A twin study of age-related macular degeneration.

PURPOSE To determine the importance of genetic factors in age-related macular degeneration by using a twin study to compare the concordance of age-related macular degeneration in monozygotic and dizygotic twin pairs. METHODS We prospectively examined 134 consecutive twin pairs and two triplet sets for age-related macular degeneration. The zygosity was determined by genetic laboratory tests. RESULTS The concordance of age-related macular degeneration was 100% (25 of 25) in monozygotic and 42% (five of 12) in dizygotic twin pairs. The other twins or triplets had no macular changes of age-related macular degeneration. CONCLUSIONS The statistically significant higher concordance of age-related macular degeneration in monozygotic than in dizygotic twin pairs and the clinical heterogeneity of age-related macular degeneration strongly suggest the importance of genetic and nongenetic factors, respectively, in age-related macular degeneration.

[1]  R. Klein,et al.  Prevalence of age-related maculopathy. The Beaver Dam Eye Study. , 1992, Ophthalmology.

[2]  M. Blumenkranz,et al.  Risk factors in age-related maculopathy complicated by choroidal neovascularization. , 1986, Ophthalmology.

[3]  V. Sheffield,et al.  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. , 1993, Archives of ophthalmology.

[4]  S. Sarks,et al.  Drusen patterns predisposing to geographic atrophy of the retinal pigment epithelium. , 1982, Australian journal of ophthalmology.

[5]  R. Sperduto,et al.  Lens opacities and senile maculopathy. , 1981, Archives of ophthalmology.

[6]  Z. Gregor,et al.  Senile macular changes in the black African. , 1978, The British journal of ophthalmology.

[7]  R. Klein,et al.  The Wisconsin age-related maculopathy grading system. , 1991, Ophthalmology.

[8]  Eye findings in twins reared apart. , 1985, Ophthalmic paediatrics and genetics.

[9]  S. Daiger,et al.  Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin. , 1991, Archives of ophthalmology.

[10]  R. Klein,et al.  The relationship of cardiovascular disease and its risk factors to age-related maculopathy. The Beaver Dam Eye Study. , 1993, Ophthalmology.

[11]  R. Klein,et al.  Cataracts and macular degeneration in older Americans. , 1982, Archives of ophthalmology.

[12]  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.

[13]  W R Green,et al.  Pathologic Features of Senile Macular Degeneration , 1985, Ophthalmology.

[14]  N. Bressler,et al.  The grading and prevalence of macular degeneration in Chesapeake Bay watermen. , 1989, Archives of ophthalmology.

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

[16]  G. Allen.  Twin research: problems and prospects. , 1965, Progress in medical genetics.

[17]  W. Pearce.  Doyne's honeycomb retinal degeneration. Clinical and genetic features. , 1968, The British journal of ophthalmology.

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

[19]  J. Weiter,et al.  Relationship of senile macular degeneration to ocular pigmentation. , 1985, American journal of ophthalmology.

[20]  S. Sarks,et al.  Ageing and degeneration in the macular region: a clinico-pathological study. , 1976, The British journal of ophthalmology.

[21]  Alan Bird,et al.  Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy , 1993, Nature Genetics.

[22]  A. Tellegen,et al.  Volunteer bias in twin research: the rule of two-thirds. , 1978, Social biology.

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

[24]  T. Dawber,et al.  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. , 1980, Survey of ophthalmology.

[25]  B. Rosner,et al.  Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine. , 1991, American journal of ophthalmology.

[26]  S. Sarks,et al.  DRUSEN AND THEIR RELATIONSHIP TO SENILE MACULAR DEGENERATION , 1980 .

[27]  J D Gass,et al.  Drusen and disciform macular detachment and degeneration. , 1973, Archives of ophthalmology.

[28]  D. McFarlin,et al.  Multiple sclerosis in twins , 1980, Neurology.

[29]  D. Paty,et al.  A population-based study of multiple sclerosis in twins. , 1986, The New England journal of medicine.

[30]  T. L. McGee,et al.  Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. , 1990, The New England journal of medicine.

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

[32]  John J. Gart,et al.  Point and interval estimation of the common odds ratio in the combination of 2 × 2 tables with fixed marginals , 1970 .

[33]  F S Rosenthal,et al.  The long-term effects of visible light on the eye. , 1992, Archives of ophthalmology.

[34]  W. Lambert,et al.  The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm. , 1994, Archives of dermatology.

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

[36]  V. Sheffield,et al.  Butterfly–shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene , 1993, Nature Genetics.

[37]  M. Sandberg,et al.  A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens , 1993, Nature Genetics.