Ocular manifestations in patient with congenital erythropoietic porphyria

• Published in: Indian journal of ophthalmology Vol. 67; no. 10; pp. 1765 - 1768
• Main Authors: Isanta-Otal, C, López-Valverde, G, Orobia, A, Pablo, L
• Format: Journal Article
• Language: English
• Published: India Wolters Kluwer India Pvt. Ltd 01-10-2019; Medknow Publications and Media Pvt. Ltd; Medknow Publications & Media Pvt. Ltd; Wolters Kluwer - Medknow; Wolters Kluwer Medknow Publications
• Subjects: Autologous serum; Care and treatment; Case Reports; Case studies; Complications and side effects; Congenital diseases; congenital erythropoietic porphyria; Conjunctiva - pathology; Conjunctival Diseases - diagnosis; Conjunctival Diseases - etiology; Cornea; Cornea - pathology; Corneal Diseases - diagnosis; Corneal Diseases - etiology; cyclosporine; Cyclosporins; Development and progression; Erythropoietic porphyria; Eye manifestations; Eyelid; Female; Genetic disorders; Humans; Lubricants & lubrication; Meibomian Gland Dysfunction - diagnosis; Meibomian Gland Dysfunction - etiology; Meibomian Glands - pathology; Metabolic disorders; Metabolites; Middle Aged; Patients; Porphyria; Porphyria, Erythropoietic - complications; Porphyria, Erythropoietic - diagnosis; Retinoids; Risk factors; Slit Lamp Microscopy; Steroid hormones; Topical drugs; Vitamin A; cyclosporine; congenital erythropoietic porphyria; Autologous serum; cornea; retinoids
• ISSN: 0301-4738; 1998-3689
• DOI: 10.4103/ijo.IJO_1776_18

We present the case of a 52-year-old woman referred to our service because of extreme ocular surface dryness. The patient showed corneal, conjunctival, and eyelid manifestations of ocular congenital erythropoietic porphyria (CEP). We started treatment with autologous serum, topical steroids, and cyclosporine twice a day, topical retinoids, and intense corneal lubrication. The patient referred significant improvement of ocular bothering and less discomfort since treatment was initiated. We describe the management of the herewith presented case of ocular CEP.