Dr. Jayshri Ekhar, E13969, Dr. Piyush Ashok Madan
Introduction : There are many different causes for corneal clouding/opacification which include both local ophthalmic causes as well as systemic causes. Mucopolysaccharidosis is a rare cause. So we present a case of Mucopolysaccharidosis Type IV, who presented with bilateral corneal clouding and other systemic features of this storage disorder.
Case Report : 5 years old female child spontaneous, painless, gradually progressive diminution of vision in both eyes since 5 to 6 months.Elder brother was developmentally normal.On exam, Ophthalmic examination revealed bilateral pseudo-proptosis.BCVA in RE was PL+ PR defective, cornea cloudy, stroma showed diffuse haze, pupil semidilated & sluggishly reacting to light, fundus showed temporal disc pallor s/o Optic atrophy. In LE- BCVA was PL+PR accurate, cornea cloudy and pupil reacting to light, fundus: CD ratio not comentable, disk margins blurred s/o disc oedema. blood investigation & systemic exam s/o suggestive of MPS type IV.
Conclusion : MPS is a rare multisystem disorder, ofte