Ординатура / Офтальмология / Английские материалы / Handbook of Pediatric Eye and Systemic Disease_Wright, Spiegel, Thompson_2006

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186.Mirhosseini SL, Holmes LB, Walton DS. Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation. J Med Genet 1972;9:193–196.

187.Morgan JD. Incontinentia pigmenti (Bloch–Sulzberger syndrome) A report of four additional cases. Am J Dis Child 1971;122:294– 300.

188.Morse RP, Rockenmacher S, Pyeritz RE, et al. Diagnosis and management of infantile Marfan syndrome. Pediatrics 1990;86: 888–894.

189.Moyer DB, et al. Cockayne syndrome with early onset of manifestations. Am J Med Genet 1982;13:225–230.

190.Mudd SH, et al. Disorders of transulfuration. In: Scriver C, et al (eds) The metabolic basis of inherited disease. New York: McGrawHill, 1989:693–734.

191.Mueller RF, Crowle PM, Jones RAK, Davison BCC. X-linked dominant chondrodysplasia punctata: a case report and family studies. Am J Med Genet 1985;20:137–144.

192.Murdoch JL, Walker BA, Halpern BL, et al. Life expectancy and causes of death in the Marfan syndrome. N Engl J Med 1972;286: 804–808.

193.Neldner KH. Pseudoxanthoma elasticum. Clin Dermatol 1988;6(1): 83–92.

194.Newsome DA, Kraemer KH, Robbins JH. Repair of DNA in xeroderma pigmentosum conjunctiva. Arch Ophthalmol 1975;93:660– 662.

195.Nik NA, Glew WB, Zimmerman LE. Malignant melanoma of the choroid in the nevus of Ota of a black patient. Arch Ophthalmol 1983;100:1641–1643.

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197.Norio R, Raitta C, Lindahl E. Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity. Clin Genet 1984;25:1–14.

198.North C, Patton MA, Baraitser M, Winter RM. The clinical features of the Cohen syndrome: further case reports. J Med Genet 1985;22:131–134.

199.O’Donnell FE Jr, King RA, Green WR, Wilkope J Jr. Autosomal recessively inherited ocular albinism: a new form of ocular albinism affecting females as severely as males. Arch Ophthalmol 1978;96:1621–1625.

200.O’Donnell FE Jr, Hambrick GW Jr, Green WR, Iliff WJ, Stone DL: X-linked ocular albinism: an oculocutaneous macromelanosomal disorder. Arch Ophthalmol 1976;94:1883–1892.

284HANDBOOK OF PEDIATRIC EYE AND SYSTEMIC DISEASE

201.O’Donnell FE Jr, Green WR, Fleischman JA, Hambrick GW. X- linked ocular albinism in blacks. Ocular albinism cum pigmento. Arch Ophthalmol 1978;96:1189–1192.

202.Ohdo S, et al. Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome. J Med Genet 1983;20:52–57.

203.Oorthuys JWE, Loewer-Sieger DH, Schutgens RBH, Wanders RJA, Heymans HSA, Bleeker-Wagemakers EM. Peroxisomal dysfunction in chondrodysplasia punctata, rhizomelic type. Ophthalmic Paediatr Genet 1987;8:183–185.

204.Opitz JM, France TD, Hermann J, Spranger JW. The Stickler syndrome. N Engl J Med 1972;286:546–547.

205.Ormerod AD, White MI, McKay E, Johnston AW. Incontinentia pigmenti in a boy with Klinefelter’s syndrome. J Med Genet 1987; 24:439–441.

206.Ota M. Nevus fusco-caeruleus ophthalmomaxillaris. Tokyo Med J 1939;63:1243–1245.

207.Otsuka F, Robbins JG. The Cockayne sydnrome. An inherited multisystem disorder with cutaneous photosensitivity and defective repair of DNA. Am J Dermatopathol 1985;7:387.

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209.Pearce WG. Ocular and genetic features of Cockayne’s syndrome. Can J Ophthalmol 1972;7:435.

210.Pearce WG, Sauger R, Race RR. Ocular albinism and Xg. Lancet 1968;1:1282–1283.

211.Pedersen U. Bramsen T. Central corneal thickness in osteogenesis imperfecta and otosclerosis. J Otorhinolaryngol Relat Spec 1984;46: 38–41.

