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Letter
Need for measurement of porphyrins in teardrops in patients with congenital erythropoietic porphyria
  1. N Takamura1,
  2. K Kurihara2,
  3. S Yamashita3,
  4. M Kondo4
  1. 1Department of Preventive Medicine and Health Promotion and Department of International Health and Radiation Research, Atomic Bomb Disease Institute, Nagasaki University School of Medicine, Nagasaki, Japan
  2. 2Department of Ophthalmology, Tokorozawa Central Hospital, Tokorozawa, Japan
  3. 3Department of International Health and Radiation Research, Atomic Bomb Disease Institute, Nagasaki University School of Medicine, Nagasaki, Japan
  4. 4Department of Nutrition and Biochemistry, National Institute of Public Health, Tokyo, Japan
  1. Correspondence to: Noboru Takamura, MD, PhD, Department of Preventive Medicine and Health Promotion, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan; takamura{at}net.nagasaki-u.ac.jp

https://doi.org/10.1136/bjo.86.10.1188

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    Congenital erythropoietic porphyria (CEP: MIM#263700) is an extremely rare disorder inherited as an autosomal recessive trait. The cause of this disease is the deficient activity of uroporphyrinogen III synthase (UROS: EC 4.2.1.75).1 Since a cloning of UROS gene (UROS: Genebank NM000375), efforts have been made to clarify underlying mutations that cause CEP.1 To date, more than 20 mutations of UROS have been described.2 Identification of UROS mutations at the molecular level is important for genetic counselling and prenatal diagnosis of affected families.

    Clinically, 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 …

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