The infant with nystagmus, normal appearing fundi, but an abnormal ERG.
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A Kriss | D. Taylor | A. Kriss | S. Lambert | D Taylor | S R Lambert
[1] J. I. Pedersen,et al. Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome. , 1986, The Journal of pediatrics.
[2] A. Dekaban. Mental Retardation and Neurologic Involvement in Patients with Congenital Retinal Blindness , 1972, Developmental medicine and child neurology.
[3] A. Friedmann,et al. Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. , 1961, American journal of ophthalmology.
[4] J. Freedman,et al. Bilateral macular coloboma, keratoconus, and retinitis pigmentosa. , 1971, Annals of ophthalmology.
[5] R. Nussbaum,et al. Mapping X-linked ophthalmic diseases. Provisional assignment of the locus for choroideremia to Xq13-q24. , 1985, Ophthalmology.
[6] M. Sanders,et al. Juvenile Batten's disease: an ophthalmological assessment of 26 patients. , 1980, The British journal of ophthalmology.
[7] E. Auerbach,et al. Achromatopsia with amblyopia , 1974, Documenta ophthalmologica. Advances in ophthalmology.
[8] E. Zackai,et al. Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. , 1986, American journal of medical genetics.
[9] M. Sanders,et al. Neurological abnormalities in congenital amaurosis of Leber. Review of 30 cases. , 1977, Archives of disease in childhood.
[10] C. Astrup,et al. A follow-up of 270 patients with acute affective psychoses. , 1959, Acta psychiatrica Scandinavica. Supplementum.
[11] C. Hoyt,et al. Leber's congenital amaurosis. Is mental retardation a frequent associated defect? , 1982, Archives of ophthalmology.
[12] M. Pembrey,et al. Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis. , 1989, American journal of ophthalmology.
[13] J. Babel. Constatations histologiques dans l'amaurose infantile de Leber et dans diverses formes d'héméralopie , 1963 .
[14] M. Glickstein,et al. Receptors in the monochromat eye , 1975, Vision Research.
[15] H. Moser,et al. Ocular histopathologic and biochemical studies of the cerebrohepatorenal syndrome (Zellweger's syndrome) and its relationship to neonatal adrenoleukodystrophy. , 1983, American journal of ophthalmology.
[16] A. Dekaban. Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain. , 1969, American journal of ophthalmology.
[17] J. Weinstein,et al. Leber's congenital amaurosis. Relationship of structural CNS anomalies to psychomotor retardation. , 1984, Archives of neurology.
[18] M. Alpern,et al. Typical total monochromacy. A histological and psychophysical study. , 1965, Archives of ophthalmology.
[19] M. Sandberg,et al. Electroretinograms in carriers of blue cone monochromatism. , 1986, American journal of ophthalmology.
[20] J. Rapola,et al. Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies. , 1973, Journal of the neurological sciences.
[21] E. Auerbach,et al. Achromatopsia with amblyopia , 1974, Documenta ophthalmologica. Advances in ophthalmology.
[22] B. Spivey. THE X-LINKED RECESSIVE INHERITANCE OF ATYPICAL MONOCHROMATISM. , 1965, Archives of ophthalmology.
[23] E. Auerbach,et al. An electrophysiological and psychophysical study of two forms of congenital night blindness. , 1969, Investigative ophthalmology.
[24] B. Polak,et al. Tapetoretinal degeneration associated with recessively inherited medullary cystic disease. , 1977, American journal of ophthalmology.
[25] A. J. Packer,et al. Diagnosis of neuronal ceroid lipofuscinosis by ultrastructural examination of peripheral blood lymphocytes. , 1987, Archives of ophthalmology.
[26] A. Dekaban,et al. Congenital amaurosis of retinal origin. Frequent association with neurological disorders. , 1966, Archives of neurology.
[27] T. Kearns. External Ophthalmoplegia, Pigmentary Degeneration of the Retina, and Cardiomyopathy: A Newly Recognized Syndrome. , 1965, Transactions of the American Ophthalmological Society.
