Ocular Manifestation of Compound Heterozygotic Mutation in Congenital Erythropoietic Porphyria
Journal of the Korean Ophthalmological Society
;
: 477-480, 2009.
Artigo
em Coreano
| WPRIM
| ID: wpr-71877
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. CASESUMMARY:
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Sensação
/
Uroporfirinogênio III Sintetase
/
Acuidade Visual
/
Éxons
/
Cicatriz
/
Porfiria Eritropoética
/
Opacidade da Córnea
/
Ectrópio
/
Olho
/
Pálpebras
Limite:
Adulto
/
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Journal of the Korean Ophthalmological Society
Ano de publicação:
2009
Tipo de documento:
Artigo
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