Fig 2 - uploaded by Andreas Schulze
Content may be subject to copyright.
Several chorioretinal atrophy with punched out lesions in the periphery of the retina of the left eye consistent with gyrate atrophy
Similar publications
Because of the similar phenotypes they generate and their proximate reported locations on Chromosome 7, we tested the recessive retarded hair growth (rhg) and frizzy (fr) mouse mutations for allelism, but found instead that these defects complement. To discover the molecular basis of rhg, we analyzed a large intraspecific backcross panel that segre...
Genetically determined ophthalmic diseases form a numerous and heterogenic group of disorders. Making the accurate clinical diagnosis of genetic eye disease is often a challenge for an ophthalmologist. In many cases, only genetic testing enables the establishment of the proper clinical diagnosis. Here we describe two ultra-rare diseases: gyrate atr...
Purpose: Gyrate atrophy (GA) is a rare chorioretinal degeneration that results in the deterioration of night and peripheral vision, eventually leading to blindness. The disorder is caused by mutations in the gene encoding ornithine aminotransferase (OAT), causing increased levels of plasma ornithine. Treatment revolves around lowering plasma ornith...
To report a case of gyrate atrophy of the choroid and retina associated with retinal detachment. Hyperornithinemia confirmed the diagnosis of gyrate atrophy. Pars plana vitrectomy with silicone oil infusion was performed with good anatomical results, despite the persistence of low visual acuity. Retinal detachment is a rare complication of gyrate a...
Citations
Purpose
Description of retinal phenotype by structural and functional testing, ornithine plasma levels and mutational data of OAT gene in patients with Gyrate Atrophy (GA).
Methods
Ophthalmologic examination, fundus photography (CFP), autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT), Goldmann perimetry (GP), full-field electroretinogram (ffERG) and chromatic perimetry (CP) testing were performed. Ornithine plasma levels were measured. Sanger sequencing mutational analysis of the coding exons and exon-intron junctions of the OAT gene were analyzed.
Results
Twelve eyes of seven Mexican patients with GA were included. CFF showed peripheric patches of chorioretinal atrophy; FAF revealed peripheric oval areas of hypoautofluorescence; SD-OCT exhibited outer retinal tubulations in 58%, cystoid macular edema in 50%, epiretinal membrane in 42%, foveoschisis and staphyloma in 17%, and hyperreflective deposits in 100% of the eyes; GP showed constricted visual fields in 100% of the eyes; ffERG revealed preserved photopic response in 17% and preserved scotopic response in 17% of the eyes; CP exposed a deficit in generalized response of rods and cones in 100% of the eyes. Mean ornithine plasma levels were 509.5 µmol/L. One patient with genetic confirmation of GA had normal ornithine plasma levels (48 µmol/L). Molecular findings in OAT gene detected two novel pathogenic variants: c.796 C > T (p.Gln266*) and c.721_722dupCC (p.Asp242ArgfsTer6).
Conclusion
This study provides new information regarding functional and structural diagnosis in patients with GA, expands the understanding of retinal phenotype in patients with GA, reports two novel mutations and presents the first case of GA confirmed by genetic testing with normal ornithine levels.
Background: Gyrate atrophy of the choroid and retina (GA) is a rare autosomal recessive disorder characterized by nyctalopia, myopia, sharply demarcated expanding peripheral chorioretinal atrophic lesions, early cataract, progressive visual loss and hyperornithinemia. Only three cases of GA associated with rhegmatogenous retinal detachments (RRD) have been reported. The genotype-phenotype correlation of RRD in GA is limited by lack of genetic information in the previously reported cases. Here we report two young sisters with a characteristic GA phenotype associated with a novel variant in the ornithine aminotransferase gene (OAT), in whom one developed unilateral RRD at the age of 9 years.
Materials and Methods: Retrospective report of two cases including genetic analysis and multimodal retinal imaging.
Results: A 9-year-old Saudi girl presented with a funnel-shaped RRD, extensive proliferative vitreoretinopathy, peripheral choroidal detachment and neovascular glaucoma in her right eye. Fundus examination of her left eye showed an attached retina with sharply-demarcated peripheral chorioretinal atrophic patches suggestive of GA. Whole exome sequencing confirmed GA by revealing a homozygous c.980 C > G (p. Pro327Arg) variant in exon 8 of OAT. The RRD was inoperable. The chorioretinal lesions in the left eye enlarged slowly over 3 years of follow up. Examination of the proband’s older sister revealed a similar but more advanced GA phenotype in both eyes.
Conclusions: A characteristic GA phenotype associated with a novel variant in OAT is reported. This variant might be associated with childhood-onset RRD in the proband.
Choroideraemia is an X-linked progressive degeneration of the retina and the choroid [1–3]. The primary site of the disease is the retinal pigment epithelium (RPE), outer retina and choroid [2, 4]. The specific features of affected males and female carriers were first described by C and RJP McCullough, in their 1948 report on a large Canadian family in which choroideraemia segregated [3]. This report also underlined that this condition is different from retinitis pigmentosa (RP) [3]. Nevertheless, both choroideraemia and RP patients suffer from initial night blindness and subsequent progressive concentric constriction of visual fields. An exact incidence is unknown, although the condition is certainly not as frequent as the different subtypes of RP taken together.
In this case study we report a 7-year old child who was first diagnosed with total retinal detachment and later with Gyrate Atrophy. The patient applied to our clinic with visual loss on his right eye without any history of trauma. The biomicroscobic evaluation fundoscopy showed a total retinal detachment on the right eye. A retinal detachment surgery was performed on the right eye. After the surgery re-detachment due to a retinal hole occurred, and the patient lost the light sense. The patient was considered inoperable.
