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.