Hereditary macular diseases

International Ophthalmology Clinics

Volumn 39, Issue 4, 1999, Pages 83-115

  Kelly, Jane ^a   Maumenee, Irene H ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ANIRIDIA; CEREBELLUM ATROPHY; COLOR BLINDNESS; DISEASE CLASSIFICATION; DRUSEN; EYE DISEASE; HUMAN; HUMAN CELL; HUMAN TISSUE; MUCOLIPIDOSIS; NIGHT BLINDNESS; PRIORITY JOURNAL; RETINA MACULA CYSTOID EDEMA; RETINA MACULA LUTEA; RETINA MACULA VITELLIFORM DEGENERATION; RETINA MALFORMATION; RETINITIS PIGMENTOSA; RETINOSCHISIS; REVIEW; STARGARDT DISEASE;

EID: 0032721520     PISSN: 00208167     EISSN: None     Source Type: Journal    
DOI: 10.1097/00004397-199903940-00008     Document Type: Review

References (79)

1. McKusick VA. Mendelian inheritance in man. Catalogs of human genes and genetic disorders, ed. 12. Baltimore: Johns Hopkins University Press, 1998
2. Levin AV, Sutherland J, Quinn AG. Ocular manifestations of chromosomal abnormalities in genetic diseases of the eye, Traboulsi EI, ed. New York: Oxford University Press, 1998
3. Morissette J, Clepet C, Moisan S, et al. Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. Nat Genet 1998;19(4):319-321
4. Wiggs JL, Haines JL, Paglinauan C, et al. Genetic linkage of autosomal dominant juvenile glaucoma to Iq21-q31 in three affected pedigrees. Genom 1994;21:299-303
5. Elsas F, Maumenee I, Kenyon K, Yoder F. Familial aniridia with preserved ocular function. Am J Ophthalmol 1977;83:718-724
6. Traboulsi EI, Zhu D, Maumenee IH. Aniridia. In: Traboulsi EI, ed. Aniridia in genetic disease of the eye. New York: Oxford University Press, 1998;99-114
7. Mohler C, Fine S. Long term evaluation of patients with Best's vitelliform dystrophy. Ophthalmol 1981;88:688-691
8. Stone EM, Nichols BE, Streb LM, et al. Genetic linkage of vitelliform macular degeneration (Bests's disease) to chromosome 11q13. Nat Genet 1992;1:246-250
9. Deutman AF, Jansen LMAA. Dominantly inherited drusen of Bruch's membrane. Br J Ophthalmol 1970;54:373-382
10. Fishman GA, Goldberg MF, Trautmann JC. Dominantly inherited cystoid macular edema. Ann Ophthalmol. 1979;11:21-27
11. Gregory CY, Evans K, Wijersuriya SD, et al. The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16 [published erratum appears in Hum Mol Genet 1996;5:1390]. Hum Mol Genet 1996;5: 1055-1059
12. Heon E, Piguet B, Munier F, et al. Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-p21. Arch Ophthalmol 1996;114:193-198
13. Small KW. North Carolina macular dystrophy revisited. Ophthalmology 1989;96:1747-1754
14. Richards SC, Creel DJ. Pattern dystrophy and retinitis pigmentosa caused by a peripherin/RDS mutation. Retina 1955;15:68-72
15. Hittner HM, Murphree AL, Garcia CA, et al. Dominant cone-rod dystrophy. Doc Ophthalmol 1975;39:29-52
16. Online Mendelian Inheritance in Man, OMIM. Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 1999. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/
17. Felbor U, Suvanto EA, Forsius HR, et al. Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. Am J Hum Genet 1997;60:57-62
18. Krill AE, Archer D. Classification of the choroidal atrophies. Am J Ophthalmol 1971;72: 562-585
19. Lewis RA, Lee GV, Martonyi CL, et al. Familial foveal retinoschisis. Arch Ophthalmol 1977;95:1190-1196
20. Macrae WG. Retinitis pigmentosa in Ontario - a survey. Birth Defects Orig Art Ser 1982;18:175-185
21. Webster AR, van Soelen JM, Chan RC, et al. Clinical, electrophysiological and psychophysical investigation of a family segregating autosomal dominant retinitis pigmentosa linked to the centromere of chromosome I. Invest Ophthalmol Vis Sci 1999;40(suppl):S565
22. Bhattacharya SS, Bessant DA, Payne AM, et al. A mutation in the BZIP transcription factor NRL is associated with autosomal dominant retinitis pigmentosa in a family linked to a novel locus at 14q11. Invest Ophthalmol Vis Sci 1999;40(suppl):S564
23. Fitzgibbon J, Appukuttan B, Gayther S, et al. Localisation of the human blue cone pigment gene to chromosome band 7q31.3-32. Hum Genet 1994;93:79-80
