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Proteoglycans01:05

Proteoglycans

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Glycans, a class of complex heterogeneous molecules, can be covalently attached to proteins to form glycosylated proteins that regulate various physiological and pathological processes. Glycosylated proteins or glycoproteins comprise N-linked and O-linked oligosaccharides. O-glycosylation is the most common type of protein glycosylation. Here, glycans attach to the oxygen atom of the hydroxyl groups of Serine or Threonine residues. O-linked glycosylation occurs later in protein processing,...
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Retinopathy in Mucopolysaccharidoses.

Maha Noor1, Omar Mehana2, Guillermo de la Mata3

  • 1Ophthalmology Department, Lancashire Teaching Hospitals NHS Foundation Trust, United Kingdom; Manchester Royal Eye Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.

Ophthalmology
|November 15, 2024
PubMed
Summary
This summary is machine-generated.

Retinopathy can affect patients with mucopolysaccharidoses (MPS) as early as age two. Early diagnosis via ophthalmic imaging and electroretinography is crucial for managing this condition.

Keywords:
ElectroretinogramFundus autofluorescenceFundus photographyMucopolysaccharidosisOCTRetinopathy

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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.