Literature DB >> 1003172

[Hereditary optic atrophies].

J Francois.   

Abstract

Congenital or infantile autosomal recessive optic atrophy is rare. The autosomal recessive syndrome of optic atrophy associated with diabetes is less rare. Dominant juvenile optic atrophy occurs frequently. Behr's heredo-familial optic atrophy, with its neurological mainfestations and its recessive autosomal inheritance, is rare. Sex-linked optic atrophy is exceptional. Leber's optic neuritis occurs frequently. Its heredity is apparently sex-linked, but no classical mode of transmission can be applied. Cytoplasmic heredity is the most probable.

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Mesh:

Year:  1976        PMID: 1003172

Source DB:  PubMed          Journal:  J Genet Hum        ISSN: 0021-7743


  3 in total

1.  Clinical approach to optic neuropathies.

Authors:  Raed Behbehani
Journal:  Clin Ophthalmol       Date:  2007-09

2.  Decreased thiosulfate sulfur transferase (rhodanese) in Leber's hereditary optic atrophy.

Authors:  B Cagianut; H P Schnebli; K Rhyner; J Furrer
Journal:  Klin Wochenschr       Date:  1984-09-17

3.  Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia.

Authors:  Anil Chekuri; Emily M Logan; Aram J Krauson; Monica Salani; Sophie Ackerman; Emily G Kirchner; Jessica M Bolduc; Xia Wang; Paula Dietrich; Ioannis Dragatsis; Luk H Vandenberghe; Susan A Slaugenhaupt; Elisabetta Morini
Journal:  Hum Mol Genet       Date:  2022-06-04       Impact factor: 5.121

  3 in total

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