24. Brown DM, Graemiger RA, Hergersberg M, et al. Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14. Arch Ophthalmol 1995; 113:671-675
25. 12 metabolism. Invest Ophthalmol Visual Sci 1989(suppl);30:307
26. Maumenee IH, Stoll HU, Mets MB. The Wagner syndrome versus hereditary arthrophthalmopathy. Trans Am Ophthalmol Soc 1982;80:359-365
27. Wissinger B, Jagle H, Kohl S, et al. Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11. Genom 1998;51:325-331
28. MacVicar JE, Wilbrandt HR. Hereditary retinoschisis and early hemeralopia: a report of two cases. Arch Ophthalmol 1970;83:629-636
29. Yamamoto S, Sippel KC, Berson EL, et al. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat Genet 1997;15:175-178
30. Brody JA, Hussels I, Brink E, et al. Hereditary blindness among Pingelapese people of Eastern Caroline Islands. Lancet 1970;7659:1253-1257
31. Heckenlively JR. Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa. Br J Ophthalmol 1982;66:26-30
32. van Dorp DR, Eriksson AW, Delleman JW, et al. Aland eye disease: no albino misrouting. Clin Genet 1985;28:526-531
33. Weleber RG, Pillers DA, Powell Br, et al. Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp11. Similarity to incomplete congenital stationary night blindness. Arch Ophthalmol 1989;107:1170-1179
34. Nussbaum RL, Lewis RA, Lesko JG, Ferrell R. Choroideremia is linked to the restriction fragment-length polymorphism DXYSI at Xq13-21. Am J Hum Genet 1985; 37: 473-481
35. Cremers FPM, Armstrong SA, Seabra MC, et al. REP-2, a Rab escort protein encoded by the choroideremia-like gene. J Biol Chem 1994;269:2111-2117.
36. Khouri G, Mets MB, Smith VC, et al. X-linked congenital stationary night blindness. Arch Ophthalmol 1988;106:1417-1422
37. Nathans J, Maumenee IH, Zrenner E, et al. Genetic heterogeneity among blue-cone monochromats. Am J Hum Genet 1993;53:987-1000
38. Nathans J, Piantanida TP, Eddy RL, et al. Molecular genetics of inherited variation in human color vision. Science 1986;4747:203-210
39. de Jong PT, Zrenner E, van Meel GJ, et al. Mizuo phenomenon in X-linked retinoschisis: pathogenesis of the Mizuo phenomenon. Arch Ophthalmol 1991;109:1104-1108
40. Arden GB, Gorin MB, Polkinghorne PJ, et al. Detection of the carrier state of X-linked retinoschisis. Am J Ophthalmol 1988;105:590-595
41. Weber BH, Janocha S, Vogt G, et al. X-linked juvenile retinoschisis (RS) maps between DXS987 and DXS443. Cytogenet Cell Genet 1995;69:35-37
42. Sauer CG, Gehrig A, Warneke-Wittstock R, et al. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet 1997;17:164-170
43. Creel D, O'Donnell FE Jr, Witkop CJ Jr. Visual system anomalies in human ocular albinos. Science 1978;4359:931-933
44. O'Donnell FE Jr, Green WR, Fleischman JA, et al. X-linked ocular albinism in Blacks: ocular albinism cum pigmento. Arch Ophthalmol 1978;96:1189-1192
45. Mears AJ, Jacobsoon SG, Sieving PA, et al. Truncation mutations of the RP2 gene in a cohort of 51 North-American X-linked retinitis pigmentosa families. Invest Ophthalmol Vis Sci 1999; 40(suppl);S565
46. Hardcastle AJ, Thiselton DL, Zito I, et al. New genetic loci and gene mutations in X-linked retinal disease. Invest Ophthalmol Vis Sci 1999;40(suppl):S565
47. Greenberg F. Walker-Warburg syndrome in Birth defects encyclopedia, Buyse, ML, ed., Dover, MA: center for Birth Defects Information Services, Inc., 1990:1774-1775
48. Flynn R, Aird RB. A neuroectodermal syndrome of dominant inheritance. J Neurol Sci 1965;2(2):161-182
49. Roig M, Balliu P-R, Navarro C, Brugera R, et al. Presentation, clinical course, and outcome of the congenital form of myotonic dystrophy. Pediatr Neurol 1994;11:208-213
50. Brook J, McCarrach M, Harley HG, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3-prime end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808
51. Froment J, Bonnet P, Colrat A. Heredo-degenerations retiniennes et spino-cerebelleuses: variantes ophtalmoscopiques et neurologiques presentees par trois generations successives. J Med Lyon 1937:153-163 [MIM number 164500]
