803
AN - SCOPUS:0029152050
SN - 0039-6257
VL - 40
SP - 51
EP - 61
JO - Survey of ophthalmology
JF - Survey of ophthalmology
IS - 1
ER -