Ocular manifestation of storage diseases

Curr Opin Ophthalmol. 2008 Nov;19(6):507-11. doi: 10.1097/ICU.0b013e32831215c3.


Purpose of review: This is an attempt to provide a brief overview of ocular manifestation of storage diseases (lysosomal storage diseases).

Recent findings: Lysosomal storage disorder is a heterogeneous group of rare disorders characterized by abnormal accumulation of incompletely degraded substances in various tissues and organs. Patients with these kinds of inherited disorder often present with ocular manifestation along with various systemic features. Systemic manifestations including neurological impairment, skeletal deformities, intellectual and cardiac abnormalities, and gastrointestinal problems are quite common. Ocular complication may cause severe reduction in vision and can affect any part of the eye. Corneal opacification of varying severity is frequently seen. Patients can also present with cataract, vitreous degeneration, retinopathy, optic nerve swelling and atrophy, ocular hypertension, and glaucoma.

Summary: The majority of these patients have poor vision due to various ocular complications that are often very difficult to monitor and treat.

Publication types

  • Review

MeSH terms

  • Eye Diseases / etiology*
  • Humans
  • Lipid Metabolism, Inborn Errors / complications*
  • Lysosomal Storage Diseases / complications*