[Ophthalmic manifestations of lipoid proteinosis]

Lipoid proteinosis (LP), also known as hyalinosis (or lipoidosis) cutis et mucosae or Urbach-Wiethe disease, is a rare autosomal recessive disorder. It is associated with deposits of protein-lipid complexes in various tissues including the skin and mucous membranes. Ophthalmologic manifestations are frequent and can affect visual prognosis.

This 28-year-old patient presented vesiculobullous lesions of the face that developed into varioloid scars associated with hoarseness. Ophthalmologic examination revealed unilateral lesions including hyaline deposits on the palpebral margins, iris, and trabecular zone, complicated by uveitis, cataract, and glaucoma, which caused the functional loss of the left eye. Histological examination of a cutaneous biopsy confirmed the diagnosis.

Involvement of the eyelids is characteristic, and moniliform blepharosis is pathognomonic and frequent. This case featured a rare intraocular form (uveitis). Deposits may be found on the conjunctiva, cornea, trabecula and Bruch membrane. Conjunctival or cutaneous biopsy confirms the diagnosis. Available treatment is quite limited.