Shaden H. Yassin

Purpose: To characterize retinal vessel whitening (RVW) in retinitis pigmentosa (RP). Methods: Single-center cross-sectional study. Review of clinical notes of clinically confirmed patients with RP was performed followed by grading ultra-widefield imaging. Data collected included best-corrected visual acuity, presence or absence and location of RVW and were correlated with disease. Results: In total, 120 RP patients' charts were reviewed. Of these, 116 patients (232 eyes) were included in the final analysis with a mean age of 43.2 (39.8–46.6) and a 1:1 male to female ratio. Retinal vessel whitening was seen in either eye of 44 (38%) subjects, most frequently in the inferotemporal quadrant (P < 0.001). Total retinal thickness within the Early Treatment Diabetic Retinopathy Study area was significantly less in eyes with RVW (P < 0.001), a mean difference of 151.7 µm. Both the inner and outer retina were thinner in the RVW group (P < 0.001). There was also a significant association (P < 0.04) between the number of quadrants of the retina affected by RVW and the reduction in retinal thickness. Conclusion: Retinal vessel whitening is a common finding in RP, suggesting that it should be considered as a phenotypic feature of RP. Retinal vessel whitening is also associated with structural changes to the central macula indicating its potential use as a marker of retinal disease severity.

Mutations in the SCAPER gene have previously been reported to be a rare cause of syndromic and non-syndromic autosomal recessive retinitis pigmentosa (RP). We report a case of syndromic RP caused b...

Background: Retinitis pigmentosa (RP) represents a group of progressive, genetically heterogenous blinding diseases. Recently, relationships between measures of retinal function and structure are needed to help identify outcome measures or biomarkers for clinical trials. The ability to align retinal multimodal images, taken on different platforms, will allow better understanding of this relationship. We investigate the efficacy of artificial intelligence (AI) in overlaying different multimodal retinal images in RP patients.Methods: We overlayed infrared images from microperimetry on near‐infra‐red images from scanning laser ophthalmoscope and spectral domain optical coherence tomography in RP patients using manual alignment and AI. The AI adopted a two‐step framework and was trained on a separate dataset. Manual alignment was performed using in‐house software that allowed labelling of six key points located at vessel bifurcations. Manual overlay was considered successful if the distance between same key points on the overlayed images was ≤1/2°.Results: Fifty‐seven eyes of 32 patients were included in the analysis. AI was significantly more accurate and successful in aligning images compared to manual alignment as confirmed by linear mixed‐effects modelling (p < 0.001).A receiver operating characteristic analysis, used to compute the area under the curve of the AI (0.991) and manual (0.835) Dice coefficients in relation to their respective ‘truth’ values, found AI significantly more accurate in the overlay (p < 0.001).Conclusion: AI was significantly more accurate than manual alignment in overlaying multimodal retinal imaging in RP patients and showed the potential to use AI algorithms for future multimodal clinical and research applications.

Pre‐mRNA splicing factors are crucial in regulating transcript diversity, by removing introns from eukaryotic transcripts, an essential step in gene expression. Splicing of pre‐mRNA is catalyzed by spliceosomes. CWC27 is a cyclophilin associated with spliceosome, in which genetic defects of its components have been linked to spliceosomopathies with clinical phenotypes including skeletal developmental defects, retinitis pigmentosa (RP), short stature, skeletal anomalies, and neurological disorders. We report two siblings (male and female) of Mexican descent with a novel homozygous frameshift variant in CWC27 and aim to highlight the cardinal features among the previously described 12 cases as well as expand the currently recognized phenotypic spectrum. Both siblings presented with a range of ocular and extraocular manifestations including novel features such as solitary kidney and tarsal coalition in the male sibling, together with gait abnormalities, and Hashimoto's thyroiditis in the female sibling. Finally, we highlight ectodermal involvement including sparse scalp hair, eyebrows and lashes, pigmentary differences, nail dysplasia, and dental anomalies as a core phenotype associated with the CWC27 spliceosomopathy.