Retinopathy in Mucopolysaccharidoses.

Area of Science:

• Ophthalmology
• Genetics
• Rare Diseases

Background:

• Mucopolysaccharidoses (MPS) are a group of rare genetic disorders characterized by the body's inability to break down glycosaminoglycans.
• Ocular manifestations, particularly retinopathy, are common in MPS patients and can significantly impact vision.
• Understanding the patterns of retinopathy in MPS is essential for timely diagnosis and management.

Purpose of the Study:

• To investigate the onset, variation, and progression patterns of retinopathy in patients diagnosed with mucopolysaccharidoses (MPS).

Main Methods:

• A prospective, longitudinal, observational study was conducted involving patients with MPS recruited from ophthalmology clinics.
• Ophthalmic assessments included visual acuity, corneal clouding, intraocular pressure, fundoscopy, ultrawidefield (UWF) color fundus photography, fundus autofluorescence (FAF), OCT, and electroretinography (ERG).
• Retinopathy presence and patterns were determined by evaluating clinical examination, retinal imaging, and ERG findings.

Main Results:

• Retinopathy was confirmed in 32 out of 75 MPS patients (MPS I, II, IVA, VI), with onset detected between 2 and 53 years of age.
• Ultrawidefield (UWF) color fundus photography, fundus autofluorescence (FAF), and OCT were key in identifying retinopathy in 31 patients.
• Electroretinography (ERG) revealed abnormalities consistent with retinopathy in 21 patients, and 15 reported nyctalopia (night blindness).

Conclusions:

• Retinopathy can manifest in patients with mucopolysaccharidoses (MPS) from as early as two years of age.
• Ophthalmic imaging and electroretinography (ERG) are vital diagnostic tools for MPS-related retinopathy.
• Emerging therapies like gene therapy hold promise for preventing or stabilizing retinopathy, underscoring the importance of phenotypic data and natural history studies.