Ophthalmology. 1978 Sep;85(9):918-28.

Hyperornithinemia and gyrate atrophy of the choroid and retina.

McCulloch JC, Arshinoff SA, Marliss EB, Parker JA.

Abstract

The diagnosis of hyperornithinemia and gyrate atrophy (HOGA) depends upon the presence of five characteristic features: (1) typical chorioretinal lesions, (2) high myopia, (3) cataracts, (4) hyperornithinemia, and (5) autosomal recessive inheritance. We have seen three patients and described four new findings: (1) decreased whole blood glutamic acid, (2) low normal intelligence, (3) hepatic mitochondrial changes, and (4) urinary excretion of ornithine methyl ester. Investigations of amino acid metabolism in vivo are consistent with the presence of a defect in ornithine keto-acid transaminase.

PMID:: 733185; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Medical

Supplemental Content

Save items

Related citations in PubMed

Gyrate atrophy of the choroid and retina with hyperornithinemia HOGA. [Birth Defects Orig Artic Ser. ...]
Gyrate atrophy of the choroid and retina with hyperornithinemia HOGA.
Takki K, Simell O. Birth Defects Orig Artic Ser. 1976; 12(3):373-84.
Amino-acid metabolism and liver ultrastructure in hyperornithinemia with gyrate atrophy of the choroid and retina. [Metabolism. 1979]
Amino-acid metabolism and liver ultrastructure in hyperornithinemia with gyrate atrophy of the choroid and retina.
Arshinoff SA, McCulloch JC, Matuk Y, Phillips MJ, Gordon BA, Marliss EB. Metabolism. 1979 Oct; 28(10):979-88.
Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina. [Am J Hum Genet. 1978]
Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.
Shih VE, Berson EL, Mandell R, Schmidt SY. Am J Hum Genet. 1978 Mar; 30(2):174-9.
Review Gyrate atrophy of the choroid and retina. [Prog Clin Biol Res. 1982]
Review Gyrate atrophy of the choroid and retina.
Valle D, Kaiser-Kupfer M. Prog Clin Biol Res. 1982; 82:123-34.
Review Gyrate atrophy of the choroid and retina. Approaches to therapy. [Int Ophthalmol. 1981]
Review Gyrate atrophy of the choroid and retina. Approaches to therapy.
Weleber RG, Kennaway NG, Buist NR. Int Ophthalmol. 1981 Aug; 4(1-2):23-32.

See reviews... See all...

Cited by 7 PubMed Central articles

Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report. [J Med Case Rep. 2007]
Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report.
Javadzadeh A, Gharabaghi D. J Med Case Rep. 2007 Jun 12; 1:27. Epub 2007 Jun 12.
A mouse model of gyrate atrophy of the choroid and retina. Early retinal pigment epithelium damage and progressive retinal degeneration. [J Clin Invest. 1996]
A mouse model of gyrate atrophy of the choroid and retina. Early retinal pigment epithelium damage and progressive retinal degeneration.
Wang T, Milam AH, Steel G, Valle D. J Clin Invest. 1996 Jun 15; 97(12):2753-62.
Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6. [Am J Hum Genet. 1980]
Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6.
Kennaway NG, Weleber RG, Buist NR. Am J Hum Genet. 1980 Jul; 32(4):529-41.

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.
Compound (MeSH Keyword)
PubChem chemical compound records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Substance
PubChem chemical substance records that cite the current articles. These references are taken from those provided on submitted PubChem chemical substance records.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Hyperornithinemia and gyrate atrophy of the choroid and retina.
Hyperornithinemia and gyrate atrophy of the choroid and retina.
Ophthalmology. 1978 Sep ;85(9):918-28.

PubMed
The importance of controlled passive mobilization on flexor tendon healing. A bi...
The importance of controlled passive mobilization on flexor tendon healing. A biomechanical study.
Acta Orthop Scand. 1981 Dec ;52(6):615-22.

PubMed
Psychodynamics and therapeutic aspects of anorexia nervosa. A study of family dy...
Psychodynamics and therapeutic aspects of anorexia nervosa. A study of family dynamics and prognosis.
Psychother Psychosom. 1981 ;36(1):8-16.

PubMed
Direct resorption of bone by human breast cancer cells in vitro.
Direct resorption of bone by human breast cancer cells in vitro.
Nature. 1978 Dec 14 ;276(5689):726-8.

PubMed
Noncompliance with arthritis drugs: magnitude, correlates, and clinical implicat...
Noncompliance with arthritis drugs: magnitude, correlates, and clinical implications.
J Rheumatol. 1981 Nov-Dec ;8(6):931-6.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Hyperornithinemia and gyrate atrophy of the choroid and retina.

Abstract

MeSH Terms, Substances

MeSH Terms

Substances

LinkOut - more resources

Medical

Supplemental Content

Save items

Related citations in PubMed

Cited by 7 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information