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.

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.

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.

Objectives: The purpose was to quantitatively examine brain structures using 7 Tesla MRI in the presence of visual loss caused by retinitis pigmentosa (RP) related to retinitis pigmentosa GTPase regulator (RPGR) gene pathogenic variants. Methods: Twelve male patients with RP (mean visual acuity 0.4) related to confirmed RPGR pathogenic variants and fifteen healthy volunteers were examined with 7 Tesla MRI of the brain. Measures of the lateral geniculate nucleus (LGN) volume were performed manually by three independent investigators (radiologists) using ITK-SNAP (Insight Segmentation and Registration Toolkit) software. Other brain structures were evaluated using the open-source automated software package FreeSurfer. Prior to the 7 Tesla MRI, patients underwent an ophthalmic examination and a 1.5 Tesla MRI. Results: The mean LGN volume (right—100 mm³, left—96 mm³) and left lingual gyrus volume (6162 mm³) were significantly lower in RPGR patients in comparison to the control group (129 mm³, 125 mm³, and 7310 mm³, respectively), whilst some brain regions related to other sensory information such as the left isthmus cingulate (3690 mm³) and entorhinal cortex (right—1564 mm³, left 1734 mm³) were significantly or almost significantly higher in the RPGR group than in the control group (2682 mm³, 960 mm³, and 1030 mm³, respectively). Moreover, compared to the control group, the RPGR group’s thalamus-to-LGN ratio was substantially higher. Conclusions: The use of the 7 Tesla MRI revealed numerous structural abnormalities of the visual pathway in patients with RPGR-related RP. The reorganization of the structures of the brain demonstrated in patients with RPGR-related RP reveals a certain degree of plasticity in response to visual loss. These findings may help improve diagnostic and therapeutic strategies for RP patients and contribute to the development of precision medicine.

Retinitis pigmentosa (RP) is a varied collection of inherited disorders marked by numerous genes, mutations, and clinical manifestations. Progress in the treatment hinges on identifying causative genes and mutations, involving gene discovery and mutation screening for potential gene therapy. Significant advances have been made in detecting RP genes and mutations, with 30–80% detection rates using techniques like next-generation sequencing (NGS), revealing several novel RP genes and clarifying many unresolved cases. However, discrepancies between molecular findings and clinical symptoms often require genetic reevaluation. This review provides a concise overview of the current strategies and challenges in gene discovery and mutation detection in RP. It suggests that these considerations may also be relevant to other inherited retinal diseases. This review examines the RPGR gene’s pivotal role in X-linked RP (XLRP) and associated retinal dystrophies, focusing on its isoforms’ impact on ciliary function and protein trafficking. We discuss the genetic and clinical implications of RPGR mutations, particularly novel pathogenic variants, and their genotype-phenotype correlations. Ultimately, this synthesis aims to enhance understanding of RPGR’s role in retinal dystrophies, informing future research and potential treatments. Keywords: next-generation sequencing inherited retinal diseases genetic screening RPGR retinitis pigmentosa genotype-phenotype correlation RPGR-related retinal dystrophies