Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

[Hereditary optic atrophies].

Journal De Genetique Humaine

|September 1, 1976

Summary

This summary is machine-generated.

This study examines various forms of optic atrophy, highlighting the rarity of congenital autosomal recessive types and the frequent occurrence of Leber's optic neuritis, suggesting cytoplasmic heredity.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

On the mechanism by which a heat shock induces trehalose accumulation in Saccharomyces cerevisiae.

The Biochemical journal·1992

Same author

Deletion of SNF1 affects the nutrient response of yeast and resembles mutations which activate the adenylate cyclase pathway.

Genetics·1991

Same author

The control of trehalose biosynthesis in Saccharomyces cerevisiae: evidence for a catabolite inactivation and repression of trehalose-6-phosphate synthase and trehalose-6-phosphate phosphatase.

Yeast (Chichester, England)·1991

Same author

Inhibition of glycogen synthesis in Saccharomyces cerevisiae by the mating pheromone alpha-factor.

The Journal of biological chemistry·1991

Same author

Characterization of trehalose-6-phosphate synthase and trehalose-6-phosphate phosphatase of Saccharomyces cerevisiae.

European journal of biochemistry·1989

Same author

The control of glycogen metabolism in yeast. 1. Interconversion in vivo of glycogen synthase and glycogen phosphorylase induced by glucose, a nitrogen source or uncouplers.

European journal of biochemistry·1988

Same journal

[Ultrasonic prenatal diagnosis of the Jarcho-Levin syndrome].

Journal de genetique humaine·1989

Same journal

[Genetic mapping of chromosome X: known localizations].

Journal de genetique humaine·1989

Same journal

[Animal models of gene therapy].

Journal de genetique humaine·1989

Same journal

[The bases of genetic therapy].

Journal de genetique humaine·1989

Same journal

Clinical and biological studies in 14 cases of Prader-Labhart Willi syndrome.

Journal de genetique humaine·1989

Same journal

Paroxysmal intracranial hypertension and oculoauriculovertebral dysplasia.

Journal de genetique humaine·1989

See all related articles

Area of Science:

Ophthalmology
Genetics
Neurology

Context:

Optic atrophy encompasses a spectrum of inherited and acquired conditions affecting vision.
Understanding the genetic basis and inheritance patterns is crucial for diagnosis and counseling.

Purpose:

To review and categorize different forms of hereditary optic atrophy.
To discuss the inheritance patterns, including autosomal recessive, dominant, sex-linked, and cytoplasmic.

Summary:

Congenital/infantile autosomal recessive optic atrophy is rare.
Autosomal recessive optic atrophy with diabetes is less common.
Dominant juvenile optic atrophy is frequent.
Behr's heredo-familial optic atrophy is rare with neurological signs.

Related Experiment Videos

Sex-linked optic atrophy is exceptional.

Leber's optic neuritis is frequent, with probable cytoplasmic heredity.

Impact:

Provides a classification of optic atrophy types based on inheritance.
Clarifies the relative frequencies and genetic mechanisms of various optic atrophies.
Aids in understanding the complex genetic landscape of optic neuropathies.