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Results for “Optic Atrophy”

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At least 523 records · Page 29Linked to original sources
PubMed1993

Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome.

Three affected children from an inbred family had microcornea, microcephaly, congenital cataract, severe mental retardation, retinal dystrophy, optic nerve atrophy, hypothalamic hypogenitalism, and agenesis of the corpus callosum. The disorder is presumably autosomal recessive; no identical syndrome has been described, but we consider syndromes with similar features.

Adolescent↗
PubMed1990

[Leber's hereditary optic atrophy. A hereditary disease caused by mitochondrial DNA mutation].

Leber's hereditary optic neuropathy is a genetic disorder characterized by sudden bilateral loss of vision. It is transmitted exclusively through females (matroclinous inheritance) due to a mutation in mitochondrial DNA (mtDNA), most frequently a GC----AT substitution of base pair no. 11778 ('The Wallace mutation'). All children of homoplasmic female carriers inherit the disease gene. Penetrance is incomplete, but high in males. Genetic heterogeneity has been reported, as has heteroplasmy. The nature of the mutation and the degree of heteroplasmy have prognostic value, and genetic counselling as well as clinical evaluation should therefore include mtDNA analysis. Diagnostic mtDNA analysis is illustrated for three Danish patients, one of whom is without known affected relatives. All three were homoplasmic for the Wallace mutation. Neither prophylaxis nor therapy, by medication are possible as yet. Loss of vision may be prevented, or delayed, if at-risk individuals refrain from smoking and consumption of certain foodstuffs.

Adolescent↗
PubMed1994

Disc hypoplasia and optic atrophy.

The active duty military population serving within aviation-related specialties is generally considered healthy. Our patient revealed a history of closed head trauma at age 15, with no other complaints. A deliberate and comprehensive multidisciplinary clinical evaluation using electrodiagnostic apparatus, MRI and automated visual fields enabled us to diagnose two separate, yet interesting pathological conditions in an apparently healthy individual. Optic disc hypoplasia in one eye and bowtie atrophy in the other revealed very interesting visual field defects as well as characteristic physical findings. Disc hypoplasia and optic atrophy related to trauma is discussed in this case of congenital disc hypoplasia and bowtie atrophy. The aeromedical disposition of the patient, as related to these disorders will also be discussed.

Adult↗