Gyrate atrophy of the choroid and retina: 15 Japanese patients.

Hayasaka, Seiji; Shiono, Takashi; Mizuno, Katsuyoshi; Sasayama, C; Akiya, Shinobu; Tanaka, Yasuhiko; Hayakawa, Mutsuko; Miyake, Yoichi; Ohba, Norio

doi:10.1136/bjo.70.8.612

Cited by 11 publications

(17 citation statements)

References 7 publications

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“…Thereafter, many authors (19 -31) have reported on patients with the HHH syndrome. Clinical symptoms, such as episodes of confusion, lethargy and coma resulting from hyperammonaemia, Kaiser-Kupfer et al (76) Saito et al (50) Hayasaka et al (54) Takki & Simell (46) Shih et al (3) Fig. 2.…”

Section: Hyperornithinaemia-hyperammonaemiahomocitrullinuria Syndromementioning

confidence: 99%

“…The numbers in parentheses indicate numbers of subjects. This schema is based on the studies of Shih et al ( 3 ) , Takki & Simell ( 46 ) , Hayasaka et al ( 54 ) , Saito et al ( 50 ) and Kaiser-Kupfer et al ( 76 ) . ○, Normal retina; ♦, very slow progression of retinal degeneration; ●, retinal degeneration; on diet, arginine-restricted diet.…”

Section: Hyperornithinaemia–hyperammonaemia–homocitrullinuria Syndromementioning

confidence: 99%

“…Some patients with GA complained of visual disturbances or night blindness in childhood. The visual acuities decreased to 0·2 or worse in the second or third decade of life ( 54 ) . Myopia developed late in the first decade ( 44 , 54 ) .…”

Section: Gyrate Atrophy Of the Choroid And Retinamentioning

confidence: 99%

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Retinal risks of high-dose ornithine supplements: a review

2011

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We reviewed the literature on ornithine supplementation and related topics. Nutritionists and physicians have reported that ornithine supplementation is useful. Paediatricians and biochemists have reported that ornithine is supplemented for NH 3 detoxification in the hyperornithinaemia -hyperammonaemia -homocitrullinuria (HHH) syndrome. In contrast, ophthalmic researchers have reported retinotoxicity associated with high-dose ornithine. In vivo and in vitro experiments have shown that high concentrations of ornithine or its metabolites are toxic to the retinal pigment epithelial (RPE) cells. Long-term (exceeding a few years) and high concentrations (exceeding 600 mmol/l) of ornithine in the blood induce retinal toxicity in gyrate atrophy of the choroid and retina (GA). Intermittent high levels of ornithine do not lead to retinal lesions. Constant blood ornithine levels between 250 and 600 mmol/l do not induce retinal lesions or cause a very slowly progressive retinal degeneration. Blood ornithine levels below 250 mmol/l do not produce retinal alteration. We concluded that short-term, low-dose or transient high-dose ornithine intake is safe for the retina; its nutritional usefulness and effect on NH 3 detoxification are supported by many researchers, but the effect may be limited; and long-term, high-dose ornithine intake may be risky for the retina. Patients with GA should avoid taking ornithine; amino acid supplementation should be administered carefully for patients with the HHH syndrome, relatives of patients with GA (heterozygotes) and subjects with RPE lesions; and blood ornithine levels and retinal conditions should be evaluated in individuals taking long-term, high-dose ornithine.

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Section: Hyperornithinaemia-hyperammonaemiahomocitrullinuria Syndromementioning

confidence: 99%

Section: Hyperornithinaemia–hyperammonaemia–homocitrullinuria Syndromementioning

confidence: 99%

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Retinal risks of high-dose ornithine supplements: a review

2011

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“…Hayasaka et al [31] examined 15 patients with gyrate atrophy and found an even worse visual function (VA and visual field) compared to similarly affected Finnish patients reported by Takki and Milton. In our patient, the ERG revealed surprisingly wellpreserved rod and cone responses, more than expected in view of the fundus changes and age of the patient.…”

Section: Discussionmentioning

confidence: 84%

Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation

2012

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We report the clinical and genetic data obtained at a 17-year follow-up examination of a patient with gyrate atrophy, without an arginine-restricted diet. Patient examinations included visual acuity (VA), perimetry, biomicroscopy, funduscopy, fundus photography, fundus autofluorescence (FAF), spectral-domain optical coherence tomography (OCT), and standard full-field electroretinography (ERG). Blood samples were taken for measurement of serum ornithine level and molecular genetic analysis of the OAT gene. The female was 22 years of age when gyrate atrophy was diagnosed based on peripheral chorioretinal atrophy and an increased ornithine level. Reexamination after 17 years revealed a reduced VA (0.25 OU), dense cataract, extensive peripheral chorioretinal atrophy, a further increased ornithine level, but only slow progression of visual field constriction, and still detectable ERG amplitudes. FAF was absent in the atrophic periphery and almost homogeneous at the posterior pole except parafoveally. OCT showed interruption of the foveal inner/outer segment junction and parafoveal microcystoid spaces. After cataract surgery, VA increased to the same values as those found at the age of 22 years (0.5 OD, 0.6 OS). Molecular analysis revealed a new deletion c.532_536delTGGGG (p.Trp178X) and a known mutation c.897C>G (p.Tyr299X) in the OAT gene. Although the patient had refused to diet during her first 39 years of life, the gyrate atrophy showed a very slow progression. FAF allows evaluating the integrity of the retinal pigment epithelium and may help to delimit gyrate atrophy from choroideremia. Interruption of foveal inner/outer segment junction and cystoid macula edema appears in gyrate atrophy.

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“…Der Fundus oculi ist gekennzeichnet durch eine zunächst fleckförmige scharf begrenzte Atrophie des Pigmentepithels, der Chorioidea und der Retina. Später kommt es zu einer Vergrößerung und Verschmelzung der Herde mit einem bemerkenswerten Muster (Atrophia gyrata) (20,22,28). Eine proteinarme Kost unter Zugabe der essentiellen Amisäuren mit einer oralen Gabe von alpha-Aminobuttersäure führte zu einer Normalisierung der Plasma-Ornithinkonzentration (63,64) und zu einem Stillstand des atrophischen Prozesses mit einem Fall (63) nicht jedoch bei einem anderen (64).…”

Section: Hyperornithinämie Mit Gyrater Retinaund Chorioidea-atrophieunclassified

Diagnostik angeborener Aminoazidopathien durch phänotypische Merkmale (Urin- oder Körpergerüche, Haut-, Haare-, Augensymptome oder Skelettveränderungen)

Cantani¹

1989

Klin Padiatr

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Gyrate atrophy of the choroid and retina: 15 Japanese patients.

Cited by 11 publications

References 7 publications

Retinal risks of high-dose ornithine supplements: a review

Retinal risks of high-dose ornithine supplements: a review

Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation

Diagnostik angeborener Aminoazidopathien durch phänotypische Merkmale (Urin- oder Körpergerüche, Haut-, Haare-, Augensymptome oder Skelettveränderungen)

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