Publications by authors named "M J Van Schooneveld"
Syndromic 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 PDFPurpose: Gene-based therapies for inherited retinal dystrophies (IRDs) are upcoming. Treatment before substantial vision loss will optimize outcomes. It is crucial to identify common phenotypes and causative genes in children.
View Article and Find Full Text PDFPurpose: To describe phenotypic, genotypic, and histopathological features of inherited retinal dystrophies associated with the CRX gene (CRX-RDs).
Design: Retrospective multicenter cohort study including histopathology.
Subjects: Thirty-nine patients from 31 families with pathogenic variants in the CRX gene.
Article Synopsis
- A 20-year-old patient lost his vision over a few weeks and had some other health issues.
- Genetic testing showed a rare gene change linked to other illnesses, but not to vision loss before.
- This case highlights the need for more genetic testing to understand vision problems that might look like Leber's hereditary optic neuropathy.
Purpose: To date, there is no standard treatment regimen for carbonic anhydrase inhibitors (CAIs) in X-linked retinoschisis (XLRS) patients. This retrospective study aims to evaluate the efficacy of CAIs on visual acuity and cystoid fluid collections (CFC) in XRLS patients in Dutch and Belgian tertiary referral centers.
Design: Retrospective cohort study.