Letter
Postgrad Med J: first published as 10.1136/postgradmedj-2020-137621 on 6 March 2020. Downloaded from http://pmj.bmj.com/ on May 15, 2020 at Uppsala Universitet BIBSAM Consortia.
Heterochromia iridis: More
than beautiful eyes
The article on focal cortical dysplasia and
heterochromia of the iris in the ‘Images in
Medicine’ section reported an association
between brain malformation and heter-
ochromia iridis.1 Although rare, this entity
has drawn our attention to the often triv-
ialised heterochromia iridis and its over-
looked underlying pathology.
Heterochromia iridis (HI) is defined as
variation in iris colour and structure. Aris-
totle called it heteroglaucos. Iris colour
is known to be derived in a Mendelian
manner and is determined by concentra-
tion 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 trypto-
phan) pathway.3 Blue-­coloured iris occurs
as a result of reflected light over scattered
melanin granules, whereas black-­coloured
iris is following reflected light over the
black pigment of choroid. In addition to
that, iris has lipochrome—yellowish patch
of fat pigment. Combination of pigments
gives rise to various colours. For instance,
yellow and black pigment gives rise to
green iris. The Louisville Twin Study
revealed alteration in eye shade noted in
10% to 20% of children up until 6 years
Figure 1  Heterochromia iridis with
asymmetric colour.
of age.4 Whereas in adults, on the other
hand, eye hue changes are seen in about
15% of white population.5
Eye colour is determined by four
elements: hereditary, sympathetic stim-
ulation of iris melanocytes, melanocytic
stimulating hormone and biochemical
factors of melanin metabolism.6 Heter-
ochomia attributed by congenital cause
has three types: complete, sectoral and
central. In complete heterochromia, one
iris is different from the other, whereas
in sectoral heterochromia, segment of
iris is of a different colour as compared
with the remaining iris. Spikes of various
colours were noted to radiate from the
pupil.7 Despite being mostly sporadic and
benign, myriad syndromes are associated
with this entity. These include congen-
ital Horner’s syndrome, Sturge-­ Weber
syndrome, Waardenburg syndrome and
Parry-­Roomberg syndrome. Waarden-
burg syndrome is an autosomal-­dominant
genetic condition that is evident at birth
characterised by pigmentation of hair,
skin, bilateral iris and congenital deafness
(figure 1).
Besides that, HI can occur following
ocular trauma, foreign body, melanocytic
infiltration and impaired sympathetic
tone.8 HI associated with large malfor-
mation of the cortical development has
also been reported.1 Iris colour can be
affected by ageing, siderosis, metastatic
carcinoma, juvenile xanthogranuloma,
acquired Horner syndrome and Fuchs
heterochromic iridocyclitis in addition
to medication-­ induced pigmentation,
such as by latanoprost, a prostaglandin
analogue.9 10
Heterochromia warrants investigation
as myriad conditions have been reported
to be associated with this entity. More-
over, thorough family history, notably
family pedigree, date and progression of
HI, history of ocular trauma as well as
head injury, is deemed necessary. Multidis-
ciplinary team evaluation should include
ophthalmology team as a rule along with
other related teams based on history and
physical examination. Evaluation by
ophthalmology team inevitably includes
slit-­
lamp examination and intraocular
pressure measurement. Patients suspected
with the syndrome requires audiological,
neurological and paediatric evaluation
along with geneticist assessment.
Postgrad Med J Month 2020 Vol 0 No 0
Jeyasakthy Saniasiaya ‍ ‍
Department of Otorhinolaryngology, Hospital Tuanku
Ja’afar Seremban, Seremban, Malaysia
Correspondence to Dr Jeyasakthy Saniasiaya,
Otorhinolaryngology, Hospital Tuanku Ja’afar Seremban,
Seremban 70300, Malaysia; ​shakthy_​18@​yahoo.​com
Acknowledgements  We would like to acknowledge
Dr Sarah Shafwan for the image taken.
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.
© Author(s) (or their employer(s)) 2020. No commercial
re-­use. See rights and permissions. Published by BMJ.
To cite Saniasiaya J. Postgrad Med J Epub ahead of
print: [please include Day Month Year]. doi:10.1136/
postgradmedj-2020-137621
Accepted 27 February 2020
Postgrad Med J 2020;0:1.
doi:10.1136/postgradmedj-2020-137621
Protected by copyright.
ORCID iD
Jeyasakthy Saniasiaya http://​orcid.​org/​0000-​0003-​
1974-​4379
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