[28] T. Kuwabara,et al. ELECTRON MICROSCOPY OF A RETINAL ABIOTROPHY. , 1964, Archives of ophthalmology.
[29] H Ripps,et al. Night blindness revisited: from man to molecules. Proctor lecture. , 1982, Investigative ophthalmology & visual science.
[30] Theodor Leber. Die Krankheiten der Netzhaut , 1915 .
[31] D. Wilson,et al. Retinal dystrophy in Jeune's syndrome. , 1987, Archives of ophthalmology.
[32] P. Bowen,et al. A FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS. , 1964, Bulletin of the Johns Hopkins Hospital.
[33] V. Smith,et al. X-linked congenital stationary night blindness. Review and report of a family with hyperopia. , 1991, Archives of ophthalmology.
[34] A. Mccormick,et al. EYE AND HEAD MOVEMENTS OF VISUALLY IMPAIRED CHILDREN , 1986, Developmental medicine and child neurology.
[35] P. Ellis,et al. Osteopetrosis. A clinical study of optic-nerve involvement. , 1962, American journal of ophthalmology.
[36] J. Donald M. Gass. Stereoscopic atlas of macular diseases , 1977 .
[37] D. Taylor,et al. Bilateral macular dysplasia ('colobomata') and congenital retinal dystrophy. , 1985, British Journal of Ophthalmology.
[38] F. Andermann,et al. Familial agenesis of the cerebellar vermis , 1969, Neurology.
[39] D. Danks,et al. Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients. , 1977, Archives of disease in childhood.
[40] W. Grizzard,et al. Tapeto-retinal degeneration associated with renal disease. , 1981, Journal of pediatric ophthalmology and strabismus.
[41] J. François. Metabolic tapetoretinal degenerations. , 1982, Survey of ophthalmology.
[42] R. Carr,et al. Leber's Congenital Amaurosis: A Retrospective Study of 33 Cases and a Histopathological Study of One Case , 1978 .
[43] A. Sorsby,et al. Retinal Aplasia as a Clinical Entity , 1960, British medical journal.
[44] A. Iaina,et al. Congenital Leber amaurosis, keratoconus, and mental retardation in familial juvenile nephronophtisis. , 1978, Journal of pediatric ophthalmology and strabismus.
[45] D. Taylor,et al. A syndrome of congenital retinal dystrophy and saccade palsy--a subset of Leber's amaurosis. , 1984, The British journal of ophthalmology.
[46] Y. Miyake,et al. Reduced amplitude of oscillatory potentials in female carriers of X-linked recessive congenital stationary night blindness. , 1984, American journal of ophthalmology.
[47] A. Mccormick,et al. EYE‐PRESSING BY VISUALLY IMPAIRED CHILDREN , 1983, Developmental medicine and child neurology.
[48] L. Nelson,et al. High hyperopia in Leber's congenital amaurosis. , 1985, Archives of ophthalmology.
[49] F. Batten. Cerebral degeneration, with symmetrical changes in the maculae, in two members of a family , 1903 .
[50] W. R. Biersdorf,et al. Visual sensory disorders in congenital nystagmus. , 1989, Ophthalmology.
[51] E. Boltshauser,et al. Joubert Syndrome: Episodic Hyperpnea, Abnormal Eye Movements, Retardation and Ataxia, Associated with Dysplasia of the Cerebellar Vermis , 1977, Neuropadiatrie.
[52] J. V. D. van den Bosch,et al. Amaurosis congenita (Leber). , 1959, A.M.A. archives of ophthalmology.
[53] H. S. Thompson,et al. Pupillary constriction to darkness. , 1985, The British journal of ophthalmology.
[54] D. Friendly,et al. Cerebro-hepato-renal syndrome of Zellweger. Ocular histopathologic findings. , 1976, Archives of ophthalmology.
