Multiple Sulfatase Deficiency from an Ophthalmologist's Perspective-Case Report and Literature Review

Area of Science:

• Ophthalmology
• Genetics
• Rare Diseases

Background:

• Multiple sulfatase deficiency (MSD) is an ultra-rare autosomal recessive disorder caused by SUMF1 gene mutations.
• It presents with psychomotor retardation, neurodegeneration, ichthyosis, and mucopolysaccharidosis-like features.
• Ocular involvement, particularly tapetoretinal degeneration leading to early blindness, affects a significant portion of MSD patients.

Observation:

• A case study of a 5-year-old boy with genetically confirmed MSD (SUMF1 mutations) and a 4.5-year follow-up is presented.
• The patient experienced progressive vision loss from "tunnel view" to no light perception despite stable retinal findings on initial examination.
• Ocular coherence tomography (OCT) revealed severe disease in outer retinal layers (photoreceptors, ellipsoid zone) and inner retinal layers (indistinguishable ganglion cell and nerve fiber layers).

Findings:

• MSD is characterized by severe tapetoretinal degeneration, mimicking advanced Retinitis Pigmentosa.
• Ocular pathology in MSD primarily affects the retina, leading to profound vision impairment and blindness.
• OCT findings indicate widespread retinal damage, including photoreceptor and inner retinal layer dysfunction.

Implications:

• Characteristic fundus anomalies in MSD patients should prompt consideration of this diagnosis.
• Early genetic and pediatric diagnostics are crucial for managing MSD and its associated complications.
• Understanding the ocular manifestations of MSD aids in differential diagnosis and patient management.