Ocular manifestations in patient with congenital erythropoietic porphyria

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 cyc...

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Bibliographic Details
Published in:Indian journal of ophthalmology 2019-10, Vol.67 (10), p.1765-1768
Main Authors: Isanta-Otal, C, López-Valverde, G, Orobia, A, Pablo, L
Format: Article
Language:English
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
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Description
Summary: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.
ISSN:0301-4738
1998-3689
DOI:10.4103/ijo.IJO_1776_18