Classification of the Choroidal Atrophies

Krill, Alex E.; Archer, D. B.

doi:10.1016/0002-9394(71)90854-3

Cited by 76 publications

(33 citation statements)

References 23 publications

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“…Gyrate atrophy (GA) is a rare inherited form of chorioretinal degeneration, usually beginning in late childhood (1,2). The initial complaint of decreasing night vision is associated with the appearance of sharply demarcated, circular areas of chorioretinal atrophy in the midperiphery of the fundus.…”

mentioning

confidence: 99%

Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.

Valle¹,

Kaiser-Kupfer²,

Valle³

1977

Proc. Natl. Acad. Sci. U.S.A.

118

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Gyrate atrophy of the choroid and retina is an inherited form of chorioretinal degeneration associated with hyperornithinemia. We measured the activity of ornithine aminotransferase (L-ornitline2-oxo-acid Subsequently, a total of 30 patients with hyperomithinemia and GA have been reported (4-6) and the inheritance of this disorder has been shown to be autosomal recessive (4).Takki (2, 3) and others (7) have suggested that a deficiency of ornithine aminotransferase (OAT; L-ornithine:2-oxo-acid aminotransferase, EC 2.6.1.13) is responsible for GA. This mitochondrial matrix enzyme catalyzes the pyridoxal phosphate-dependent transamination of ornithine to glutamic -ysemialdehyde which is in spontaneous, nonenzymatic equilibrium with Al-pyrroline-5-carboxylic acid (8) (PC) (Fig. 1). No measurements of OAT activity in tissues or cells of GA patients have been published, however.t Previous studies (9) have shown that barely measurable levels of OAT activity are present in resting lymphocytes, but in association with phytohemagglutinin-stimulated transformation there is a 15-fold increase in the specific activity of lymphocyte OAT to levels that can be measured easily and reliably. Utilizing this response to transformation, we measured the activity of OAT in lymphocytes of a GA patient, her daughter, and normal individuals. We found a marked deficiency of OAT in transformed lymphocytes of the patient and intermediate values in those of the obligate heterozygote.The costs of publication of this article were defrayed in part by the payment of page charges. This article must therefore be hereby marked "advertisement" in accordance with 18 U. S. C. §1734 solely to indicate this fact. 5159CASE REPORT Our patient, a 34-year-old Brazilian woman of Portuguese descent, noted the onset of difficulty in night vision during the second decade and had had-bilateral posterior subcapsular cataracts removed at age 25 years. Ophthalmoscopic examination revealed sharply demarcated, whitish, confluent areas of chorioretinal atrophy in the midperiphery of the fundus extending toward the posterior pole. The atrophic areas had scalloped margins and were accompanied by a fine pigmentation of the macula. Her parents were unrelated; one of three siblings had progressive loss of vision beginning early in his third decade.The patient's daughter was 3 years old and had no physical or ophthalmological abnormalities. METHODSLymphocyte Culture. Peripheral blood lymphocytes were prepared from fresh, heparinized whole blood obtained from our patient, her daughter, and two male and one female healthy normal subjects whose ages ranged from 22 to 33 years. Lymphocytes were separated from other blood cells by centrifugation on Ficoll-Hypaque gradients and then washed three times in balanced salt solution (9).Washed lymphocytes were cultured at a density of 5 X 105 cells per ml in RPMI-1640 medium supplemented with 10% fresh plasma, 4 mM glutamine, penicillin (50 units/ml), and streptomycin (50 ,ug/ml). Fresh, pooled plasma for the culture medium ...

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Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.

Valle¹,

Kaiser-Kupfer²,

Valle³

1977

Proc. Natl. Acad. Sci. U.S.A.

118

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“…1 (Svensson, 1939;Krill and Archer, 1971) but in many cases a positive family history is lacking. The onset is probably similar to the central areolar variety, although symptoms may occur later when the macula is affected and the vision reduced.…”

Section: A Central Areolar Choroidal Dystrophymentioning

confidence: 99%

“…The electroretinogram is either normal or only slightly reduced, reflecting the extent of the disease (Krill and Archer, 1971;Carr et al, 1975).…”

Section: A Central Areolar Choroidal Dystrophymentioning

confidence: 99%

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Fluorescein angiography of the hereditary choroidal dystrophies.

Noble¹,

Carr²,

Siegel³

1977

British Journal of Ophthalmology

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“…(3) There is hemeralopia and the dark adaptation curve is monophasic and high [Saebö, 1948;François et al, 1960;Kurstjens, 19651. (4) There is acquired dyschromatopsia, which may be of the red-green axis [ V er riest, 1962], (5) The electroretinogram may be nor mal in the initial stage, but afterwards it deteriorates progressively and becomes ex tinguished [Bounds, 1954;François et al, 1956;Franceschetti and Dieterle, 1957;Kurstjens, 1965;Schäfer and Tenner, 1970], It seems that the scotopic components dis appear more rapidly than the photopic com ponents [Kurstjens, 1965;Schäfer and Ten ner, 1970], (6) The electro-oculogram is also serious ly pathologic [Krill and Archer, 1971). It is mostly extinguished [Kurstjens, 1965;Schmidt and Straub, 1970).…”

Section: Visual Functionsmentioning

confidence: 99%

Gyrate Atrophy of the Choroid and Retina

François¹

1979

Ophthalmologica

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Classification of the Choroidal Atrophies

Cited by 76 publications

References 23 publications

Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.

Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.

Fluorescein angiography of the hereditary choroidal dystrophies.

Gyrate Atrophy of the Choroid and Retina

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