Clinical Reviews
Authors:
aPediatra. Doctora en Medicina. CS de Burjassot (Valencia). Unidad de Neonatología, Hospital Universitario La Fe. Valencia. España.
Correspondence: C Casaní. Email: camarcar@alumni.uv.es
Reference of this article.:
Casaní Martínez C. Porfiria y daltonismo. Rev Pediatr Aten Primaria. 2004;6:415-419..
Published in Internet: 30/09/2004
Abstract:
Porphyries make a group of hereditary diseases caused by a partial defect in one of the seven enzymes of hem synthesis that generates a characteristic standard of accumulation and excretion of the correspondent precursor. Porphyries prevalence is 1/30000 in general population. Normal colour vision is called trichromasia because it is able to appreciate colour mixtures made with the three basic colours. 8% of men and 1% of women suffer from colour vision defects. A family in which both pathologies coincide is presented: the father suffers from a porphyria cutanea tarda, the youngest brother has a colour vision defect and the eldest brother both pathologies.Keywords: Porphyria. Porphyria cutanea tarda. Colour vision defect. Colour blindness.
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