Case Reports

Reduced corneal biomechanical strength in a patient with mucolipidosis III

Case Report Details

First Author: C.Rodriguez Villalobos SWITZERLAND

Co Author(s):    E. Torres-Netto   F. Gilardoni   N. Hafezi   F. Hafezi           

Abstract Details

Purpose:

The mucolipidoses include a group of metabolic storage diseases. Mucolipidosis III (pseudo-Hurler polydystrophy) is a rare autosomal recessive metabolic disorder, which leads to accumulation of complex carbohydrates (mucopolysaccharides) and fatty substances (mucolipids) in various tissues. Only two reports exist in the literature reporting on ocular changes in mucolipidosis III. These changes include retinal and optic nerve abnormalities, visual field defects and corneal haze in the presence of normal visual acuity. We describe a young patient with mucolipidosis III who shows posterior corneal haze, reduced corneal thickness and a pathological corneal biomechanical response in the absence of other ocular findings.

Setting:

ELZA-Institute, Dietikon, Switzerland.

Report of Case:

A 39-year-old patient with confirmed mucolipidosis III was referred to our clinic by his general practitioner for a reduction in visual acuity in the left eye. CDVA was 20/30 in the right eye and 20/40 in the left eye. Intraocular pressure was 10 mmHg in the right eye and 13 mmHg in the left eye. Slit lamp examination revealed subtle haze in the deep central stroma of both eyes. Scheimpflug analysis showed a thin cornea with a minimal thickness von 469 μm in the right and 462 μm in the left cornea with a normal distribution from the central to the peripheral cornea. The anterior surface showed subtle irregular astigmatism. The posterior corneal surface was symmetric on both eyes. The combined analysis of topography/tomography and corneal biomechanics using Scheimpflug imaging and high-speed dynamic Scheimpflug imaging revealed pathological findings (CBI of 0.95, BAD of 2.18, TBI 0.52 on the right eye and CBI of 0.94, BAD of 2.44, TBI 0.45 on the left eye). Visual field examination was normal. Fundus examination at the slit lamp revealed normal findings for the macula and the optic nerve heads and OCT of the macula showed regular foveal and macular structure.

Conclusion/Take Home Message:

Various ocular changes have been associated with mucolipidosis III. This is the first report to show a reduction in corneal biomechanical strength and changes in corneal thickness and tomography in mucolipidosis III. We therefore recommend regular follow-ups in patients suffering for mucolipidosis III.

Financial Disclosure:

None