Analysis of iris surface features in populations of diverse ancestry

There are many textural elements that can be found in the human eye, including Fuchs’ crypts, Wolfflin nodules, pigment spots, contraction furrows and conjunctival melanosis. Although iris surface features have been well-studied in populations of European ancestry, the worldwide distribution of these traits is poorly understood. In this paper, we develop a new method of characterizing iris features from photographs of the iris. We then apply this method to a diverse sample of East Asian, European and South Asian ancestry. All five iris features showed significant differences in frequency between the three populations, indicating that iris features are largely population dependent. Although none of the features were correlated with each other in the East and South Asian groups, Fuchs’ crypts were significantly correlated with contraction furrows and pigment spots and contraction furrows were significantly associated with pigment spots in the European group. The genetic marker SEMA3A rs10235789 was significantly associated with Fuchs’ crypt grade in the European, East Asian and South Asian samples and a borderline association between TRAF3IP1 rs3739070 and contraction furrow grade was found in the European sample. The study of iris surface features in diverse populations may provide valuable information of forensic, biomedical and ophthalmological interest.

[1]  I. Zalaudek,et al.  New insights into oculodermal nevogenesis and proposal for a new iris nevus classification , 2014, British Journal of Ophthalmology.

[2]  T. Wong,et al.  Relationship between iris surface features and angle width in Asian eyes. , 2014, Investigative ophthalmology & visual science.

[3]  T. Wong,et al.  Assessment of iris surface features and their relationship with iris thickness in Asian eyes. , 2014, Ophthalmology.

[4]  M. He,et al.  Differences in Iris Thickness Among African Americans, Caucasian Americans, Hispanic Americans, Chinese Americans, and Filipino-Americans , 2013, Journal of glaucoma.

[5]  A. McRae,et al.  GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development. , 2011, American journal of human genetics.

[6]  M. Shriver,et al.  Iris texture traits show associations with iris color and genomic ancestry , 2011, American journal of human biology : the official journal of the Human Biology Council.

[7]  D. Mackey,et al.  Classification of iris colour: review and refinement of a classification schema , 2011, Clinical & experimental ophthalmology.

[8]  Manfred Kayser,et al.  IrisPlex: a sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information. , 2011, Forensic science international. Genetics.

[9]  Nicholas G. Martin,et al.  Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci , 2010, PLoS genetics.

[10]  Mats Larsson,et al.  Genetics of human iris colour and patterns , 2009, Pigment cell & melanoma research.

[11]  Dana N. Peles,et al.  Human iridal stroma melanosomes of varying pheomelanin contents possess a common eumelanic outer surface. , 2009, The journal of physical chemistry. B.

[12]  B. Damato,et al.  Conjunctival melanoma and melanosis: a reappraisal of terminology, classification and staging , 2008, Clinical & experimental ophthalmology.

[13]  Nicholas G Martin,et al.  A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. , 2008, American journal of human genetics.

[14]  Hans Eiberg,et al.  Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression , 2008, Human Genetics.

[15]  Tieniu Tan,et al.  Global Texture Analysis of Iris Images for Ethnic Classification , 2006, ICB.

[16]  A. Viera,et al.  Understanding interobserver agreement: the kappa statistic. , 2005, Family medicine.

[17]  Nancy L Pedersen,et al.  Genetic correlations among texture characteristics in the human iris. , 2004, Molecular vision.

[18]  J. Harbour,et al.  Association between posterior uveal melanoma and iris freckles, iris naevi, and choroidal naevi , 2003, The British journal of ophthalmology.

[19]  Y. S. Yu,et al.  Characteristic ocular findings in Asian children with Down syndrome , 2002, Eye.

[20]  Michael F. Land,et al.  The Human Eye: Structure and Function , 1999, Nature Medicine.

[21]  I H Wallow,et al.  Melanocytes and iris color. Light microscopic findings. , 1996, Archives of ophthalmology.

[22]  I H Wallow,et al.  Melanocytes and iris color. Electron microscopic findings. , 1996, Archives of ophthalmology.

[23]  P. Hartge,et al.  Sunlight and risk of uveal melanoma. , 1994, Journal of the National Cancer Institute.

[24]  E. Holly,et al.  Uveal melanoma in relation to ultraviolet light exposure and host factors. , 1990, Cancer research.

[25]  R. D. Williams BRUSHFIELD SPOTS AND WOLFFLIN NODULES IN THE IRIS: AN APPRAISAL IN HANDICAPPED CHILDREN , 1981 .

[26]  A. Eriksson,et al.  INFLUENCE OF AGE ON THE POSITION AND SIZE OF THE IRIS FRILL AND THE PUPIL , 1965, Acta ophthalmologica.

[27]  E. Purtscher ON THE DEVELOPMENT AND MORPHOLOGY OF IRIS CRYPTS * , 1965 .

[28]  E. Skeller,et al.  EYE SYMPTOMS IN MONGOLISM , 1951, Acta ophthalmologica.

[29]  A. B. Reese Pigment Freckles of the Iris (Benign Melanomas): Their Significance in Relation to Malignant Melanoma of the Uvea. , 1944, Transactions of the American Ophthalmological Society.

[30]  I. Rennie,et al.  Don’t it make my blue eyes brown: heterochromia and other abnormalities of the iris , 2012, Eye.

[31]  W. Green,et al.  Iris melanocyte numbers in Asian, African American, and Caucasian irides. , 2003, Transactions of the American Ophthalmological Society.

[32]  M. Jeanmougin SOLEIL ET PEAU , 1992 .

[33]  R. Eagle,et al.  Iris pigmentation and pigmented lesions: an ultrastructural study. , 1988, Transactions of the American Ophthalmological Society.

[34]  Kenneth H. Neidner Electron microscopic findings , 1988 .

[35]  R. D. BROOKE WILLIAMS Brushfield spots and Wolfflin nodules in the iris: an appraisal in handicapped children. , 1981, Developmental Medicine & Child Neurology.

[36]  S. Biga [OCULAR CHANGES IN MONGOLISM]. , 1964, Srpski Arhiv za Celokupno Lekarstvo.

[37]  D. Donaldson The Significance of Spotting of the Iris in Mongoloids: Brushfield's Spots , 1961 .