212.Percival SPB. Angioid streaks and elastorrhexis. Br J Ophthalmol 1968;52:297–309.

213.Pope FM. Two types of autosomal recessive pseudoxanthoma elasticum. Arch Dermatol 1974;110:209–212.

214.Pope FM. Autosomal dominant pseudoxanthoma elasticum. J Med Genet 1974;11:152–157.

215.Pope FM. Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum. Br J Dermatol 1975;92:493–509.

216.Preus M, et al. Waardenburg syndrome: penetrance of major signs. Am J Med Genet 1983;15:383–388.

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222.Rainbow AJ, Howes MA. A deficiency in the repair of UV and gamma-ray damaged DNA in fibroblasts from Cockayne’s syndrome. Mutat Res 1982;93:235.

223.Ramsey MS, Fine BS, Shields JA, et al. The Marfan syndrome. Am J Ophthalmol 1973;76:102–116.

224.Ramsey MS, Dickson DH. Lens fringe in homocystinuria. Br J Ophthalmol 1975;59:338–342.

225.Ramsey MS, Yanoff M, Fine BS. The ocular histopathology of homocystinuria. A light and electron microscopic study. Am J Ophthalmol 1972;74:377–385.

226.Rennert OM. The Marchesani syndrome. A brief review. Am J Dis Child 1969;117:703–705.

227.Resnick K, Zuckerman J, Cotlier E. Cohen syndrome with bull’s eye macular lesion. Ophthalmic Paediatr Genet 1986;7:1–8.

228.Riedner ED, Levin LS, Holliday MJ. Hearing patterns in dominant osteogenesis imperfecta. Arch Otolaryngol 1980;106:737–740.

229.Riggs W Jr, Seibert J. Cockayne’s syndrome. Roentgen findings. Am J Roentgenol 1972;116:623.

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231.Robbins JH, Kraemer KH, Lutzner MA, et al. Xeroderma pigmentosum: an inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann Intern Med 1974; 80:221–248.

232.Roberts WM, Jenkins JJ, Moorhead EL, Douglass EC. Incontinentia pigmenti, a chromosomal instability syndrome, is associated with childhood malignancy. Cancer (Phila) 1988;62:2370.

233.Rodini ESO, Richieri-Costa A. EEC syndrome: report of 20 new patients, clinical and genetic considerations. Am J Med Genet 1990;37:42–53.

234.Rollnick BR, Hoo JJ. Genitourinary anomalies are a component of the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome. Am J Med Genet 1988;29:131–136.

235.Roper SS, Spraker MK. Cutaneous histiocytosis syndromes. Paediatr Dermatol 1985;3:19–30.

236.Rosen E. Fundus in pseudoxanthoma elasticum. Am J Ophthalmol 1968;66:236–244.

237.Rovin S, Dachi SF, Borenstein DB, Cotter WB. Mandibulofacial dysostosis. A familial study of five generations. J Pediatr 1964;65: 215–221.

238.Royce PM, Steimann B, Vogel A, Steinhorst U, Kohlschuetter A. Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers–Danlos syndrome type VI and fragilis oculi,

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239.Ruben JB, Morris RJ, Judisch GF. Chorioretinal degeneration in infantile malignant osteopetrosis. Am J Ophthalmol 1990;110:1–5.

240.Rudiger RA, Haase W, Passarge E. Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. Am J Dis Child 1970;120: 160–163.

241.Russell LJ, DiGiovanna JJ, Hashem N, Compton JG, Bale SJ. Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q. Am J Hum Genet 1994;55:1146–1152.

242.Sakai LY, Keene DR, Engvall E. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J Cell Biol 1986; 103:2499–2509.

243.Sanders RC, Broers CJM, Pyeritz RE. Sonography of the Marfan syndrome in utero. (Abstract). Am J Med Genet 1989;32:239.

244.Sanders TE. Intraocular juvenile xanthogranuloma. Trans Am Ophthalmol Soc 1960;58:59–74.

245.Secretan M, Zografos L, Guggisberg D, Piguet B. Chorioretinal vascular abnormalities associated with angioid streaks and pseudoxanthoma elasticum.Arch Ophthalmol 1998;116:1333–1336.

246.Seery CM, Pruett RC, Liberfarb RM, Choen BZ. Distinctive cataract in the Stickler syndrome. Am J Ophthalmol 1990;110:143–148.

