[Mucopolysaccharidosis type I, Hurler-Scheie phenotype with ocular involvement. Clinical and ultrastructural study].

Article

[Mucopolysaccharidosis type I, Hurler-Scheie phenotype with ocular involvement. Clinical and ultrastructural study].

Journal francais d'ophtalmologie - 1 Jan 1994

Girard B, Hoang-Xuan T, D'Hermies F, Savoldelli M, Bennouna M, Poenaru L, Maroteaux P, Pouliquen Y

Abstract excerpt

The authors report the case of a 37 year-old male who presented with type I Hurler-Scheie (H-S) mucopolysaccharidosis revealed by ocular complications including bilateral corneal opacification and glaucoma. These complications are identical to those seen in Scheie's mucopolysaccharidosis. The pat...

Topics

Conjunctiva
Cornea
Corneal Opacity
Glaucoma
Humans
Male
Microscopy, Electron
Middle Aged
Mucopolysaccharidosis I
Phenotype

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.