Identification of the RPGR Gene Pathogenic Variants in a Cohort of Polish Male Patients with Retinitis Pigmentosa Phenotype.

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. Of these, five variants were novel, and five disease-causing variants (71%) were identified within the ORF15 mutational hotspot of the RPGR gene. The median age of onset of the disease was 10 years (range 6-14 years), the median age during the examination was 30 years (range 20-47 years), and the median visual acuity was 0.4 (range 0.01-0.7). The majority of patients had middle constriction of the visual field and thinning of the central foveal thickness. Dizygotic twins bearing the same hemizygous mutation showed a different retinal phenotype in regard to the severity of the symptoms. This is the first RPGR mutation screening in Poland showing a prevalence of 18% of RPGR pathogenic mutations and likely pathogenic variants in the studied cohort of male patients with an RP phenotype.

Quadrantanopia as the only symptom of post-COVID stroke in the occipital pole: Case report.

RATIONALE: 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. DIAGNOSIS: The patient was diagnosed with quadrantanopia due to stroke confirmed with brain MRI, secondary to COVID-19 infection. INTERVENTION: Patient underwent ophthalmological examination and MRI. OUTCOMES: A thrombotic or ischemic risks in the chronic recovery from COVID-19 should be considered in patients with elevated D-dimers. LESSONS: An MRI should be considered as a long term follow up for post-COVID-19 patients reporting ophthalmic or neurologic complains.

Double-Needle Yamane Technique Using Flanged Haptics in Ocular Trauma-A Retrospective Survey of Visual Outcomes and Safety.

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. No intraoperative complications were noted. There was significant improvement in the visual acuity in both groups at the second postoperative visit. However, the visual acuity was significantly worse in the group treated with the Yamane technique combined with PPV. Silicone oil tamponade in PPV group was associated with worse visual acuity, whereas post lensectomy status was associated with poor visual function result in the anterior vitrectomy group. There was one case of slight IOL decentration and one retinal detachment during the postoperative follow-up period in the group with PPV. In this case series, the Yamane technique applied in traumatized eyes was found to be an efficacious and safe procedure. Combining the Yamane technique with PPV due to posterior segment ocular trauma was associated with worse functional results in the follow-up at three months. Further studies with longer follow-up evaluations are required to verify long-term complications.