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The article on focal cortical dysplasia and heterochromia of the iris in the ‘Images in Medicine’ section reported an association between brain malformation and heterochromia iridis.1 Although rare, this entity has drawn our attention to the often trivialised heterochromia iridis and its overlooked underlying pathology.
Heterochromia iridis (HI) is defined as variation in iris colour and structure. Aristotle called it heteroglaucos. Iris colour is known to be derived in a Mendelian manner and is determined by concentration of melanin.2 Iris may be hyperchromic or hypochromic which occurs as a result of a defect in the gene determining melanin dispersal in the 8-HTP (hydroxyl tryptophan) pathway.3 Blue-coloured …
Contributors I am the sole contributor.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Parental/guardian consent obtained.
Provenance and peer review Not commissioned; internally peer reviewed.
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