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Eye involvement in congenital erythropoietic porphyria

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Session Details

Session Title: Presented Poster Session: Posterior Segment

Venue: Poster Village: Pod 3

First Author: : B.Pina PORTUGAL

Co Author(s): :    O. Berens   A. Candeias           

Abstract Details

Purpose:

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessively inherited disorder characterized by mutilating cutaneous photosensitivity and abnormal porphyrin heme synthesis in bone marrow. There are few cases of ocular complications reported in the literature. Eyelid changes with cicatricial ectropion and lagophthalmos, corneal scarring and scleritis have been reported. The aim is to describe the ocular manifestations in a case of congenital erythropoietic porphyria.

Setting:

The case was reported at the Ophthalmology Department of Hospital do Espírito Santo, Évora.

Methods:

We describe a case of a 44-year-old caucasian woman diagnosed with congenital erythropoietic porphyria since birth. She had best corrected visual acuities of 20/40 in the right eye and 20/50 in the left eye (Snellen Chart). General skin changes and joint deformity were present. Observation revealed inferior eyelid cicatricial ectropion, symblepharon, inferior corneal pannus, corneal scarring and significant inferior dellen.

Results:

Corneal tomography revealed an inferior decrease of corneal thickness bilaterally and associated irregular astigmatism. Posterior segment optical coherence tomography was normal. Preservative-free artificial tears, bed night occlusion and sunglasses were prescribed.

Conclusions:

Although skin changes are the main manifestation of this disease, ocular involvement is generally present. Ophthalmology Consultation of these patients is necessary to try to avoid cumulative cicatricial changes of the ocular surface and a decrease in visual acuity.

Financial Disclosure:

NONE

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