Definition

Absence or underdevelopment of the iris. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAplasia/Hypoplasia of the iris

Phenotypic abnormality
- Abnormality of the eye
  - Abnormal eye morphology
    - Aplasia/Hypoplasia affecting the eye
      - Aplasia/Hypoplasia affecting the anterior segment of the eye
        Aplasia/Hypoplasia of the iris
        Congenital aniridia
        11p partial monosomy syndrome
        Isolated aniridia
        Aniridia 1
        Aniridia 2
        Aniridia 3
        Syndromic aniridia
        Aniridia - intellectual disability syndrome
        Aniridia-absent patella syndrome
        Aniridia-ptosis-intellectual disability-familial obesity syndrome
        Aniridia-renal agenesis-psychomotor retardation syndrome
        Gillespie syndrome
        Hypoplasia of the iris
        Hypoplasia of the iris dilator muscle
        Hypoplastic iris stroma
        Rieger anomaly
        Axenfeld-Rieger syndrome type 1
        Axenfeld-Rieger syndrome type 2
        Axenfeld-Rieger syndrome type 3

Recent clinical studies

Diagnosis

11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.

Wawrocka A, Sikora A, Kuszel L, Krawczynski MR
J Appl Genet 2013 Aug;54(3):345-51. Epub 2013 Jun 13 doi: 10.1007/s13353-013-0154-0. PMID: 23761016 Free PMC Article

See all (1)

Synonyms:	Absent/small iris; Absent/underdeveloped iris

HPO:	HP:0008053

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Aplasia/Hypoplasia of the iris

Definition

Term Hierarchy

Recent clinical studies

Diagnosis

Supplemental Content

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Genetic Testing Registry

Clinical resources

Consumer resources

Reviews

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