Atrophia gyrata of the choroid and retina

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Classification according to ICD-10
E72.4 Ornithine metabolism disorders
ICD-10 online (WHO version 2019)

The atrophia gyrata of the choroid and retina is a very rare congenital disease with the main features retinal dystrophy with progressive atrophy of the retina and choroid , myopia and early onset of a cataract .

Synonyms are: HOGA; Hyperornithinemia; Hyperornithinemia - atrophia gyrata of the choroid and retina; Ornithine aminotransferase deficiency; english Gyrate atrophy of the choroid and retina ; GACR

The first description of the clinical picture comes from the year 1896 by Ernst Fuchs .

The connection with the enzyme defect of the ornithine metabolism was established by the Finnish ophthalmologists O. Simell and K. Takki in 1973.

distribution

The frequency in Finland is given as 1 in 50,000, so far about 200 people have been reported. Inheritance is autosomal - recessive .

root cause

The disease are mutations in OAT - gene on chromosome 10 locus q26.13 based on which the enzyme ornithine aminotransferase ( mitochondrial ornithine transporter encoded).

The metabolic defect leads to hyperornithinaemia.

Clinical manifestations

Clinical criteria are:

There are also great differences in the extent of changes within an affected family.

diagnosis

The diagnosis results from the ophthalmological examination u. a. with ophthalmoscopy ( retinopathy with arched borders), optical coherence tomography (macular edema), autofluorescence of the fundus (absent in atrophied areas), electroretinogram (early amplitude reduction).

The ornithine level in the blood serum , urine and cerebrospinal fluid is increased by 10 to 20 times. The diagnosis can be confirmed by human genetic testing or by measuring the enzyme activity in lymphocytes or cultured fibroblasts.

Differential diagnosis

The following are to be distinguished:

therapy

A causal treatment is not yet known, a diet low in arginine or a diet avoiding protein can delay the course. An intravitreal dexamethasone implant is said to provide good results against macular edema.

literature

Individual evidence

  1. ↑ a b c Atrophia gyrata of the choroid and retina. In: Orphanet (Rare Disease Database).
  2. ↑ a b c d e Eyewiki
  3. ^ E. Fuchs: About two diseases related to retinitis pigmentosa (retinitis punctata albescens and atrophia gyrata chorioideae et retinae). In: Archiv für Augenheilkunde Vol. 32, S. 111, 1896
  4. ↑ O. Simell, K. Takki: Raised plasma ornithine and gyrate atrophy of the choroid and retina. In: The Lancet . Volume 1, Number 7811, May 1973, pp. 1031-1033, doi: 10.1016 / s0140-6736 (73) 90667-3 , PMID 4122112 .
  5. ↑ Gyrate atrophy of choroid and retina with or without ornithinemia.  In: Online Mendelian Inheritance in Man . (English)
  6. ^ V. Raval, A. Kapoor, S. Nayak, S. Rao, T. Das: Optical Coherence Tomography Angiography and Macular Vessel Density Analysis of Cystoid Macular Edema in Gyrate Atrophy. In: Ophthalmic surgery, lasers & imaging retina. Volume 50, Number 7, July 2019, pp. 423-427, doi: 10.3928 / 23258160-20190703-03 , PMID 31344241 .
  7. ↑ CH Meyer, H. Hoerauf, U. Schmidt-Erfurth, J. Roider, C. Scholz, H. Laqua, R. Birngruber: Optical coherence tomography and angiography topographic the example of gyrate atrophy correlation of morphological changes in perizentraler Aderhautdystrophie. Correlation of morphological changes in pericentral choroidal dystrophy. In: Der Ophthalmologe: Journal of the German Ophthalmological Society. Volume 97, Number 1, January 2000, pp. 41-46, doi: 10.1007 / s003470050009 , PMID 10663789 .
  8. ↑ Y. Abdelmassih, S. El-Khoury, CG Cherfan: Dexamethasone implant for the treatment of macular edema gyrate atrophy associated. In: Journal francais d'ophtalmologie. Volume 42, number 1, January 2019, pp. E1 – e4, doi: 10.1016 / j.jfo.2018.03.029 , PMID 30559013 .

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