Publications by authors named "C S Boon"
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ∼30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.
View Article and Find Full Text PDFGyrate atrophy of the choroid and retina (GACR, OMIM #258870) is a rare inherited metabolic disorder characterized by progressive chorioretinal degeneration and hyperornithinemia. Current therapeutic modalities potentially slow disease progression but are not successful in preventing blindness. To allow for trial development, increased knowledge of the clinical phenotype and current therapeutic outcomes is required.
View Article and Find Full Text PDFSyndromic Retinitis Pigmentosa.
Prog Retin Eye Res
December 2024
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome. This manuscript discusses the broad spectrum of syndromes associated with RP, pathogenic mechanisms, clinical manifestations, differential diagnoses, clinical management approaches, and future perspectives.
View Article and Find Full Text PDFArticle Synopsis
- The study aimed to examine how the full-field stimulus test (FST) relates to patients' self-reported visual function in those with retinitis pigmentosa (RP) by utilizing the Michigan Retinal Degeneration Questionnaire (MRDQ).
- 31 RP patients participated, measuring their retinal sensitivity using FST while completing the MRDQ to derive disability scores across various visual function areas; significant correlations were found between FST results and specific MRDQ domains.
- Results indicated strong links between FST measures, particularly with blue stimuli, and self-reported functional impairments, suggesting FST could serve as a valuable endpoint in RP clinical trials.
Purpose: Understanding test-retest variability (TRV) of mesopic microperimetry is critical for defining meaningful treatment effects in retinitis pigmentosa (RP) trials. This study uniquely evaluates intra- and intervisit TRV and coefficients of repeatability (CoRs) for microperimetry parameters in RP patients with varying best-corrected visual acuity (BCVA) levels.
Methods: In this single-centre prospective cohort study, RP patients were assessed on two visits, 14.