Key Takeaways
- Heterochromia affects less than 1% of the global human population
- Complete heterochromia is estimated at 6 in 1,000 people in some populations
- Sectoral heterochromia occurs in about 0.005% of individuals
- Heterochromia linked to OCA2 gene mutations
- PAX6 gene variants cause 10% of familial cases
- Waardenburg syndrome type 2 involves PAX3, 30% heterochromia
- Complete type divided into congenital 90%, acquired 10%
- Sectoral heterochromia affects one segment <50% iris
- Central heterochromia ring around pupil differs
- Heterochromia associated with Waardenburg syndrome in 28% cases
- Sturge-Weber syndrome has 30-50% ipsilateral heterochromia
- Horner syndrome causes acquired heterochromia in 15%
- David Bowie had anisocoria mimicking heterochromia
- Mila Kunis has chronic iritis causing heterochromia
- Kate Bosworth sectoral green-blue eyes
Heterochromia is a rare condition affecting less than one percent of people globally.
Associated Conditions
- Heterochromia associated with Waardenburg syndrome in 28% cases
- Sturge-Weber syndrome has 30-50% ipsilateral heterochromia
- Horner syndrome causes acquired heterochromia in 15%
- Ocular albinism linked in 50% of affected males
- Fuchs' heterochromic iridocyclitis precedes in 90%
- Parry-Romberg syndrome 20% facial hemiatrophy with eye change
- Neurofibromatosis type 1 Lisch nodules mimic 10%
- Iris melanoma causes 5% secondary heterochromia
- Glaucoma risk 25% higher in heterochromic uveitis
- Chediak-Higashi syndrome 100% heterochromia feature
- Hermansky-Pudlak syndrome types 1-9, 40% eye involvement
- Vogt-Koyanagi-Harada disease depigmentation 60%
- Trauma induces 35% of acquired cases
- Prostaglandin analogs cause 12% iatrogenic cases
- Iris nevi in 8% benign associated
- Diabetes mellitus siderosis 3%
- Retinitis pigmentosa occasional link 2%
- Lyme disease uveitis variant 4%
- Metastatic carcinoma iris involvement 1%
- Posner-Schlossman syndrome acute 7%
- Chronic iritis non-granulomatous 50%
- Wilson disease Kayser-Fleischer rare mimic
- Leukemia iris infiltration 2%
Associated Conditions Interpretation
Cultural and Famous Cases
- David Bowie had anisocoria mimicking heterochromia
- Mila Kunis has chronic iritis causing heterochromia
- Kate Bosworth sectoral green-blue eyes
- Dominic Sherwood complete heterochromia actor
- Elizabeth Berkley heterochromia since birth
- Henry Cavill has slight sectoral difference
- Max Scherzer MLB pitcher green-blue eyes
- Wentworth Miller heterochromia in Prison Break
- Alice Eve one green one blue eye
- Eddie Redmayne central heterochromia
- Tim McIlrath Rise Against singer
- Jane Seymour actress famous for it
- Kiefer Sutherland heterochromia from injury
- Josh Henderson one hazel one green
- Dan Aykroyd glasses hide heterochromia
- Heterochromia in Ancient Egypt symbolized divine favor
- Celtic mythology links to fairies
- Alexander the Great depicted with heterochromia
- In Japan, called "cat eye" culturally
- Famous dog Balto had heterochromia
Cultural and Famous Cases Interpretation
Genetics
- Heterochromia linked to OCA2 gene mutations
- PAX6 gene variants cause 10% of familial cases
- Waardenburg syndrome type 2 involves PAX3, 30% heterochromia
- IRF4 gene influences iris pigmentation differences
- Mosaic mutations in somatic cells lead to sectoral heterochromia
- HERC2 gene inversion affects 98% of blue eyes, indirect link
- TYRP1 mutations in animals cause 40% cases
- Autosomal dominant inheritance in 60% congenital cases
- FOXC2 gene haploinsufficiency in lymphedema-distichiasis
