The goal of the study was to explore the spectrum of pathogenic variants in the RPGR gene in a group of male Polish patients with a retinitis pigmentosa (RP) phenotype. A total of 45 male index patients, including twins, being members of 44 families, were screened for pathogenic variants in the RPGR gene via the direct sequencing of PCR-amplified genomic DNA and underwent a comprehensive ophthalmological examination in one center located in Poland. A total of two pathogenic and five likely pathogenic variants in eight patients (18%) were detected in the studied cohort.
View Article and Find Full Text PDFRationale: This is a case report describing delayed complications of COVID-19 pneumonia, which evolved into the vascular-ischemic complications leading to quadrantanopia and MRI findings consistent with recent ischemic event in the occipital pole of the brain.
Patient Concerns: We report a case of a 46-year-old woman with quadrantanopia due to stroke confirmed with brain MRI, secondary to COVID-19 infection with chronically elevated D-dimers and treated with anticoagulation/antithrombotic modalities. Quadrantanopia was the only symptom recognized by the patient of a stroke localized in the occipital pole of the brain.
To evaluate visual outcomes and safety of the double-needle technique using flanged haptics (Yamane technique) in patients with aphakia caused by ocular trauma at a trauma referral center. Retrospective: Consecutive interventional case series of 30 patients who underwent the Yamane technique due to posttraumatic aphakia. The double-needle technique using flanged haptics was combined with anterior vitrectomy (group A) in 14 patients, and with pars plana vitrectomy (PPV) (group B) due to retinal detachment, nucleus dislocation into the vitreous cavity, or intraocular lens (IOL) displacement in 16 patients.
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