Atypical Presentation and Delayed Diagnosis of Gyrate Atrophy: Case Reports of Two Siblings.

Gyrate atrophy (GA) is a hereditary condition characterized by ornithine aminotransferase deficiency-related large areas of retinal pigment epithelium and choriocapillaris lobular-shaped atrophy in the peripheral retina. In this report, we present a case of atypical presentation of GA. The aim of this report is to present two siblings, one of which was associated with a lamellar macular hole and with a history of previous diagnosis of retinitis pigmentosa. The delayed diagnosis of GA was made only after her brother, who was 5 years younger than her was diagnosed with GA. In addition, in this report, we evaluated GA in terms of multimodal imaging findings, differential diagnosis, and treatment of macular complications.

Evaluation of lacrimal drainage system in Pseudoexfoliation syndrome.

PURPOSE: To evaluate the prevalence of the obstruction of lacrimal drainage system (LDS) in patients with pseudoexfoliation (PXF) syndrome. MATERIALS AND METHODS: This cross-sectional study included 152 eyes of 76 consecutive patients with bilateral PXF syndrome and 170 eyes of 85 age and gender-matched controls. The LDS evaluation was performed based on dye disappearance test, slit-lamp examination, diagnostic probing, and irrigation test. The presence of punctal stenosis and canalicular obstruction were considered as the obstruction of proximal LDS; and complete or incomplete nasolacrimal duct obstruction was considered as obstruction of distal LDS. Demographic characteristics, ophthalmologic findings, and prevalence and site of obstruction of LDS were compared among the groups. RESULTS: The prevalence of obstruction of LDS was higher in the PXF syndrome group when compared to controls (21.1% vs 12.2%), but the difference was not statistically significant (p = 0.061). The obstruction of proximal LDS was found to be more frequent in the PXF syndrome (17.7%) group when compared to controls (10.0%), and this difference was statistically significant (p = 0.041). There was significantly more punctal stenosis in the PXF syndrome group when compared to controls (15.1% vs 7.6%, p = 0.033). The prevalence of canalicular stenosis and obstruction of distal LDS was similar in the PXF and the control groups (p = 0.596 and p = 0.741, respectively). CONCLUSION: The prevalence of punctal stenosis was statistically significantly higher in the PXF syndrome group when compared to the controls. This association is probably related to increased local ocular surface inflammation which is triggered by the accumulation of PXF material.