Retinopathy in Mucopolysaccharidoses.
Retinopathy was confirmed in 32 of 75 mucopolysaccharidosis patients studied
Retinopathy in Mucopolysaccharidoses.
To determine the pattern(s) of onset, variation, and progression of retinopathy in patients with mucopolysaccharidoses (mucopolysaccharidoses).
Between November 2015 and March 2023, individuals with mucopolysaccharidoses were recruited from ophthalmology clinics at the Manchester Royal Eye Hospital, United Kingdom.
eye disease was found in a large share of these patients
Five participants were first diagnosed with retinopathy with clinical examination, and 31 participants were identified on ultrawidefield color fundus photography supported by fundus autofluorescence and OCT.
A total of 21 patients exhibited electroretinography abnormalities consistent with retinopathy.
The onset of retinopathy varied substantially, with initial detection between 2 and 53 years of age.
Patients with mucopolysaccharidoses as young as 2 years may develop retinopathy, diagnosed through fundus examination, ophthalmic imaging, or electroretinography.
Emerging treatments, including gene therapy, may prevent or stabilize retinopathy. Phenotypic data and natural history of mucopolysaccharidoses-related retinopathy are thus of paramount importance.
FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.