U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Iris hypopigmentation

MedGen UID:
509721
Concept ID:
C0154920
Finding; Finding
Synonyms: Hypopigmentation of the iris; Light-colored eyes; Reduced iris pigmentation
SNOMED CT: Iris hypopigmentation (247032003); Albino iris (247032003)
 
HPO: HP:0007730

Definition

An abnormal reduction in the amount of pigmentation of the iris. [from HPO]

Conditions with this feature

Chédiak-Higashi syndrome
MedGen UID:
3347
Concept ID:
C0007965
Disease or Syndrome
Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism, immunodeficiency, and a mild bleeding tendency. Approximately 85% of affected individuals develop the accelerated phase, or hemophagocytic lymphohistiocytosis, a life-threatening, hyperinflammatory condition. All affected individuals including adolescents and adults with atypical CHS and children with classic CHS who have successfully undergone allogenic hematopoietic stem cell transplantation (HSCT) develop neurologic findings during early adulthood.
Anterior segment dysgenesis 4
MedGen UID:
330750
Concept ID:
C1842031
Disease or Syndrome
Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002). Patients with ASGD4 have been reported with iridogoniodysgenesis or Peters anomaly subtypes. Iridogoniodysgenesis, which is characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma, is the result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior segment of the eye (summary by Mears et al., 1996). Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea (Peters, 1906).
Koolen-de Vries syndrome
MedGen UID:
355853
Concept ID:
C1864871
Disease or Syndrome
Koolen-de Vries syndrome (KdVS) is characterized by developmental delay / intellectual disability, neonatal/childhood hypotonia, dysmorphisms, congenital malformations, and behavioral features. Psychomotor developmental delay is noted in all individuals from an early age. The majority of individuals with KdVS function in the mild-to-moderate range of intellectual disability. Other findings include speech and language delay (100%), epilepsy (~33%), congenital heart defects (25%-50%), renal and urologic anomalies (25%-50%), and cryptorchidism (71% of males). Behavior in most is described as friendly, amiable, and cooperative.
Waardenburg syndrome type 2E
MedGen UID:
398476
Concept ID:
C2700405
Disease or Syndrome
Waardenburg syndrome type 2 (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E (WS2E) may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A, 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580).

Professional guidelines

PubMed

Kessel L, Kjer B, Lei U, Duno M, Grønskov K
Ophthalmic Genet 2021 Jun;42(3):230-238. Epub 2021 Feb 22 doi: 10.1080/13816810.2021.1881979. PMID: 33612058
Hegde M, Lewis RA, Richards CS
Genet Test 2002 Spring;6(1):7-14. doi: 10.1089/109065702760093852. PMID: 12180081

Recent clinical studies

Etiology

Bjeloš M, Ćurić A, Bušić M, Rak B, Kuzmanović Elabjer B
Int J Mol Sci 2024 Jun 11;25(12) doi: 10.3390/ijms25126442. PMID: 38928147Free PMC Article
Shields CL, Nickerson SJ, Al-Dahmash S, Shields JA
JAMA Ophthalmol 2013 Sep;131(9):1167-73. doi: 10.1001/jamaophthalmol.2013.4190. PMID: 23868078
Karaman A
Dermatol Online J 2008 Nov 15;14(11):13. PMID: 19094851
Grønskov K, Ek J, Brondum-Nielsen K
Orphanet J Rare Dis 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. PMID: 17980020Free PMC Article

Diagnosis

Li L, Ma J, He XL, Zhou YT, Zhang Y, Chen QD, Zhang L, Ruan B, Zhang TS
Biosci Rep 2021 Jun 25;41(6) doi: 10.1042/BSR20193375. PMID: 33345266Free PMC Article
Fons C, Vasconcelos M, Vidal M, Puy R, Capdevila A, Sanchez L, Campistol J
J Child Neurol 2009 Jan;24(1):101-4. doi: 10.1177/0883073808321049. PMID: 19168824
Grønskov K, Ek J, Brondum-Nielsen K
Orphanet J Rare Dis 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. PMID: 17980020Free PMC Article
Libov AJ, Maino DM
J Am Optom Assoc 1994 May;65(5):355-9. PMID: 8071507
Schneider BB, Maino DM
J Am Optom Assoc 1993 Jul;64(7):502-6. PMID: 8376719

Prognosis

Wang F, Zhao S, Xie Y, Yang W, Mo Z
Ann Clin Lab Sci 2018 Mar;48(2):248-252. PMID: 29678855
Suzuki E, Izumi Y, Chiba Y, Horikawa R, Matsubara Y, Tanaka M, Ogata T, Fukami M, Naiki Y
Horm Res Paediatr 2015;84(3):212-6. Epub 2015 Jul 29 doi: 10.1159/000436965. PMID: 26228106

Clinical prediction guides

Bjeloš M, Ćurić A, Bušić M, Rak B, Kuzmanović Elabjer B
Int J Mol Sci 2024 Jun 11;25(12) doi: 10.3390/ijms25126442. PMID: 38928147Free PMC Article
Wang F, Zhao S, Xie Y, Yang W, Mo Z
Ann Clin Lab Sci 2018 Mar;48(2):248-252. PMID: 29678855
Suzuki E, Izumi Y, Chiba Y, Horikawa R, Matsubara Y, Tanaka M, Ogata T, Fukami M, Naiki Y
Horm Res Paediatr 2015;84(3):212-6. Epub 2015 Jul 29 doi: 10.1159/000436965. PMID: 26228106
Xiao X, Zhang Q
Am J Med Genet A 2009 Aug;149A(8):1786-8. doi: 10.1002/ajmg.a.32818. PMID: 19610097

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...