52. Enevoldson TP, Sanders MD, Harding AE. Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families. Brain 1994;117:445-460
53. Benomar A, Karols L, Stevanin G, et al. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nat Genet 1995;7:84-88
54. Blair NP, Albert DM, Liberfard RM, Hirose T. Hereditary progressive arthro-ophthalmopathy of Stickler. Am J Ophthalmol 1979;88:876-888
55. Traboulsi EI, Maumenee I, Green WR, et al. Olivopontocerebellar atrophy with retinal degeneration. A clinical and ocular histopathologic study. Arch Ophthalmol 1988;106: 801-806
56. Marshall JH, Ludman MD, Shea SE, et al. Genealogy, natural history, and phenotype of Alstrom syndrome in a large Acadian kindred and three additional families. Am J Med Genet 1997;73:150-161
57. Millay RH, Eleber RG, Heckenlively JR. Ophthalmologic and systemic manifestations of Alstrom's disease. Am J Ophthalmol 1986;102:482-490
58. Collin GB, Marshall JD, Cardon LR, Nishina PM. Homozygosity mapping at Alstrom syndrome to chromosome 2p. Hum Mol Genet 1997;6:213-219
59. Glaser T, Ton C, Mueller R, et al. Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar-ataxia and mental-retardation). Genomics 1994;19: 145-148
60. Harnett J, Green J, Cramer B, et al. The spectrum of renal disease in Laurence-Moon-Biedl syndrome. N Engl J Med 1988;319:615-618
61. Farag T, Teebi A. High incidence of Bardet-Biedl syndrome among the Bedouin. Clin Genet 1989;36:463-465
62. Traboulsi EI, DeBecker I, Maumenee IH. Ocular findings in Cockayne syndrome. Am J Ophthalmol 1992;114:579-583
63. Traboulsi EI, Drack AV, Salama H. Pigmentary retinopathy and systemic disease in genetic diseases of the eye. New York: Oxford University Press, 1998:449-451
64. Young T-L, Penney L, Woods MO, et al. A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31 [abstract 1835]. Am J Hum Genet 1998;63(suppl):A317
65. Gouras P, Carr R, Gunkel R. Petinitis pigmentosa in abetalipoproteinemia: effects of vitamin A. Invest Ophthalmol 1971;10:784
66. Muller D, Lloyd J, Bird A. Long-term management of abetalipoproteinemia. Possible role for vitamin E. Arch Dis Child 1977;52:209
67. Narcisi TM, Shoulders CC, Chester SA, et al. Mutations of the microsomal triglyceridetransfer-protein gene in abetalipoproteinemia. Am J Hum Genet 1995;57:1298-1310
68. Spalton DJ, Taylor DS, Sanders MD. Juvenile Batten's disease: an ophthalmological assessment of 26 patients. Br J Ophthalmol 1980;64:726-732
69. Boustany R-M. Neurology of the neuronal ceroid lipofuscinoses: late infantile and juvenile types. Am J Med Genet 1992;42:533-535
70. Lehmann A. Three complementation groups in Cockayne syndrome. Mutat Res 1982; 106:347
71. Warburg M, Pedersen S, Hertwyk H. The Cohen syndrome: retinal lesions and granulocytopenia. Ophthalmic Paediatr Genet 1990;11:7-13
72. Tahvanainen E, Norio R, Harila E, et al. Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. Nat Genet 1994;7:201-204
73. Kaiser-Kupfer M, Gazzo M, Datiles M, et al. A randomized placebo-controlled trial of cysteamine eyedrops in nephropathic cystinosis. Arch Ophthalmol 1990;108:689-693
74. Luckenback M, Green W, Miller N, et al. Ocular clinicopathologic correlation of Hallervorden-Spatz syndrome with acanthocytosis and pigmentary retinopathy. Am J Ophthalmol 1983;95:379-382
75. Laverda A, Saia O, Drigo P, et al. Chorioretinal coloboma and Joubert syndrome: a non-random association. J Pediatr 1984;105:281-284
76. Abrams LA, Traboulsi EI. Albinism in genetic diseases of the eye, Traboulsi EI, ed. New York: Oxford University Press 1998:697-721
77. Lestienne P, Ponsot G. Kearnes-Sayre syndrome with muscle mitochondrial DNA deletion. Lancet 1988;1(8590):885
78. Ogasahara S, Yorifuji S, Nishikawa Y, et al. Improvement of abnormal pyruvate metabolism and cardiac conduction with co-enzyme Q(10) in Kearns-Sayre syndrome. Neurology 1985;35:372-277
79. Weleber RG. Peroxisomal disorders in genetic diseases of the eye. New York: Oxford University Press, 1998:663-674