Anterior subcapsular plaque cataract in hyperornithinaemia gyrate atrophy--a case report.

Steel, David; Wood, Chris M.; Richardson, John D.; McCarthy, James

doi:10.1136/bjo.76.12.762

Cited by 5 publications

(2 citation statements)

References 2 publications

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“…Cataract surgery partially improved patient's vision. It was reported that cataract might cause early vision deterioration in GA [14] which leads to blindness between the third to sixth decades of life [3]. Ornithine-d-amino transferase deficiency is a systemic disorder, although the clinical phenotype is largely confined to the eye [15].…”

Section: Discussionmentioning

confidence: 99%

Osteoporosis Associated with Gyrate Atrophy: a Case Report

Isik

Serdar

2006

Doc Ophthalmol

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Gyrate atrophy (GA) is a rare degenerative, hereditary disease characterized by markedly high serum ornithine levels resulting from the deficiency of ornithine-delta-amino transferase (OAT), a mitochondrial matrix enzyme. Hyperornithinaemia is accompanied by lysinuria and reduced lysine plasma levels in GA. Type I collagen is known to play a role in osteoporosis pathogenesis. Lysine has a role in cross ligament formation of type I collagen, a bone matrix element, and thus, in bone strength. Although the most common complaint in GA is visual problems, the disease may include muscle involvement, as well. Reduced physical activity resulting from muscle involvement and hypolysinemia in GA may lead to osteoporosis. However, there is no data in the literature concerning the relation between GA and osteoporosis. In this report a GA case with early osteoporosis, besides visual deterioration and muscular signs, is reported, and the relation between GA and osteoporosis is emphasized for the first time.

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Section: Discussionmentioning

confidence: 99%

Osteoporosis Associated with Gyrate Atrophy: a Case Report

Isik

Serdar

2006

Doc Ophthalmol

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“…Loss of visual acuity may be secondary to macular oedema and/or photoreceptor cell loss. Early lens opacification is common and most affected individuals require cataract surgery at a relatively young age [12,13,14,15].…”

Section: Introductionmentioning

confidence: 99%

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy

Palmer

Stępień

Campbell

et al. 2023

Preprint

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Background: Gyrate atrophy of the choroid and retina is a rare autosomal recessive metabolic disorder caused by biallelic variants in the OAT gene, encoding the enzyme ornithine aminotransferase. Impaired enzymatic activity leads to systemic hyperornithaemia, which in turn underlies progressive chorioretinal degeneration. In this study, we describe the clinical and molecular findings in a cohort of individuals with gyrate atrophy. Methods: Study participants were recruited through a tertiary UK clinical ophthalmic genetic service. All cases had a biochemical and molecular diagnosis of gyrate atrophy. Retrospective phenotypic and biochemical data were collected using electronic healthcare records. Results: 18 affected individuals from 12 families (8 male, 12 female) met the study inclusion criteria. The median age at diagnosis was 8 years (range 10 months to 33 years) and all cases had hyperornithaemia (median: 800 micromoles/L; range: 458 to 1244 micromoles/L). Common features at presentation included high myopia (10/18) and nyctalopia (5/18). Ophthalmic findings were present in all study participants who were above the age of 6 years. One third of patients had co-existing macular oedema and two thirds developed pre-senile cataracts. Compliance with dietary modifications was suboptimal in most cases. A subset of participants had extraocular features including a trend towards reduced fat-free mass and developmental delay. Conclusions: Our findings highlight the importance of multidisciplinary care in families with gyrate atrophy. Secondary ophthalmic complications such as macular oedema and cataract formation are common. Management of affected individuals remains challenging due to the highly restrictive nature of the recommended diet and the limited evidence-base for current strategies.

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Choroidal Dystrophies

Grover¹,

Fishman²

2009

Ophthalmology

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Anterior subcapsular plaque cataract in hyperornithinaemia gyrate atrophy--a case report.

Cited by 5 publications

References 2 publications

Osteoporosis Associated with Gyrate Atrophy: a Case Report

Osteoporosis Associated with Gyrate Atrophy: a Case Report

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy

Choroidal Dystrophies

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