Gyrate Atrophy of the Choroid and Retina: A Review

Abstract

Gyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive genetic condition characterized by elevation of the plasma level of the amino acid ornithine due to deficiency of the enzyme ornithine ketoacid aminotransferase. Accumulation of ornithine occurs in various body tissues but leads primarily to characteristic ophthalmic manifestations including myopia, cataract, progressive chorioretinal atrophy, and macular changes. Patients usually present with night blindness that starts in the first decade of life followed by visual field constriction and eventually diminution of the central visual acuity and blindness. The condition has been reported worldwide and its differential diagnosis is broad and includes choroideremia and retinitis pigmentosa. Treatment currently depends on life-long dietary modifications including restriction of the amino acid arginine in diet. This article describes in detail the pathogenesis, clinical features, multimodal imaging findings, and treatment options for GA of the choroid and retina and its complications.

Characteristics of Cellular Infiltration into Posterior Vitreous in Eyes with Uveitis on the Classification Basis Assessed Using Optical Coherence Tomography

“…VKH disease is a representative case of diffuse granulomatous inflammation, which may have focal clusters of lymphocytes and epithelioid cells with pigment located between the retinal pigment epithelium and Bruch’s membrane called as Dalen–Fuchs nodules. 20 The heterogeneity of infectious uveitis and the presence of subtypes of granulomatous inflammation may support our results that differences between IFU and NIGU groups in the length of the smallest and the largest particles were not significant, although the number of vitreous particles and vitreous particle density in IFU group were higher than those in the NIGU group.…”

“…Besides tuberculosis, numerous other factors can also lead to ocular granulomatous inflammation, and these include infectious and noninfectious conditions such as syphilis, herpes viruses, CMV infection, toxoplasmosis, toxocariasis, sarcoidosis, multiple sclerosis, and VKH disease. 20 In the present study, the IFU group had several infectious diseases, as described above, which can cause granulomatous inflammation: CMV retinitis, VZV associated uveitis, acute retinal necrosis caused by VZV, ocular toxocariasis, and ocular tuberculosis. Especially, CMV retinitis was the majority of IFU groups in this study.…”

“…Moreover, granulomatous inflammation of the uvea can be even divided into three distinct morphologic categories: zonal, sarcoidal, and diffuse. 20 Tuberculous uveitis is histopathological representative of microbiologically proven cases and indicates zonal granulomatous inflammation of the uvea. Although fungal infections, foreign bodies, lymphomas, and tattoo-associated uveitis as well as sarcoidosis can be associated with granulomatous inflammation of the sarcoidal type.…”

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

“…Affected individuals usually present in the first or second decade of life, commonly with night vision problems and/or progressive myopia. [5,6,10,11]. Following this, concentric visual field loss is generally noted during the second decade of life.…”

“…These changes lead to a significant reduction in enzymatic activity resulting in the accumulation of ornithine in the plasma (hyperornithaemia), urine and cerebrospinal fluid of affected individuals [3,4]. Notably, high ornithine concentrations are associated with damage to retinal tissue and over time lead to progressive visual loss [5,6,7,8,9,10].…”