J Korean Ophthalmol Soc.  2009 Mar;50(3):477-480. 10.3341/jkos.2009.50.3.477.

Ocular Manifestation of Compound Heterozygotic Mutation in Congenital Erythropoietic Porphyria

• Kim SE
• Lee HK

• KMID: 2111262
• DOI: http://doi.org/10.3341/jkos.2009.50.3.477

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.

Keyword

Congenital erythropoietic porphyria; Conjunctivalized cornea; Ectropion

MeSH Terms

Adult
Anemia, Hemolytic
Cicatrix
Corneal Opacity
Ectropion
Exons
Eye
Eyelids
Foreign Bodies
Heterozygote
Humans
Light
Male
Porphyria, Erythropoietic
Sensation
Uroporphyrinogen III Synthetase
Visual Acuity
Uroporphyrinogen III Synthetase

Figure

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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.

Reference

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