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2 edition of Gyrate atrophy of the choroid and retina associated with hyperornithinaemia. found in the catalog.

Gyrate atrophy of the choroid and retina associated with hyperornithinaemia.

Kirsti Takki

Gyrate atrophy of the choroid and retina associated with hyperornithinaemia.

by Kirsti Takki

  • 306 Want to read
  • 3 Currently reading

Published by Medical Faculty of theUniversity of Helsinki in Helsinki .
Written in English


ID Numbers
Open LibraryOL21259573M
ISBN 109519904662

Takki K Gyrate atrophy of the choroid and retina associated with hyperornithinaemia. Br J NY McGraw-Hill Book Co; Takki K Gyrate atrophy of the choroid and retina associated with hyperornithinaemia. Br J. In gyrate atrophy of the choroid and retina with hyperornithinaemia (GA), a genetically determined deficiency of ornithine {3}d‐aminotransferase activity leads to high ornithine concentrations in body fluids.

  The choroid detaches from the underlying sclera with an associated accumulation of serum-like fluid or blood. Causes of choroidal detachment include a low intraocular pressure associated with eye surgery, blunt trauma, inflammatory diseases (eg, scleritis), intraocular tumours, uveal effusion syndrome, and treatment with acetazolamide [ 1 ]. Serum analysis was done for ornithine levels, which showed hyperornithinaemia ( and µmol/l in the elder and younger sister, respectively) consistent with gyrate atrophy (GA) of the choroid. Both the sisters were prescribed vitamin B6 and a restricted protein diet to which they responded very well.

Gyrate atrophy (GA) of the Choroid and Retina was first described by Fuchs in [] Human hereditary deficiency of ornithine aminotransferase (OAT) activity is transmitted as an autosomal recessive trait,[] and results in 10 to fold increased level of plasma ornithine and is shown to be associated with GA.[] The initial complaint of decreasing visual acuity and night vision is followed by. We studied 21 patients with gyrate atrophy of the choroid and retina and hyperornithinemia. Although the patients were not weak, type 2 muscle fibers were almost universally atrophic and had tubular aggregates. Gyrate atrophy is the first disease in which females are shown to have tubular aggregates; the sexes were affected equally. In gyrate atrophy the number of type 2 fibers decreases with age.


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Gyrate atrophy of the choroid and retina associated with hyperornithinaemia by Kirsti Takki Download PDF EPUB FB2

Gyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision with this disorder have an ongoing loss of cells (atrophy) in the retina, which is the specialized light-sensitive tissue that lines the back of the eye, and in a nearby tissue layer called the choroid.

Gyrate atrophy of the choroid and retina associated with hyperornithinaemia. Barrada A, Kelsey JH. New clinical test of retinal function based upon the standing potential of the eye. Räihä NC, Bickel H. Ornithine-ketoacid aminotransferase in human liver with reference to patients with hyperornithinaemia and familial protein Cited by:   Gyrate atrophy of the choroid and retina is one of the tapetoretinal dystrophies, and was first recognized as a clinical entity and described by Cutler () and Fuchs ().

The disease is progressive, and begins in childhood with atrophy of the choroid and by: 2. Gyrate atrophy of the choroid and retina is an inherited disorder of protein metabolism characterized by progressive vision loss. Symptoms such as nearsightedness (), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision develop during time, the field of vision progressively narrows, resulting in tunnel vision.

The case of a year-old woman with gyrate atrophy of the choroid and retina is documented. Additional features in this case, to the authors' knowledge not previously described in gyrate atrophy.

Gyrate atrophy of the choroid and retina Article (PDF Available) in Investigative Ophthalmology & Visual Science 20(2) March with Reads How we measure 'reads'. Takki K. Gyrate atrophy of the choroid and retina associated with hyperornithinaemia. Br J Ophthalmol. Jan; 58 (1):3– [PMC free article] Takki KK, Milton RC.

