Results 161 to 170 of about 1,166 (222)
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Archives of Ophthalmology, 1958
Congenital hereditary optic atrophy is a rare but important specific entity, which is seldom recognized by most ophthalmologists. It is distinct from Leber's hereditary optic atrophy, particularly as to its age of onset, course, relative absence of associated physical abnormalities, and pattern of hereditary transmission.
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Congenital hereditary optic atrophy is a rare but important specific entity, which is seldom recognized by most ophthalmologists. It is distinct from Leber's hereditary optic atrophy, particularly as to its age of onset, course, relative absence of associated physical abnormalities, and pattern of hereditary transmission.
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American Journal of Ophthalmology, 1921
The author was able to observe nine cases of this disease affecting two generations of a family. He also reviews some of the more recent literature regarding it and inclines to the view that a low grade toxic retinitis may be the essential lesion. Read before the American Ophthalmological Society, June, 1920.
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The author was able to observe nine cases of this disease affecting two generations of a family. He also reviews some of the more recent literature regarding it and inclines to the view that a low grade toxic retinitis may be the essential lesion. Read before the American Ophthalmological Society, June, 1920.
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Archives of Ophthalmology, 1969
A 5-year-old child was examined because of decreased vision with as yet no detectable objective explanation. The mother and grandmother were known to have decreased vision and pallor of the optic nerve heads. Other presumed affected members of the maternal family were identified through five generations.
L R, Shapiro +3 more
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A 5-year-old child was examined because of decreased vision with as yet no detectable objective explanation. The mother and grandmother were known to have decreased vision and pallor of the optic nerve heads. Other presumed affected members of the maternal family were identified through five generations.
L R, Shapiro +3 more
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American Journal of Ophthalmology, 1927
These cases occurring in a mother and two daughters presented great reduction of central vision and limitation of fields for color, altho the periphery of the fields for form were little, or not at all, diminished. The optic discs were pale, and in the mother the retinal vessels contracted.
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These cases occurring in a mother and two daughters presented great reduction of central vision and limitation of fields for color, altho the periphery of the fields for form were little, or not at all, diminished. The optic discs were pale, and in the mother the retinal vessels contracted.
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The hereditary familial optic atrophies
Neuro-Ophthalmology, 1986Genuinely isolated heredo-familial optic atrophies, may be a monosystem manifestation of heredofamilial neurological syndromes with optic nerve atrophy. Modern neuro-ophthalmological collaborative investigations will allow a better classification, and correct the existing prolific confusing eponymy.
A. Neetens, J. J. Martin
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Revue neurologique, 2011
Hereditary optic neuropathies, resulting from retinal ganglion cell degeneration, are a heterogeneous group of diseases ranging from asymptomatic forms to legal blindness.Two most frequent phenotypes are Kjer's disease, an autosomal dominant optic atrophy caused by OPA1 gene mutations, and Leber's disease due to maternally inherited mitochondrial DNA ...
C, Scherer +8 more
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Hereditary optic neuropathies, resulting from retinal ganglion cell degeneration, are a heterogeneous group of diseases ranging from asymptomatic forms to legal blindness.Two most frequent phenotypes are Kjer's disease, an autosomal dominant optic atrophy caused by OPA1 gene mutations, and Leber's disease due to maternally inherited mitochondrial DNA ...
C, Scherer +8 more
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The Early Phase in Leber Hereditary Optic Atrophy
Archives of Ophthalmology, 1977Clinical, ophthalmoscopic, perimetric, and color vision tests and visual evoked responses were recorded in symptomatic and asymptomatic eyes in five members of a family with Leber hereditary optic atrophy. The presymptomatic eyes showed abnormalities in the retinal nerve fiber layer. Optic nerve dysfunction was found before central vision failed.
E, Nikoskelainen +4 more
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HYDROXOCOBALAMIN IN THE TREATMENT OF LEBER'S HEREDITARY OPTIC ATROPHY
The Lancet, 1968Abstract Two patients with Leber's hereditary optic atrophy had been treated unsuccessfully with cyanocobalamin. The discovery that hydroxocobalamin is superior to cyanocobalamin in the treatment of tobacco amblyopia prompted a trial of this compound in the two patients. The dose was 1 mg. twice weekly in one, and 1 mg. weekly in the other.
W S, Foulds +4 more
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Hereditary Optic Atrophy (Leber's Disease)
American Journal of Ophthalmology, 1934Eight cases of hereditary atrophy of the optic nerve which occurred in five generations, involving three parent stocks, are discussed. The disease was traceable to one woman in whose descendants it recurred repeatedly, the other two stocks being free until contaminated by her stock.
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Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, 2010
Hereditary optic neuropathies are caused by mutations either in the nuclear or mitochondrial genome and lead to retinal ganglion cell death mediated by reduced oxidative phosphorylation, fragmentation of the mitochondrial network, and increased sensitivity to apoptosis.
C M, Poloschek, W A, Lagrèze
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Hereditary optic neuropathies are caused by mutations either in the nuclear or mitochondrial genome and lead to retinal ganglion cell death mediated by reduced oxidative phosphorylation, fragmentation of the mitochondrial network, and increased sensitivity to apoptosis.
C M, Poloschek, W A, Lagrèze
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