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Introduction: X-linked juvenile retinoschisis (XLRS) is a rare genetic disease causing retinal splitting. The aim of this work is to describe the optical coherence tomography angiography (OCTA) features in two brothers affected by an hemizygous c.589C>T (p.Arg197Cys) pathogenic variant in exon 6 of the RS1 gene., Case Decription: Each patient underwent a complete ophthalmological examination, including measurement of best corrected visual acuity, slit-lamp biomicroscopy, fundus color photographs, fundus autofluorescence and infrared imaging, fluorescein angiography, spectral-domain optical coherence tomography (SD-OCT) and optical coherence tomography angiography (OCTA). En Face SD-OCT and OCTA revealed the presence of two different pattern of cystic lesions, fusiform and oval, disposed on a petaloid or irregular manner in the perifoveolar area. A widening of the foveal avascular zone with interruption of the vascular arcades was clearly evident. Furthermore, a capillary drop-out was observed in the superficial plexus of the central retina, other than capillary ectasia in the deep capillary plexus. Straight gray lines were visible among the cysts., Conclusions: OCTA data herein described allow a detailed morphological evaluation of XLRS other than a quantitative assessment of retinal capillary flow in this disease. The retinal alterations that we have reported may be helpful to better understand this rare condition with OCTA being a sensitive technique to monitor the evolution of the disease and the response to potential future therapeutic approaches aimed to restore vision.

Background: The purpose of this study was to evaluate the association between a novel psychometric 12-item questionnaire (U-qest) and other validated questionnaires to assess quality of life and work impairment in patients with non-infectious uveitis., Methods: Data were collected at baseline and 3 months postbaseline using U-qest and two other validated questionnaires: The National Eye Institute 25-Item Visual Function Questionnaire (VFQ-25) and the 12-Item Short-Form Health Survey (SF-12)., Results: A total of 136 patients (52.2% female) aged 47.9 ± 14.8 years (mean ± SD) were enrolled in 14 uveitis referral centres. U-qest correlated moderately with VFQ-25 and SF-12 at baseline and at 3 months. Both U-qest and VFQ-25 scores improved as disease improved; however, U-qest also detected improvement in patients for whom VFQ-25 scores did not improve. Disease activity was shown to significantly affect activity impairment. Patients and physicians expressed positive perceptions regarding the use and benefit of this instrument. U-qest showed very good reliability in terms of internal consistency (Cronbach's alpha = 0.91)., Conclusions: U-qest can be considered a useful tool to assess the burden of uveitis on quality of life.

Purpose: To describe a case of a 46-year-old woman with an asymptomatic history of unilateral multiple serous detachments of the retinal pigment epithelium (PED) in the right eye, treated with photodynamic therapy (PDT) with verteporfin for recent onset of subfoveal choroidal neovascularization (CNV) with chorioretinal anastomoses (CRA)., Results: Fluorescein and indocyanine green (ICG) angiography, performed with a Heidelberg scanning laser ophthalmoscope (SLO), demonstrated a predominantly classic foveal choroidal neovascular membrane associated with a PED and 1 one retinal and 2 two venous chorioretinal anastomoses. The left fundus was normal. PDT therapy was performed according to standard techniques. Three PDT treatments were performed at an interval of 3 months. Three months after the second PDT, visual acuity dropped to 20/200, with an en-largement of the neovascular network. One month after the third treatment, visual acuity deteriorated further and the CRA appeared enlarged, associated with a dense fibrotic re-action in the centere of the lesion., Conclusions: This clinical observation demonstrates that idiopathic serous detachments of the retinal pigment epithelium may represent predisposing changes to CNV development, and in the case CNV is associated with CRA, PDT may be unsuccessful. (Eur J Ophthalmol 2004; 14: 568-71).