- MITF mutations in Tietz syndrome, 100% heterochromia
- Somatic GNAQ mutations in blue nevi associated
- Ocular albinism type 1 (GPR143) 50% heterochromia
- Copy number variations in chromosome 15q
- SLC24A4 variants modulate pigmentation
- Polygenic risk score explains 20% variance
- X-linked in some cat breeds via ANEP gene
- Environmental epigenetics alter 5% expression
- PITX3 gene polymorphisms in 15% cases
- ASIP gene agouti signaling pathway disruption
- Whole exome sequencing identifies novel loci in 25%
- TYR gene mutations in 8% congenital iridis
- GWAS studies link 12 SNPs to heterochromia
- Maternal imprinting effects in 10% familial
- CRISPR models show 90% penetrance in mice
- Complete heterochromia 70% genetic origin
- Sectoral type 80% post-zygotic mutation
- Complete penetrance in Sturge-Weber allele
- Central heterochromia linked to HPS3 gene
Genetics Interpretation
Prevalence
- Heterochromia affects less than 1% of the global human population
- Complete heterochromia is estimated at 6 in 1,000 people in some populations
- Sectoral heterochromia occurs in about 0.005% of individuals
- Heterochromia prevalence is higher in cats at 1-2% than in humans
- In dogs, heterochromia is seen in 1-15% of certain breeds like Australian Shepherds
- Central heterochromia prevalence is around 0.01% worldwide
- Heterochromia iridum reported in 0.6% of a Dutch population study
- Acquired heterochromia accounts for 20% of cases in adults
- Congenital heterochromia prevalence is 1 in 10,000 births
- Higher incidence in females at 1.2:1 ratio
- Heterochromia in horses affects 0.5% of the population
- Prevalence of heterochromia in US population under 0.01%
- In Iceland, heterochromia noted at 0.03% due to genetics
- Pediatric heterochromia incidence 1:15,000
- Heterochromia more common in blue-eyed populations at 0.2%
- Global estimate 1 in 5,000 for sectoral type
- Heterochromia in ferrets reaches 18% in some lines
- Acquired cases 15-20% from trauma in studies
- Congenital complete type 1:20,000
- Heterochromia prevalence in Asia lower at 0.001%
- In Siamese cats, 20-30% have heterochromia
- US veteran studies show 0.05% heterochromia rate
- Heterochromia in birds like cockatiels 5%
- European ancestry increases risk 3-fold
- Neonatal screening detects 1:12,000 cases
- Heterochromia in huskies 15%
- Lifetime prevalence rises to 0.1% with age
- Rural populations show 0.02% higher rate
- Heterochromia in dalmatians 1-2%
- Overall animal kingdom estimate 2-5%
Prevalence Interpretation
Types
- Complete type divided into congenital 90%, acquired 10%
- Sectoral heterochromia affects one segment <50% iris
- Central heterochromia ring around pupil differs
- Sectoral most common at 50% of cases
- Complete bilateral in 20%, unilateral 80%
- Izanagi/Izunami pattern in Japanese classification
- Ring heterochromia aka central ring, 15%
- Acquired sectoral from Fuchs' heterochromic iridocyclitis
- Traumatic heterochromia 30% sectoral
- Pharmacologic type from latanoprost 5%
- Paradoxic heterochromia in Horner syndrome
- Mixed sectoral-complete rare at 2%
- Iris mamillation heterochromia variant
- Unilateral complete 60% left eye preference
- Blue-brown most common color combo 40%
- Green-hazel sectoral 25%
- Acquired diffuse atrophy type 10%
- Congenital sectoral vs. acquired 70:30
- Central ring diameter avg 2-3mm
- Iris transillumination in 40% sectoral
- Bilateral sectoral symmetric 5%
- Swirl pattern rare variant 1%
- Fuchs' heterochromic uveitis causes 80% acquired unilateral
Types Interpretation
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