Urbach-wiethe syndrome and the ophthalmologist: review of the literature and introduction of the first instance of bilateral uveitis

Abstract

Patients suffering from Urbach-Wiethe syndrome (UWS), also known as lipoid proteinosis or hyalinosis cutis et mucosae, may have an ophthalmologist involved in the diagnosis and management of their disease. Along with moniliform blepharosis as a pathognomonic feature of the disease, an ophthalmologist may encounter other manifestations of UWS in any part of the eye such as cornea; conjunctiva; sclera; trabecular meshwork; iris/pupil; lens and zonular fibers; retina; nasolacrimal duct. This paper provides a review on the pathogenesis and the diverse ocular manifestations seen in UWS patients. Uncommon complications are discussed in this paper (glaucoma; dry eye and epiphora; complications of lens, retina, cornea; iris/pupil and conjunctiva). Moreover, a 27-year-old male UWS patient is described with bilateral diffuse anterior stromal iris atrophy, diffuse keratic precipitates; posterior subcapsular cataract; 1 + vitreous cell in anterior vitreous examination. This case was thought to be the first instance of bilateral uveitis associated with UWS. Overall, ophthalmologists may encounter diverse ocular complications accompanying this syndrome. They should be familiar with well-established ophthalmologic manifestations leading them to cooperate with other specialists in diagnosis and management of the disease.

Figure 1

Moniliform blepharosis in (a) right and (b) left eye.

Figure 2

(a) Diffuse iris atrophy. (b) Diffuse keratic precipitates. (c) Posterior subcapsular cataract.

Figure 3

Fundus photographes of both eyes, one month after cataract surgery of the second eye. (a) Left eye. (b) Right eye.

Figure 4

Biopsy of vocal fold (H&E): (a) and (b) deposition of hyaline material (×20 and ×400, resp.). (c) “Onion skin” appearance around blood vessels (×100).