Am J Ophthalmol. 1979 Nov;88(5):868-75.

A clinicopathologic study of autosomal dominant optic atrophy.

Johnston PB, Gaster RN, Smith VC, Tripathi RC.

Abstract

Of a family with 40 members, 12 had autosomal dominant optic atrophy. The affected members were aware of reduced vision from the first decade. Visual loss was moderate to severe, 6/12 (20/40) to 3/60 (10/200). The affected members showed similar centrocecal scotomata. Most affected patients had severe unclassified color defects. Electroretinography measurements were normal in all but one patient who had a small reduction in the scotopic response. The pathologic changes in a patient with autosomal dominant optic atrophy showed diffuse atrophy of the ganglion cell layer of the retina with a loss of myelin and nerve tissue within the optic nerves. We suggest that autosomal dominant atrophy is a primary degeneration of retinal ganglion cells.

PMID:: 315716; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Other Literature Sources

Medical

optic atrophy type 1 - Genetics Home Reference

Supplemental Content

Save items

Related citations in PubMed

Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy. [Acta Ophthalmol (Copenh). 1983]
Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy.
Kjer P, Jensen OA, Klinken L. Acta Ophthalmol (Copenh). 1983 Apr; 61(2):300-12.
Colour vision in a pedigree with autosomal dominant optic atrophy. [Mod Probl Ophthalmol. 1976]
Colour vision in a pedigree with autosomal dominant optic atrophy.
Ohba N, Imamura PM, Tanino T. Mod Probl Ophthalmol. 1976; 17:315-9.
Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy. [Ophthalmology. 2006]
Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.
Nakamura M, Lin J, Ueno S, Asaoka R, Hirai T, Hotta Y, Miyake Y, Terasaki H. Ophthalmology. 2006 Mar; 113(3):483-488.e1.
Review Hereditary degeneration of the optic nerve (hereditary optic atrophy). [Int Ophthalmol Clin. 1968]
Review Hereditary degeneration of the optic nerve (hereditary optic atrophy).
Francois J. Int Ophthalmol Clin. 1968 Winter; 8(4):999-1054.
Review Do we really understand the difference between optic nerve hypoplasia and atrophy? [Eye (Lond). 1992]
Review Do we really understand the difference between optic nerve hypoplasia and atrophy?
Hoyt CS, Good WV. Eye (Lond). 1992; 6 ( Pt 2):201-4.

See reviews... See all...

Cited by 17 PubMed Central articles

A new vicious cycle involving glutamate excitotoxicity, oxidative stress and mitochondrial dynamics. [Cell Death Dis. 2011]
A new vicious cycle involving glutamate excitotoxicity, oxidative stress and mitochondrial dynamics.
Nguyen D, Alavi MV, Kim KY, Kang T, Scott RT, Noh YH, Lindsey JD, Wissinger B, Ellisman MH, Weinreb RN, et al. Cell Death Dis. 2011 Dec 8; 2:e240. Epub 2011 Dec 8.
Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations. [Eye (Lond). 2011]
Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations.
Yu-Wai-Man P, Bailie M, Atawan A, Chinnery PF, Griffiths PG. Eye (Lond). 2011 May; 25(5):596-602. Epub 2011 Mar 4.
Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy. [Mol Neurodegener. 2010]
Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.
Fuhrmann N, Schimpf S, Kamenisch Y, Leo-Kottler B, Alexander C, Auburger G, Zrenner E, Wissinger B, Alavi MV. Mol Neurodegener. 2010 Jun 14; 5:25. Epub 2010 Jun 14.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Compound
PubChem chemical compound records that cite the current articles. These references are taken from those provided on submitted PubChem chemical substance records. Multiple substance records may contribute to the PubChem compound record.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance
PubChem chemical substance records that cite the current articles. These references are taken from those provided on submitted PubChem chemical substance records.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

A clinicopathologic study of autosomal dominant optic atrophy.
A clinicopathologic study of autosomal dominant optic atrophy.
Am J Ophthalmol. 1979 Nov ;88(5):868-75.

PubMed
Affective beneficence of vigorous physical activity.
Affective beneficence of vigorous physical activity.
Med Sci Sports Exerc. 1985 Feb ;17(1):94-100.

PubMed
Neurotransmitters decrease the calcium ocmponent of sensory neurone action poten...
Neurotransmitters decrease the calcium ocmponent of sensory neurone action potentials.
Nature. 1978 Dec 21-28 ;276(5690):837-9.

PubMed
Pompholyx (dyshidrosis). A case study.
Pompholyx (dyshidrosis). A case study.
J Am Podiatr Med Assoc. 1985 Mar ;75(3):155-8.

PubMed
Reduced training intensities and loss of aerobic power, endurance, and cardiac g...
Reduced training intensities and loss of aerobic power, endurance, and cardiac growth.
J Appl Physiol. 1985 Feb ;58(2):492-9.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

A clinicopathologic study of autosomal dominant optic atrophy.

Abstract

Publication Types, MeSH Terms

Publication Types

MeSH Terms

LinkOut - more resources

Other Literature Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Cited by 17 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information