The natural history of gyrate atrophy of the choroid and retina. Ophthalmology. Apr; 88 (4)– A 10 year old white girl is presented with gyrate atrophy of the choroid and retina (atrofia gyrata).

She also showed reticular pigmentations at the level of the retinal pigment epithelium temporal to both maculas. A generalized hyperornithinaemia was demonstrated in this patient and cultured fibroblasts established the underlying ornithine-keto-acid-transaminase (OKT) deficiency for the first.

In patients with gyrate atrophy of the choroid and retina, Mitchell et al. () identified a mutation in the OAT gene (). Brody et al. () discovered and characterized the molecular defect in 21 newly recognized OAT alleles. They determined the consequences of these and 3 previously described mutations on OAT mRNA, antigen, and enzyme activity in cultured fibroblasts.

This is a PDF-only article. The first page of the PDF of this article appears above. Takki K. Gyrate atrophy of the choroid and retina associated with hyperornithinaemia. Br J Ophthalmol. Jan; 58 (1):3– [PMC free article] []Takki K, Simell O. Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia.

Gyrate atrophy (GA) is an inherited chorioretinal degeneration associated with hyperornithinemia. The enzyme defect is a deficiency of ornithine-δ. Gyrate atrophy of the choroid and retina associated with hyperornithinaemia.

External Links ; Br J Ophthalmol. January; 58(1): 3– PMCID: PMC Gyrate atrophy of the choroid and retina associated with hyperornithinaemia.

Bickel H. Ornithine-ketoacid aminotransferase in human liver with reference to patients with. By comparing the results obtained from normal, healthy subjects to those of patients exhibiting retinal abnormalities, insight may be gained into both the underlying pathophysiology of those abnormalities as well as their effects upon visual function.

Here, we report data obtained from a patient with gyrate atrophy of the retina and choroid. 44 Takki, K () Gyrate atrophy of the choroid and retina associated with hyperornithinemia.

Br J Ophthal 3 – 45 Takki, K & Simell, O () Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinemia. Gyrate atrophy of the choroid and retina (GA) is a rare autosomal recessive chorioretinal degeneration characterized by myopia, cataract, varying degrees of night blindness, and progressive constriction of visual fields associated with chorioretinal atrophy resulting.

Christopher R, Babu SVS, Shetty KT: Hyperornithinaemia associated with gyrate atrophy of the choroid and retina: Two cases from India. Ann Clin BiochemDISCUSSION: GYRATE ATROPHY (GA) of the choroid and retina is a rare, autosomal recessive disease causing progressive chorioretinal degeneration resulting in is caused by a deficiency of ornithine -aminotransferase (OAT) (1).

It was first described as "atypical retinitis pigmentosa" by Jacobsohn in   Gyrate Atrophy of Choroid and Retina (or Gyrate Atrophy) is a rare, autosomal recessive disorder causing degeneration of the choroid and retina of eye.

It is a congenital condition that presents signs and symptoms in newborns and infants. In gyrate atrophy of the choroid and retina with hyperornithinaemia (GA), inherited deficiency of ornithine-o-aminotransferase leads to progressive fundus destruction and atrophy of type II.

Wang T, Steel G, Milam AH, Valle D. Correction of ornithine accumulation prevents retinal degeneration in a mouse model of gyrate atrophy of the choroid and retina.

Proc Natl Acad Sci USA. Feb 1;97(3) Weleber RG, Kennaway NG. Clinical trial of vitamin B6 for gyrate atrophy of the choroid and retina. Ophthalmology. Apr;88(4.Hyperornithinaemia due to ornithine aminotransferase (OAT) deficiency results in gyrate atrophy of the choroid and retina (GA).

Although the progression of the retinal degeneration is highly variable, most GA patients lose all functional vision in middle age ( years).Gyrate atrophy (GA) of the choroid and retina is a rare, autosomal recessive inherited disease causing progressive chorioretinal degeneration resulting in blindness.

The primary defect is due to a deficiency of the enzyme ornithine Δ-aminotransferase, which is responsible for markedly elevated levels of ornithine in plasma and other body fluids.