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Variability in the ocular phenotype in mucopolysaccharidosis.

Krishanthy Sornalingam1,2, Ahmed Javed1, Tariq Aslam1,2

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The British Journal of Ophthalmology
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Mucopolysaccharidoses (MPS) cause eye problems like corneal clouding and retinopathy. While corneal clouding is linked to biomarkers, genotype and treatment type did not clearly affect eye symptoms in MPS patients.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Rare Diseases

Background:

  • Mucopolysaccharidoses (MPS) are rare lysosomal storage disorders.
  • Ocular complications, including corneal clouding, retinopathy, and optic neuropathy, are frequent in MPS patients.
  • Limited data exists on the influence of genetic factors and systemic treatments on the ocular presentation of MPS.

Purpose of the Study:

  • To prospectively investigate ocular features in patients with Mucopolysaccharidoses type I (MPSI), IV (MPSIV), and VI (MPSVI).
  • To assess the impact of different therapeutic interventions on ocular manifestations.
  • To correlate ocular findings with genotypic and biomarker data.

Main Methods:

  • A prospective observational cohort study design was employed.
  • Detailed ocular examinations included visual acuity, corneal clouding assessment (Iris camera Corneal Opacification Measure, Pentacam densitometry), and retinal/optic nerve imaging (OCT, wide-field fundus photography).
  • Genotype, biomarker, and treatment data (type, duration) were collected for all participants.

Main Results:

  • The study included 21 patients with MPSI, 4 with MPSIV, and 3 with MPSVI.
  • Corneal clouding was more severe in MPSI compared to MPSIV and MPSVI.
  • Retinopathy was observed exclusively in MPSI patients, and corneal clouding showed an association with biomarkers across all studied MPS types, but not with genotype or treatment.

Conclusions:

  • The ocular phenotype in MPS is diverse, with corneal clouding prevalent across MPSI, MPSIV, and MPSVI, while retinopathy is specific to MPSI.
  • An association exists between corneal clouding and the efficacy of systemic treatment, as indicated by biomarker levels.