247.Sefiani A, Abel L, Hellert ZS, et al. The gene for incontinentia piigmenti is assigned to Xq28. Genomics 1989;4:427–429.

248.Sefiani A, M’rad R, Simard L, et al. Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers. Hum Genet 1991;86:297–299.

249.Seguin LR, et al. Ultraviolet light-induced chromosomal aberrations in culture cells from Cockayne syndrome and complementation group C xeroderma pigmentosum patients: lack of correlation with cancer susceptibility. Am J Hum Genet 1988;42:468.

250.Shapiro LJ, Weiss R, Buxmann MM, et al. Enzymatic basis of typical x-linked ichthyosis. Lancet 1978;2:756–757.

251.Sheffield LJ, et al. Chondrodysplasia punctata: 23 cases of a mild and relatively common variety. J Pediatr 1976;89:916–923.

252.Sheffield LJ, Osborn AH, Hutchison WM, et al. Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata. J Med Genet 1998;35:1004–1008.

253.Shemen LJ, et al. Cockayne syndrome, an audiologic and temporal bone analysis. Am J Otolaryngol 1984;5:300.

254.Sherer DW, Bercovitch L, Lebwohl M. Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring. J Am Acad Dermatol 2001;44:534.

255.Shimizu K. Mottled fundus in association with PXE. Jpn J Ophthalmol 1961;5:1–13.

256.Silengo MC, Luzzatti L, Silverman FN. Clinical and genetic aspects of Conradi–Hunermann disease. J Pediatr 1980;97:911–917.

257.Silengo MC, et al. Distinctive skeletal dysplasia in Cockayne syndrome. Pediatr Radiol 1986;16:264.

258.Sillence DO, Rimoin DL. Classification of osteogenesis imperfecta. Lancet 1978;1:1042.

259.Sillence DO, Barlow KK, Garber AP, Hall JG, Rimoin DL. Osteogenesis imperfecta type II: delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet 1984;17:407– 423.

260.Sisk HE, Zahka KG, Pyeritz RE. The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than 4 years of age. Am J Cardiol 1983;52:353–358.

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262.Skinner BA, Greist MC, Norins AL. The keratitis, ichthyosis, and deafness (KID) syndrome. Arch Dermatol 1981;117:285–289.

263.Sly WS, Whyte MP, Sundaram V, et al. Carbonic anhydrase II deficiency in 12 fmilies with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. N Engl J Med 1985;313:139.

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267.Spallone A. Stickler’s syndrome: a study of 12 families. Br J Ophthalmol 1987;71:504–509.

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283.Traboulsi EI, Maumenee IH. Bilateral melanosis of the iris. Am J Ophthalmol 1987;103:115–116.

284.Traboulsi EI, Maumenee IH, Kolsky M, Wilson D, Weleber R. Ophthalmologic findings in chondrodysplasia punctata (Abstract). Ophthalmology 1989.

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NF1 gene is one of the largest genes in which mutations lead to a disease in humans. It is approximately 350 kb in size, consists of 60 exons, and encodes for 11 to 13 transcripts with an open reading frame coding for 2818 amino acids.14 In 1990, the NF1 gene and its protein product, neurofibromin, were identified. The gene product is as a tumor suppressor protein.27,42,108 The protein encoded by NF1 has structural and functional similarity to a family of GTPase-activating proteins (GAPs) that down-reg- ulate a cellular proto-oncogene, p21-ras. ras has been implicated in the control of cell growth and differentiation, and the capability of neurofibromin to down-regulate p21-ras suggests that the loss of neurofibromin may lead to uncontrolled cell growth and tumor formation.4,40,73

Incidence

NF1 is estimated to affect 1 in 3500 individuals.46

Ophthalmologic FEatures

Ophthalmologic features of NF1 are listed in Table 6-2. The most common uveal finding in NF1 is the Lisch nodule, which is a melanocytic harmatoma of the iris.63 These harmatomas appear as elevated, smooth, clear to yellowish or brown, gelatinous, dome-shaped lesions (Fig. 6-1). Lisch nodules are usually multiple, bilateral, and discrete, measuring up to 2 mm in diameter. Lubs and associates examined the prevalence of Lisch nodules in children. Lisch nodules were found in only 5% of NF1