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.

Lipoid proteinosis: A rare entity

“…Various ocular manifestations such as dry eyes, open angle glaucoma, drusen in the macula, retinitis pigmentosa, uveitis and subluxation of the lens has been reported along with lipoid proteinosis. [ 7 ] However, our patient had no abnormality in his eyes.…”

“…Skin lesions generally appear as nodules on the face, lips (at earlier stages), and later become hyperkeratotic. [ 7 ]…”

Familial Moniliform Blepharosis: Clinical, Histopathological and Genetic Correlation

“…Most of the reported findings are confined to dermatological, otorhinolaryngological, neurological and ocular systems. [1][2][3][4][5][6][7][8][9][10] The differential diagnosis of LP includes erythropoietic protoporphyria, colloid milium, lichen myxedematosus, or papular mucinosus, eruptive xanthomas, and cutaneous amyloidosis, but the constellation of systemic findings often leads to the correct clinical diagnosis. 4 Beaded papules on the eyelid margins (moniliform blepharosis) are a characteristic finding observed in about 75% of patients.…”

“…4 Beaded papules on the eyelid margins (moniliform blepharosis) are a characteristic finding observed in about 75% of patients. 5 These appear like a string of yellowish and waxy beads and are a strong diagnostic clue. Additional infrequent features include macular drusen, retinitis pigmentosa, nasolacrimal duct obstruction, and corneal opacities.…”

“…Additional infrequent features include macular drusen, retinitis pigmentosa, nasolacrimal duct obstruction, and corneal opacities. 5,6 The pathogenesis of various ocular manifestations reported in the literature is attributed to mass effect and inflammatory response to hyaline deposition.…”