Publications by authors named "H Talsma"
Purpose: The purpose of this study was to describe the association among nystagmus characteristics, foveal hypoplasia, and visual acuity in patients with albinism.
Methods: We studied nystagmus recordings of 50 patients with albinism. The nystagmus waveform was decomposed into two types: dominantly pendular and dominantly jerk.
Article Synopsis
- The study aimed to investigate the progression of retinal dystrophies linked to the CRB1 gene and identify potential clinical endpoints for future trials.
- It included 22 patients assessed through various ophthalmic tests at the start and after two years, revealing diagnoses primarily of retinitis pigmentosa.
- While overall visual acuity and field measures showed stability over two years, there was a significant decrease in retinal sensitivity, suggesting microperimetry could be a crucial endpoint for assessing treatment effects in future studies.
The CEP83 protein is an essential part in the first steps of ciliogenesis, causing a ciliopathy if deficient. As a core component of the distal appendages of the centriole, CEP83 is located in almost all cell types and is involved in the primary cilium assembly. Previously reported CEP83 deficient patients all presented with nephronophthisis and kidney dysfunction.
View Article and Find Full Text PDFArticle Synopsis
- This study focused on understanding the retinal structure and function in patients with CRB1-associated retinal dystrophies (RD) to identify potential clinical endpoints for treatment evaluation.
- A total of 22 patients ranging from ages 6 to 74 were assessed using various clinical methods, demonstrating a range of visual acuity and different types of retinal dystrophies, primarily retinitis pigmentosa.
- The findings revealed significant variability in symptom onset and central visual functions among patients, suggesting that continued longitudinal studies are necessary to determine the best measures for clinical trials.
Purpose: To help differentiate CLN3 (Batten) disease, a devastating childhood metabolic disorder, from the similarly presenting early-onset Stargardt disease (STGD1). Early clinical identification of children with CLN3 disease is essential for adequate referral, counselling and rehabilitation.
Methods: Medical chart review of 38 children who were referred to a specialized ophthalmological centre because of rapid vision loss.