Publications by authors named "M F Gerhardt"
Ceroid lipofuscinosis type 2 (CLN2) is caused by biallelic pathogenic variants in the gene, encoding lysosomal tripeptidyl peptidase 1 (TPP1). The classical late-infantile phenotype has an age of onset between 2 and 4 years and is characterized by psychomotor regression, myoclonus, ataxia, blindness, and shortened life expectancy. Vision loss occurs due to retinal degeneration, usually when severe neurological symptoms are already evident.
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- Inherited retinal dystrophies (IRDs) are a significant cause of blindness or severe visual impairment in children, with varying symptoms and genetic associations.
- The study analyzed data from 309 pediatric patients to determine the clinical and genetic profiles of IRDs, finding distinct patterns in preschoolers versus school-aged children.
- Preschoolers exhibited symptoms like nystagmus and established genetic variants linked to isolated and syndromic forms of IRDs, while school-aged children largely showed declining visual acuity and a higher prevalence of cone-dominated diseases.
Article Synopsis
- * It uses an adapted CFIR questionnaire to analyze responses from 31 healthcare professionals, highlighting that while the interventions themselves are seen positively, resource shortages, poor policy integration, and lack of incentives are major obstacles.
- * Recommendations to overcome these barriers include designing patient-focused tools, creating user manuals, conducting workshops, and enhancing communication through interdisciplinary meetings, alongside integrating psychosocial care into public health policies to improve treatment standards.
Background: In optical coherence tomography (OCT) scans of patients with inherited retinal diseases (IRDs), the measurement of the thickness of the outer nuclear layer (ONL) has been well established as a surrogate marker for photoreceptor preservation. Current automatic segmentation tools fail in OCT segmentation in IRDs, and manual segmentation is time-consuming.
Methods And Material: Patients with IRD and an available OCT scan were screened for the present study.