[55] K. Yagasaki,et al. Congenital stationary night blindness with negative electroretinogram. A new classification. , 1986 .
[56] G. Schubert,et al. Beitrag zur Analyse des menschlichen Elektroretinogramms , 1952 .
[57] D. Taylor,et al. Leber's congenital amaurosis--a new syndrome with a cardiomyopathy. , 1989, The British journal of ophthalmology.
[58] A. S. Elonnoeelonen,et al. APPRAISAL OF DEVELOPMENTAL LAG IN CERTAIN BLIND CHILDREN. , 1964, The Journal of pediatrics.
[59] H. F. Falls. Heredo-Retinopathia Congenitalis:Monohybrida Recessiva Autosomalis , 1958 .
[60] O J Braddick,et al. Screening for refractive errors in 6-9 month old infants by photorefraction. , 1984, The British journal of ophthalmology.
[61] R. Carr,et al. Macular colobomas in Leber's congenital amaurosis. , 1977, American journal of ophthalmology.
[62] A. Deutman,et al. Yellowish flecks in Leber's congenital amaurosis. , 1984, The British journal of ophthalmology.
[63] C. Phillips,et al. Asphyxiating thoracic dystrophy (Jeune's disease) with retinal aplasia: a sibship of two. , 1979, Journal of pediatric ophthalmology and strabismus.
[64] D. S. Ellis,et al. Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome). , 1984, American journal of ophthalmology.
[65] R. Carr. Congenital stationary nightblindness. , 1974, Transactions of the American Ophthalmological Society.
[66] A E Krill,et al. Photopic abnormalities in congenital stationary nightblindness. , 1971, Investigative ophthalmology.
[67] G. Ponsot,et al. Le syndrome de Joubert , 1990 .
[68] M. King,et al. Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation. , 1984, Archives of disease in childhood.
[69] B. Kushner,et al. Paradoxical pupillary responses in congenital stationary night blindness. , 1977, Archives of ophthalmology.
[70] T H Roderick,et al. Mapping X-linked ophthalmic diseases. III. Provisional assignment of the locus for blue cone monochromacy to Xq28. , 1987, Archives of ophthalmology.
[71] D. Taylor,et al. Ocular manifestations of the congenital varicella syndrome. , 1989, Archives of ophthalmology.
[72] A. Garner,et al. Tapetoretinal degeneration in the cerebro-hepato-renal (Zellweger's) syndrome. , 1982, The British journal of ophthalmology.
[73] G. Horsten,et al. Congenital Blindness in the Presence of a Normal Fundus , 1959 .
[74] I. Maumenee,et al. Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases. , 1987, Archives of ophthalmology.
[75] H. Zellweger,et al. The Cerebro‐Hepato‐Renal (Zellweger) Syndrome And Other Peroxisomal Disorders , 1987, Developmental medicine and child neurology.
[76] D. Danks,et al. Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism. , 1975, The Journal of pediatrics.
[77] W. C. Edwards,et al. Congenital amaurosis of retinal origin (Leber). , 1971, American journal of ophthalmology.
[78] A. Tongue,et al. Congenital stationary night blindness presenting as Leber's congenital amaurosis. , 1987, Archives of ophthalmology.
[79] S. Kraft,et al. Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3. , 1989, Genomics.
[80] J. François. Leber's Congenital Tapetoretinal Degeneration , 1968, International ophthalmology clinics.
[81] H. Goebel,et al. Ultrastructural studies of the retina in infantile neuronal ceroid-lipofuscinosis. , 1988, Retina.
[82] H. Minagi,et al. Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. , 1970, The American journal of medicine.
[83] J. Aicardi,et al. [Joubert's syndrome. Apropos of 5 cases]. , 1983, Archives francaises de pediatrie.
[84] P. Lachapelle,et al. The photopic electroretinogram in congenital stationary night blindness with myopia. , 1983, Investigative ophthalmology & visual science.
