GENETIC AND MOLECULAR STUDIES OF MACULAR DYSTROPHIES - RECENT DEVELOPMENTS

Citation
K. Zhang et al., GENETIC AND MOLECULAR STUDIES OF MACULAR DYSTROPHIES - RECENT DEVELOPMENTS, Survey of ophthalmology, 40(1), 1995, pp. 51-61
Citations number
84
Categorie Soggetti
Ophthalmology
Journal title
ISSN journal
00396257
Volume
40
Issue
1
Year of publication
1995
Pages
51 - 61
Database
ISI
SICI code
0039-6257(1995)40:1<51:GAMSOM>2.0.ZU;2-V
Abstract
Macular degeneration is a heterogeneous group of disorders characteriz ed by progressive central visual loss and degeneration of the macula a nd 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 und erstood, and effective treatment options are limited for most patients . Inherited macular dystrophies share many important features with ARM D but are more readily studied by molecular genetic approaches. Over t he past few years, significant progress has been made in the molecular genetics of inherited macular dystrophies. Genes responsible for domi nant and recessive Stargardt's macular dystrophy as well as Best's dis ease have been localized to specific chromosomal regions. The peripher in/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 deg eneration and provide new rationale for the management and treatment o f patients with these diseases.