OCULAR INVOLVEMENT IN CONGENITAL ERYTHROPOETIC PORPHYRIA (GÜNTHER`S DISEASE)

97th DOG Annual Meeting 1999

P82
OCULAR INVOLVEMENT IN CONGENITAL ERYTHROPOETIC PORPHYRIA (GÜNTHER`S DISEASE)

J. Hillenkamp¹, T. Reinhard¹, A. Kersten¹, C. Fritsch²

Background: Congenital erythropoetic porphyria (CEP) is a rare disorder of the heme synthesis with autosomal recessive inheritance caused by a defect of uroporphyrinogen III synthase. Since 1874 approximately 130 cases have been described worldwide. Excessive amounts of porphyrin accumulate in all tissues and lead to an ulceration with subsequent scarring of light-exposed areas of the skin. Mutilations of fingers, ears, nose and eyelids occur. Ocular involvement in CEP-patients has been described in the literature.

Patients: We present the only 4 CEP-patients living in Germany. All patients exhibited marked scarring of the eyelids, which had led to the development of lagophthalmos in 2 patients. All patients showed conjunctival scarring of the light-exposed areas of the globe which was more pronounced in case of concomitant lagophthalmos. We found scleral tissue defects in the interpalpebral fissures of one patient. Corneal affections (scars, vascularisation, hyperkeratotic plaques) limiting visual acuity were observed only in patients with incomplete closure of the lids. Supportive topical measures prevented further deterioration of ocular complications in all patients.

Conclusion: Phototoxic alterations of the eyelids, the conjunctiva and the sclera represent the underlying pathological mechanism leading to ocular complications in CEP. Scarring of the eyelids may lead to lagophthalmos with severe keratopathy. Since there is no causal therapy, supportive topical measures are the only possible treatment. Surgical treatment of the eyelids or of the globe should be avoided whenever possible.

Eye Hospital¹ and Dept. of Dermatology², Heinrich-Heine-University Düsseldorf Moorenstr. 5, D-40225 Düsseldorf, Germany

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