Ocular Manifestation of Compound Heterozygotic Mutation in Congenital Erythropoietic Porphyria

Sung Eun Kim; Hyung Keun Lee

doi:10.3341/jkos.2009.50.3.477

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Kim and Lee: Ocular Manifestation of Compound Heterozygotic Mutation in Congenital Erythropoietic Porphyria

Original Article

J Korean Ophthalmol Soc 2009;50(3):477-480.

Published online: 31 August 2009

DOI: https://doi.org/10.3341/jkos.2009.50.3.477

Ocular Manifestation of Compound Heterozygotic Mutation in Congenital Erythropoietic Porphyria

Sung Eun Kim, MD, Hyung Keun Lee, MD

The Institute of Vision Research, Department of Ophthalmology, College of Medicine, Yonsei University, Seoul, Korea

Address reprint requests to Hyung Keun Lee, MD, Department of Ophthalmology, Kangnam Severance Hospital, Yonsei University College of Medicine #146-92 Dogok-dong, Kangnam-gu, Seoul 135-720, Korea Tel: 82-2-2019-3440, Fax: 82-2-3463-1049, E-mail: shadik@yuhs.ac

Received 5 June 2008 Accepted 4 February 2009

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Purpose

Congenital erythropoietic porphyria (CEP) is a rare disorder inherited as an autosomal recessive trait, which is characterized by almost complete reduction of uroporphyrinogen III synthase (UROS) activity. The authors of the present study report a case of congenital erythropoietic porphyria with severe ocular involvement.

Case summary

A 27-year-old male patient diagnosed with congenital erythropoietic porphyria was referred to our clinic with a history of ocular pain, and foreign body sensation in both eyes. Visual acuity was light perception in both eyes. Severe scarring of eyelids, corneal leukoma with neovascularization, total limbal deficiency and scleromalacia were observed in both eyes. Identification of the uroporphyrinogen III synthase (UROS) gene mutation revealed the patient had a compound heterozygote mutation at p.Q249X (c.745C＞ T) and p.L237P (c.710T＞ C) in exon 10.

Conclusions

CEP is clinically characterized by severe cutaneous photosensitivity, hemolytic anemia and porphyriuria. In addition to these manifestations, the authors report a severe ocular involvement in a patient with CEP who had a compound heterozygote mutation at p.Q249X (c.745C＞ T) and p.L237P (c.710T＞ C) in exon 10.

Keywords: Congenital erythropoietic porphyria, Conjunctivalized cornea, Ectropion

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Figure 1.

Ocular manifestation of the patient (A) Corneal leukoma with neovascularization on the left eye. (B) The right eye showed phthisis bulbi. Scleromalacia and total limbal deficiency were also evident in both eyes.

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