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1/11. leber congenital amaurosis in siblings with diffuse dysmyelination.

    Two brothers are described with the previously unrecognized combination of Leber amaurosis and abnormal myelin detected by magnetic resonance imaging. Both have evidence of delayed psychomotor development and one has autistic features. A possible relationship with infantile autism or a peroxisomal dysfunction syndrome is explored. No peroxisomal defect was found in these patients.
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ranking = 1
keywords = congenital amaurosis, amaurosis
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2/11. Leber's congenital amaurosis with Duchenne's muscular dystrophy.

    We studied a family with Leber's congenital amaurosis and Duchenne's muscular dystrophy. One son, the proband, was noted to be blind from shortly after birth and had absent pupillary reflexes, attenuation of retinal blood vessels and pigmentary changes of the retina. He manifested Duchenne's muscular dystrophy at 6 years of age and died of its complication--severe respiratory failure--at 21 years of age. His older brother also was blind since birth, with absent pupillary light reflexes and an extinguished electroretinogram in both eyes. The proband's younger brother with Duchenne's muscular dystrophy died following respiratory failure. Their oldest brother was apparently unaffected. Their mother and sister were proven carriers of Duchenne's muscular dystrophy and a maternal uncle and great-uncle also died from this condition. The parents were consanguineous, third generation cousins.
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ranking = 1.2461835533398
keywords = congenital amaurosis, amaurosis
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3/11. Clinical spectrum of leber's congenital amaurosis in the second to fourth decades of life.

    Leber's congenital amaurosis is a type of congenital retinitis pigmentosa in which the fundus abnormalities are extremely variable and to some extent age dependent. Most cases are seen in infancy. The retinal, electroretinogram, and fluorescein angiographic findings are described in ten patients with Leber's congenital amaurosis who ranged in age from 13 to 36 years when first seen. All of the patients were from honduras and were unrelated except for one pair (a brother and sister). The polymorphic appearance of the fundus is emphasized and is particularly striking in the siblings. A macular lesion (a bull's-eye maculopathy) not previously associated with Leber's congenital amaurosis is reported as a variant fundus appearance in this entity.
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ranking = 1.7446569746757
keywords = congenital amaurosis, amaurosis
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4/11. Leber's congenital amaurosis associated with high hyperopia in four sisters.

    The authors describe a family with five daughters, of whom four are affected with Leber's congenital amaurosis and high hyperopia ranging between 5.5 and 9 diopters. In addition, the second daughter is a little short for her age, and shows a slight dyscrania with prominent frontal and occipital bones, hypoplasia of the nasal bone, and deep and narrow orbits leading to marked enophthalmos. The symptoms are typical of Leber's amaurosis. All children have nystagmus, night blindness, weak or absent pupillary reflexes. visual fields are constricted or not measurable. The electroretinogram is extinguished, and hyperopia of the axial type was confirmed by ultrasound. Fundus findings are variable with small, pale and somewhat protruding papillae (pseudo-papillitis), narrow retinal vessels, diffuse fundus pigmentation of pepper-and-salt type and unusual yellow coloration of the macular region (diffuse atrophy). The inheritance of Leber's congenital amaurosis is autosomal recessive. The combined occurrence of amaurosis and hyperopia in four children in one family, while the fifth is unaffected and has no refractive error, furnishes a further evidence for the existence of a particular amaurosis-hyperopia subtype of Leber's disease.
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ranking = 1.5045797359922
keywords = congenital amaurosis, amaurosis
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5/11. Ocular injuries by autostimulation in mentally retarded and nearly blind children.

    Recently, the authors treated two mentally retarded and nearly blind children whose eyes were injured by autostimulation. Case 1, who has Joubert's syndrome associated with Leber's congenital amaurosis, continued to press his left eye with his hands, and a severe corneal ulcer ensued. Case 2, who is suspected of having optic atrophy or cortical blindness, looked too closely at a bright light and burned his eyelid.
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ranking = 0.24923671066796
keywords = congenital amaurosis, amaurosis
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6/11. Photoaversion in Leber's congenital amaurosis.

