Mucopolysaccharidosis type I associated corneal disease: A clinicopathologic study.
Sign Up to like & getrecommendations! Published in 2021 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2021.05.014
Abstract: PURPOSE To report the anterior segment clinical features as well as histopathologic and histochemical characteristics of corneal findings associated with the largest reported cohort of patients with Hurler Syndrome and other variants of mucopolysaccharidosis (MPS)… read more here.
Keywords: mucopolysaccharidosis; stained sections; disease; study ... See more keywords
Changes in Corneal Clouding Over Time in Patients With Mucopolysaccharidosis.
Sign Up to like & getrecommendations! Published in 2023 at "Cornea"
DOI: 10.1097/ico.0000000000003214
Abstract: PURPOSE Mucopolysaccharidoses (MPSs) are a rare group of lysosomal storage disorders characterized by the accumulation of incompletely degraded glycosaminoglycans (GAGs) in multiple organ systems, including the eye. Visual loss occurs in MPS predominantly due to… read more here.
Keywords: corneal clouding; time; mps mps; changes corneal ... See more keywords
Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006169
Abstract: We provide the first study of two siblings with a novel autosomal recessive LRP1-related syndrome identified by rapid genome sequencing and overlapping multiple genetic models. The patients presented with respiratory distress, congenital heart defects, hypotonia,… read more here.
Keywords: recessive lrp1; lrp1; corneal clouding; lrp1 related ... See more keywords
Mucopolysaccharidosis: A broad review
Sign Up to like & getrecommendations! Published in 2022 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_425_22
Abstract: Mucopolysaccharidosis (MPS) is a group of genetic disorders with seven types and 13 subgroups which are characterized by an inherent deficiency of the enzymes responsible for the degradation of glycosaminoglycans (GAGs). Defective breakdown of GAG… read more here.
Keywords: corneal clouding; mucopolysaccharidosis; mucopolysaccharidosis broad; life ... See more keywords