[85] J. Pokorny,et al. X-linked incomplete achromatopsia with more than one class of functional cones. , 1983, Investigative ophthalmology & visual science.
[86] H. Moser,et al. Phenotypic and genotypic variability of generalized peroxisomal disorders. , 1988, Pediatric neurology.
[87] H. Bornschein,et al. Comparative electroretinographic studies in congenital night blindness and total color blindness. , 1957, A.M.A. archives of ophthalmology.
[88] W. Zeman. Batten disease: ocular features, differential diagnosis and diagnosis by enzyme analysis. , 1976, Birth defects original article series.
[89] R. Sengers,et al. Cardiomyopathy and Short Stature Associated with Mitochondrial and/or Lipid Storage Myopathy of Skeletal Muscle , 1976, Neuropadiatrie.
[90] J. Sebag,et al. The Alström syndrome: ophthalmic histopathology and retinal ultrastructure. , 1984, The British journal of ophthalmology.
[91] E. Auerbach,et al. Syndrome of congenital high myopia with nyctalopia. Report of findings in 25 families. , 1970, American journal of ophthalmology.
[92] A. Tongue,et al. Ophthalmic manifestations of infantile phytanic acid storage disease. , 1984, Archives of ophthalmology.
[93] M. Price,et al. X-linked congenital stationary night blindness with myopia and nystagmus without clinical complaints of nyctalopia. , 1988, Journal of pediatric ophthalmology and strabismus.
[94] R. Carr,et al. Leber's congenital amaurosis. , 1977, American journal of ophthalmology.
[95] A. Rosenbaum,et al. Loss of electroretinographic oscillatory potentials, optic atrophy, and dysplasia in congenital stationary night blindness. , 1983, American journal of ophthalmology.
[96] A. Sorsby. HEREDO-RETINOPATHIA CONGENITALIS , 1958 .
[97] L. Bard,et al. Retinal involvement in thoracic-pelvic-phalangeal dystrophy. , 1978, Archives of ophthalmology.
[98] C. Raitta,et al. OPHTHALMOLOGICAL FINDINGS IN INFANTILE TYPE OF SO‐CALLED NEURONAL CEROID LIPOFUSCINOSIS , 1973, Acta ophthalmologica.
[99] K. Nott. Sensory deprivation and brain development. The avian visual system as a model , 1973 .
[100] J. Schappert-Kimmijser,et al. ON VARIOUS RECESSIVE BIOTYPES OF LEBER'S CONGENITAL AMAUROSIS * , 1963, Acta ophthalmologica.
[101] J. Opitz,et al. Prenatal diagnosis of neuronal ceroid-lipofuscinoses. , 1985, American journal of medical genetics.
[102] B. Rosner,et al. Color plates to help identify patients with blue cone monochromatism. , 1983, American journal of ophthalmology.
[103] H. Moser,et al. Ocular histopathologic studies of neonatal and childhood adrenoleukodystrophy. , 1983, American journal of ophthalmology.
[104] Y. Kishimoto,et al. New phenotypic variant of adrenoleukodystrophy Pathologic, ultrastructural, and biochemical study in two brothers , 1980, Journal of the Neurological Sciences.
[105] A. Pinckers. Leber's congenital amaurosis as conceived by Leber. , 1979, Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde.
[106] R. Ellis,et al. A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis , 1940, Archives of disease in childhood.
[107] C. Keith. Retinal atrophy in osteopetrosis. , 1968, Archives of ophthalmology.
[108] E. Cotroneo,et al. Joubert Syndrome: a Case Confirmed by Computerized Tomography , 1980, Developmental medicine and child neurology.
[109] J. Bateman,et al. Classification of congenital and early onset retinitis pigmentosa. , 1985, Archives of ophthalmology.
[110] A. Franceschetti,et al. Importance diagnostique et pronostique de l'électrorétinogramme (ERG) dans les dégénérescences tapéto-rétiniennes avec rétrécissement du champ visuel et héméralopie , 1954 .