Trusted Resources: Education
Scientific literature and patient education texts
Macular Changes in a Mucopolysaccharidosis Type I Patient With Earlier Systemic Therapies
source: Case Reports in Ophthalmological Medicine
year: 2021
authors: Magalhães A,Cunha AM,Vilares-Morgado R,Leão-Teles E,Rodrigues E,Falcão M,Carneiro Â,Breda J,Falcão-Reis F
summary/abstract:To describe retinal findings in a patient with mucopolysaccharidosis type I (MPS I) that underwent an early treatment with hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). . We describe a case of a 12-year-old female with a biochemical and genetic diagnosis of MPS I. She underwent HSCT and ERT on the first year of life. The visual acuity was 5/10 in both eyes and she had bilateral grade 2 corneal haze. Spectral domain optical coherence tomography (SD-OCT) revealed thickening of the external limiting membrane (ELM) at the fovea. In the parafoveal and perifoveal regions, SD-OCT displayed a loss of the interdigitation, ellipsoid, and myoid zones and of the ELM accompanied by progressive thinning of the outer nuclear layer. Fundus infrared imaging revealed a hyperreflective ring centred on the fovea and hyporeflective areas in temporal parafoveal regions in both eyes. OCT imaging revealed two hyperreflective rings on the outer retinal level.
organization: Department of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, Portugal.DOI: 10.1155/2021/8866837
read more
Related Content
-
Extraordinary Experiences ProgramProgram provides grants of up to $1000 t...
-
Deborah Marsden, MDDeborah Marsden is an Attending Physicia...
-
Walla Al-Hertani, MD, MS, FRCPC, FCCMG, FACMGDr. Walla Al-Hertani is a Medical Bioche...
-
Issues of COVID-19-Related Distance Learning for Children With Neuronopathic MucopolysaccharidosesThe COVID-19 pandemic has impacted the e...
-
Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagno...Mucopolysaccharidoses (MPSs) are rare, h...
-
Real-World Data Assessment of Safety of Home-Based and Hospital/Outpatient-Based laronidase Enzyme Replacement Thera...Enzyme replacement therapy (ERT) is avai...
-
The First Mucopolysaccharidosis Type VII in a Taiwanese Girl: A Case Report and Review of the LiteratureThe present study included the first cas...