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Abnormal iris pigmentation

MedGen UID:
Concept ID:
HPO: HP:0008034


Abnormal pigmentation of the iris. [from HPO]

Conditions with this feature

Aortic aneurysm, familial thoracic 4
MedGen UID:
Concept ID:
Disease or Syndrome
Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene.
Ermine phenotype
MedGen UID:
Concept ID:
Disease or Syndrome
A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.

Professional guidelines


Daniels AB, Chang EY, Chew EY, Gombos DS, Gorin MB, Shields CL, Wiley HE
Ophthalmology 2024 May;131(5):622-633. Epub 2023 Dec 12 doi: 10.1016/j.ophtha.2023.12.014. PMID: 38092079
Britten-Jones AC, Jin R, Gocuk SA, Cichello E, O'Hare F, Hickey DG, Edwards TL, Ayton LN
Genet Med 2022 Mar;24(3):521-534. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.10.013. PMID: 34906485
Verma IC, Paliwal P, Singh K
Indian J Pediatr 2018 Mar;85(3):228-236. Epub 2017 Oct 2 doi: 10.1007/s12098-017-2453-7. PMID: 28971364

Recent clinical studies


Niu Z, Mei L, Tang F, Li J, Wang X, Sun J, He C, Cheng H, Liu Y, Cai X, Song J, Feng Y, Jiang L
Eur Arch Otorhinolaryngol 2021 Aug;278(8):2807-2815. Epub 2020 Sep 17 doi: 10.1007/s00405-020-06361-5. PMID: 32940795

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