Publications by authors named "Alexandra Mouallem-Beziere"
Purpose: We intend to describe an uncommon presentation of X-linked juvenile retinoschisis (XLRS) in a 17-year-old boy showing a macular demarcation line in the right eye and an inferior peripheral bullous retinoschisis in both right and left eye, at his first ophthalmologic examination.
Methods: The patient underwent a complete ophthalmologic examination including best-corrected visual acuity assessment, anterior segment and dilated fundus examination, ultra-wide-field retinography, spectral-domain optical coherence tomography, fundus autofluorescence, fluorescein angiography, electroretinography, visual field test, and genetic molecular testing.
Results: We report a rare case of genetically confirmed XLRS, presenting as a unilateral mildly-pigmented macular demarcation line (advanced sequel of unilateral spontaneous retinal reattachment of a previous retinal detachment or bullous retinoschisis) without foveoschisis in the fellow eye.
Purpose: To report a case of choroidal neovascularization (CNV) secondary to laser injury imaged by optical coherence tomography angiography (OCTA) and treated by intravitreal anti-vascular endothelial growth factor (VEGF).
Observations: A 14-year-old boy presented with vision loss and central scotoma in the right eye (RE) in the last month, after having stared at the beam of a laser pointer. At presentation, his best-corrected visual acuity (BCVA) in the RE was 20/40 and spectral-domain OCT (SD-OCT) showed an interruption of ellipsoid zone and the presence of an hyperrelfective lesion in subfoveal region.
Congenital cone-rod synaptic disorder (CRSD), also known as incomplete congenital stationary night blindness (iCSNB), is a non-progressive inherited retinal disease (IRD) characterized by night blindness, photophobia, and nystagmus, and distinctive electroretinographic features. Here, we report bi-allelic RIMS2 variants in seven CRSD-affected individuals from four unrelated families. Apart from CRSD, neurodevelopmental disease was observed in all affected individuals, and abnormal glucose homeostasis was observed in the eldest affected individual.
View Article and Find Full Text PDFPurpose: To report a case of retinal astrocytic hamartoma imaged by optical coherence tomography angiography (OCTA), followed for 2 years.
Methods: Observational case report.
Results: A 25-year-old woman was referred for an incidental retinal lesion in the left eye (LE).
Purpose: To evaluate the sensitivity and specificity of ultrawide-field fundus photography (UWF-FP) for the detection and classification of sickle cell retinopathy (SCR) by ophthalmologists with varying degrees of expertise in retinal disease.
Methods: Patients presenting with sickle cell disease (SCD) in the Créteil University Eye Clinic, having undergone UWF-FP and ultrawide-field fluorescein angiography (UWF-FA) on the same day, were retrospectively included. Eyes with previous retinal photocoagulation were excluded.
Purpose: We hypothesized that severe forms of neovascular age-related macular degeneration (AMD) such as large pigment epithelial detachments poorly responding to anti-vascular endothelial growth factor therapy might present a distinct genotype compared with overall series of neovascular AMD.
Methods: This is a multicenter genetic association study. Sixty-eight patients presenting pigment epithelial detachments resistant to ranibizumab (issued from ARI2 study, register number NCT02157077 on clinicaltrials.