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Letter to the Editor
Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria
  1. K KURIHARA
  1. Imaizumi Eye Hospital, Koriyama, Japan
  2. Department of International Health and Radiation Research, Atomic Bomb Disease Institute, Nagasaki University School of Medicine, Nagasaki, Japan
  3. Imaizumi Eye Hospital, Koriyama, Japan
  4. Department of International Health and Radiation Research, Atomic Bomb Disease Institute, Nagasaki University School of Medicine, Nagasaki, Japan
  5. Department of Nutrition and Biochemistry, National Institute of Public Health, Tokyo, Japan
  1. N TAKAMURA
  1. Imaizumi Eye Hospital, Koriyama, Japan
  2. Department of International Health and Radiation Research, Atomic Bomb Disease Institute, Nagasaki University School of Medicine, Nagasaki, Japan
  3. Imaizumi Eye Hospital, Koriyama, Japan
  4. Department of International Health and Radiation Research, Atomic Bomb Disease Institute, Nagasaki University School of Medicine, Nagasaki, Japan
  5. Department of Nutrition and Biochemistry, National Institute of Public Health, Tokyo, Japan
  1. S IMAIZUMI
  1. Imaizumi Eye Hospital, Koriyama, Japan
  2. Department of International Health and Radiation Research, Atomic Bomb Disease Institute, Nagasaki University School of Medicine, Nagasaki, Japan
  3. Imaizumi Eye Hospital, Koriyama, Japan
  4. Department of International Health and Radiation Research, Atomic Bomb Disease Institute, Nagasaki University School of Medicine, Nagasaki, Japan
  5. Department of Nutrition and Biochemistry, National Institute of Public Health, Tokyo, Japan
  1. S YAMASHITA
  1. Imaizumi Eye Hospital, Koriyama, Japan
  2. Department of International Health and Radiation Research, Atomic Bomb Disease Institute, Nagasaki University School of Medicine, Nagasaki, Japan
  3. Imaizumi Eye Hospital, Koriyama, Japan
  4. Department of International Health and Radiation Research, Atomic Bomb Disease Institute, Nagasaki University School of Medicine, Nagasaki, Japan
  5. Department of Nutrition and Biochemistry, National Institute of Public Health, Tokyo, Japan
  1. M KONDO
  1. Imaizumi Eye Hospital, Koriyama, Japan
  2. Department of International Health and Radiation Research, Atomic Bomb Disease Institute, Nagasaki University School of Medicine, Nagasaki, Japan
  3. Imaizumi Eye Hospital, Koriyama, Japan
  4. Department of International Health and Radiation Research, Atomic Bomb Disease Institute, Nagasaki University School of Medicine, Nagasaki, Japan
  5. Department of Nutrition and Biochemistry, National Institute of Public Health, Tokyo, Japan
  1. Accepted for publication 26 April 2001

https://doi.org/10.1136/bjo.85.10.1260f

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    Editor,—Congenital erythropoietic porphyria (CEP: MIM No 263700) is an extremely rare disorder inherited as an autosomal recessive trait, which is characterised by an 80–98% reduction in the activity of uroporphyrinogen III synthase (UROS: EC 4.2.1.75).1Clinically, CEP is characterised by severe cutaneous photosensitivity, chronic haemolysis, and massive porphyrinuria resulting from the accumulation in the bone marrow, peripheral blood, and other organs of large amounts of the non-physiological and pathogenic porphyrin isomers, uroporphyrin I and coproporphyrin I.2 Red urine may be observed from infancy, and the teeth become stained red. Haemolytic anaemia, an additional complication, may be helped by splenectomy. Besides such manifestations, we reported a scleral change in the patient with CEP,3 who had a remarkable increase of porphyrins in tear drops. Our case …

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