Publications by authors named "G G Rudolph"
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
- - A child's visual acuity is crucial for proper neurobehavioral development, and infantile corneal opacities can lead to a high risk of amblyopia.
- - This review identifies common causes of infantile corneal opacities, emphasizing the need to rule out metabolic, traumatic, and infectious origins before focusing on corneal dysgenesis, dystrophy, or degeneration.
- - Early detection and treatment of corneal opacities in children is essential to prevent amblyopia, and histopathological analyses of removed corneas can aid in diagnosing unexplained cases.
In 2017 the gene therapy medication voretigene neparvovec-rzyl was approved by the U.S. Food and Drug Administration (FDA) for retinal gene therapy of hereditary retinal dystrophies caused by mutations in the RPE65 gene.
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