Atypical corneal clouding in mucopolysaccharidoses

Abstract

The etiology for corneal clouding from the birth is varied and includes conditions such as sclerocornea, birth trauma, corneal ulcer, Peters anomaly, and rare causes like mucopolysaccharidoses (MPS). The lysosomal storage disorders are associated with a varied ocular manifestation including bilateral corneal clouding which is often mild and stippled except in few cases like Hunter syndrome where cornea is often clear. We report a case of MPS Type I S (MPS 1) with near-normal visual acuity and bilateral dense corneal clouding with sparing of central 3 mm of cornea. The patient also had typical facial and skeletal abnormalities of lysosomal storage disorder. To our best knowledge, MPS 1 with marked corneal clouding with sparing of central cornea is very rare and has not been reported. This case report emphasizes on the atypical ocular presentation of MPS and the need for ophthalmological screening in the storage disorders.

Keywords: Corneal clouding; mucopolysaccharidoses; mucopolysaccharidoses Type 1; skeletal deformities; storage disorders.

Figure 1:

(a) Clinical photograph of the patient showing facial dysmorphism like frontal bossing, hypertelorism, corneal opacity, and broad nose, (b) X-ray of the patient knee joint showing the presence of bowed legs

Figure 2:

Photograph of the patient showing dense corneal clouding with central clear zone of cornea in both eyes