    Photoaversion is a prominent symptom of a number of infantile genetic ocular disorder such as congenital glaucoma, aniridia, albinism, and cone dystrophies including achromatopsia. Photoaversion has not been widely recognized as a clinical feature of Leber's congenital amaurosis. We present two patients who were diagnosed clinically with achromatopsia because of nystagmus, absent color vision, reduced visual acuity, and moderately severe photoaversion in the absence of anterior segment abnormalities. The photopic and scotopic responses of the electroretinogram (E R G) were nonrecordable in both patients indicating involvement of both cone and rod systems. The diagnosis was then revised to one of Leber's congenital amaurosis. Photoaversion can be a prominent clinical feature in some patients with Leber's congenital amaurosis. The E R G clinches the diagnosis. These patients may constitute a distinct genetic subtype of the disease and molecular genetic studies will help resolve this issue.
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ranking = 1.7446569746757
keywords = congenital amaurosis, amaurosis
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7/11. The ocular pathology in Leber's congenital amaurosis.

    PURPOSE: To present the ocular pathology of a three-year-old child with Leber's congenital amaurosis (LCA) who died from an unrelated episode of presumed viral meningitis. methods: autopsy was performed, and in addition the globes were harvested for pathological examination. Before the child's death, known systemic disorders with infantile retinal dystrophy were excluded. RESULTS: The outer nuclear layer and photoreceptor layers are the primary site of retinal pathology in LCA. CONCLUSION: This report of the pathological findings in LCA, early in the natural history of the disease, indicates that process appears to be a degeneration rather than an agenesis.
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ranking = 1.2461835533398
keywords = congenital amaurosis, amaurosis
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8/11. Joubert syndrome associated with Leber amaurosis and multicystic kidneys.

    We describe a boy with manifestations of Joubert syndrome, leber congenital amaurosis, and multicystic kidneys. In infants with unexplained neonatal tachypnea and late developmental delay, absence or hypoplasia of the cerebellar vermis should be sought. Joubert syndrome probably is an autosomal recessive disorder. In the subsequent pregnancy of the propositus' mother, we were able to make a prenatal diagnosis of Joubert syndrome, one of the first to be reported.
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ranking = 0.26144933998055
keywords = congenital amaurosis, amaurosis
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9/11. Broad A bands of striated muscle in Leber's congenital amaurosis: a new congenital myopathy?

    A 2-year-old boy with Leber's congenital amaurosis, hypotonia, depressed myotatic reflexes, and delayed motor development had numerous foci of broadened or smeared A bands, loss of distinct I bands, and near-normal Z lines in biopsied muscle. The thick filaments in these lesions appeared misaligned, suggesting an abnormality of the M line or of the structural protein connectin. This unique alteration represents the first described morphologic abnormality of muscle in a patient with Leber's congenital amaurosis.
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ranking = 1.4954202640078
keywords = congenital amaurosis, amaurosis
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10/11. Leber's congenital amaurosis associated with mitochondrial dysfunction.

    We report the case histories of two 6-month-old girls, both with young, nonconsanguineous parents, referred to us for suspected blindness. In both cases, Leber's congenital amaurosis was diagnosed. Due to persistently high lactic acid levels in blood, muscle biopsies were taken. Analysis of biopsies revealed that both patients had low levels of complex IV of the mitochondrial respiratory chain; one patient additionally had low levels of complex III. Microscopic and ultrastructural alterations of muscle, typically observed in mitochondrial disorders, were observed only in the second patient. These observations raise the possibility that at least some cases of Leber's congenital amaurosis may be due to alterations in the mitochondrial respiratory chain.
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ranking = 1.4954202640078
keywords = congenital amaurosis, amaurosis
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