Renner, Agnes B. and Walter, Andreas and Fiebig, Britta S. and Jaegle, Herbert (2012) 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. DOCUMENTA OPHTHALMOLOGICA, 125 (1). pp. 81-89. ISSN 0012-4486, 1573-2622
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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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | ORNITHINE-DELTA-AMINOTRANSFERASE; CYSTOID MACULAR EDEMA; LONG-TERM REDUCTION; FOLLOW-UP; FLUORESCEIN ANGIOGRAPHY; RETINAL DEGENERATION; PIGMENT-EPITHELIUM; PROGRESSION; HYPERORNITHINEMIA; CHOROIDEREMIA; Gyrate atrophy; Hyperornithinemia; Fundus autofluorescence; Optical coherence tomography; Electroretinography; Retinal dystrophy |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Augenheilkunde Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 07 May 2020 07:03 |
| Last Modified: | 07 May 2020 07:03 |
| URI: | https://pred.uni-regensburg.de/id/eprint/18372 |
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