Twin study of age-related macular degeneration

PURPOSE To evaluate the genetic contribution in age-related macular degeneration (ARMD) by a disease-ascertained twin study. METHODS Concordance rates for ARMD in 25 twins were obtained by using four masked graders to confirm the diagnosis of ARMD and place subjects in one of three categories; concordant, intermediate, or discordant. Demographic features and known risk factors for ARMD were compared between monozygotic and dizygotic twin pairs. RESULTS Of the 25 twin pairs, 15 were monzygotic and 10 were dizygotic. All 15 monozygotic twins were concordant or intermediate for ARMD. Of the dizygotic twin pairs, only one was concordant and five were discordant. In the demographic and risk factor analysis no unusual contributing or confounding variables were detected. CONCLUSIONS The association between zygosity and concordance for ARMD suggests a major importance for genetics in the etiology of ARMD. Our data further support a multi-factorial, primarily polygenic etiology for the condition.

[1]  M. Musarella.  Molecular genetics of macular degeneration , 2001, Documenta Ophthalmologica.

[2]  Yvette P Conley,et al.  The genetics of age-related macular degeneration. , 2003, Medsurg nursing : official journal of the Academy of Medical-Surgical Nurses.

[3]  Sanjay Sharma.  GENETIC INFLUENCE ON EARLY AGE-RELATED MACULOPATHY , 2002 .

[4]  Harold Snieder,et al.  Genetic influence on early age-related maculopathy: a twin study. , 2002, Ophthalmology.

[5]  W. Willett,et al.  Dietary fat and risk for advanced age-related macular degeneration. , 2001, Archives of ophthalmology.

[6]  J M Seddon,et al.  Familial aggregation of age-related maculopathy. , 1997, American journal of ophthalmology.

[7]  G. Silvestri.  Age-related macular degeneration: genetics and implications for detection and treatment. , 1997, Molecular medicine today.

[8]  W. Willett,et al.  A prospective study of cigarette smoking and age-related macular degeneration in women. , 1996, JAMA.

[9]  A. Bird,et al.  The genetics of complex ophthalmic disorders. , 1996, The British journal of ophthalmology.

[10]  S M Meyers,et al.  A twin study of age-related macular degeneration. , 1995, American journal of ophthalmology.

[11]  Lawrence A. Yannuzzi,et al.  Dietary Carotenoids, Vitamins A, C, and E, and Advanced Age-Related Macular Degeneration , 1994 .

[12]  R Hiller,et al.  Dietary carotenoids, vitamins A, C, and E, and advanced age-related macular degeneration. Eye Disease Case-Control Study Group. , 1994, JAMA.

[13]  M. Klein,et al.  Heredity and age-related macular degeneration. Observations in monozygotic twins. , 1994, Archives of ophthalmology.

[14]  D. Schwartz.  The Beaver Dam Eye Study: the relation of age-related maculopathy to smoking. , 1994, Survey of ophthalmology.

[15]  R. Klein,et al.  Sunlight and age-related macular degeneration. The Beaver Dam Eye Study. , 1993, Archives of ophthalmology.

[16]  D. Ansley.  Aging twins offer clues to late-onset diseases. , 1993, Science.

[17]  E. Murphy,et al.  Threshold model in the genetics of age-dependent disease in twins: I. General principles as applied to Alzheimer disease. , 1992, American journal of medical genetics.

[18]  J. Folk,et al.  North Carolina macular dystrophy and central areolar pigment epithelial dystrophy. One family, one disease. , 1992, Archives of ophthalmology.

[19]  J. Nyboe,et al.  Risk factor analysis for atrophic and exudative age‐related macular degeneration , 1992, Acta ophthalmologica.

[20]  A. Dosso,et al.  Monozygotic twin brothers with age-related macular degeneration. , 1992, Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde.

[21]  Risk factors for neovascular age-related macular degeneration. The Eye Disease Case-Control Study Group. , 1992, Archives of ophthalmology.

[22]  J. Brody,et al.  FACTORS ASSOCIATED WITH AGE-RELATED MACULAR DEGENERATION AN ANALYSIS OF DATA FROM THE FI1R8T NATIONAL HEALTH AND NUTRITION EXAMINATION SURVEY , 1988 .

[23]  A. Zachary,et al.  Monozygotic twins with age-related macular degeneration. , 1988, Archives of ophthalmology.

[24]  M. Melrose,et al.  Identical twins with subretinal neovascularization complicating senile macular degeneration. , 1985, Ophthalmic surgery.

[25]  C. Robinette,et al.  The study of human twins in medical research. , 1984, The New England journal of medicine.

[26]  F L Ferris,et al.  Senile macular degeneration: a case-control study. , 1983, American journal of epidemiology.

[27]  F L Ferris,et al.  Senile macular degeneration: review of epidemiologic features. , 1983, American journal of epidemiology.

[28]  J. Kaprio,et al.  The Finnish Twin Registry: formation and compilation, questionnaire study, zygosity determination procedures, and research program. , 1978, Progress in clinical and biological research.

[29]  J. François.  L'hérédité des dégénérescences maculaires séniles , 1977 .

[30]  H. Falls.  The Hereditary Dystrophies of the Posterior Pole of the Eye , 1972 .

[31]  O. Hill.  A Twin Study , 1968, British Journal of Psychiatry.