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Abnormal iris vasculature

MedGen UID:
477594
Concept ID:
C3275963
Finding
Synonym: Abnormality of iris blood vessels
 
HPO: HP:0007905

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal iris vasculature

Conditions with this feature

Glaucoma 1, open angle, A
MedGen UID:
333974
Concept ID:
C1842028
Disease or Syndrome
Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term "early-onset glaucoma" may be used when the disorder appears before the age of 40.\n\nIn most people with glaucoma, the damage to the optic nerves is caused by increased pressure within the eyes (intraocular pressure). Intraocular pressure depends on a balance between fluid entering and leaving the eyes.\n\nUsually glaucoma develops in older adults, in whom the risk of developing the disorder may be affected by a variety of medical conditions including high blood pressure (hypertension) and diabetes mellitus, as well as family history. The risk of early-onset glaucoma depends mainly on heredity.\n\nStructural abnormalities that impede fluid drainage in the eye increase ocular pressure. These abnormalities may be present at birth and usually become apparent during the first year of life. Such structural abnormalities may be part of a genetic disorder that affects many body systems, called a syndrome. If glaucoma appears before the age of 3 without other associated abnormalities, it is called primary congenital glaucoma.\n\nOther individuals experience early onset of primary open-angle glaucoma, the most common adult form of glaucoma. If primary open-angle glaucoma develops during childhood or early adulthood, it is called juvenile open-angle glaucoma.
Anterior segment dysgenesis 3
MedGen UID:
355748
Concept ID:
C1866560
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). Some patients with ASGD3 have been reported with the following subtypes: iridogoniodysgenesis, Peters anomaly, Axenfeld anomaly, and Rieger anomaly. 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). In Axenfeld anomaly, strands of iris tissue attach to the Schwalbe line; in Rieger anomaly, in addition to the attachment of iris tissue to the Schwalbe line, there is clinically evident iris stromal atrophy with hole or pseudo-hole formation and corectopia (summary by Smith and Traboulsi, 2012).

Professional guidelines

PubMed

Varrone E, Lenhart P, Rao P, Weil N
J AAPOS 2022 Aug;26(4):207-210. Epub 2022 Jun 11 doi: 10.1016/j.jaapos.2022.04.003. PMID: 35697318
Ababneh OH, Yousef YA, Gharaibeh AM, Abu Ameerh MA, Abu-Yaghi NE, Al Bdour MD
Retina 2013 Apr;33(4):748-55. doi: 10.1097/IAE.0b013e3182721153. PMID: 23296048

Recent clinical studies

Etiology

Yeh TC, Cheng HC, Li HY, Chi SC, Yang HY, Yu JY, Niu DM, Wang AG
Eye (Lond) 2023 Aug;37(11):2265-2271. Epub 2022 Nov 28 doi: 10.1038/s41433-022-02328-4. PMID: 36437422Free PMC Article
Saffren B, Price JM, Zhang QE, Hamershock RA, Sharpe J, Levin AV
J AAPOS 2021 Apr;25(2):97.e1-97.e5. Epub 2021 Apr 24 doi: 10.1016/j.jaapos.2020.11.017. PMID: 33901671
Ebrahimiadib N, Maleki A, Fadakar K, Manhapra A, Ghassemi F, Foster CS
Surv Ophthalmol 2021 Jul-Aug;66(4):653-667. Epub 2021 Jan 5 doi: 10.1016/j.survophthal.2020.12.006. PMID: 33412171
Mizener JB, Podhajsky P, Hayreh SS
Ophthalmology 1997 May;104(5):859-64. doi: 10.1016/s0161-6420(97)30221-8. PMID: 9160035
Raitta C, Vannas A
Arch Ophthalmol 1977 Apr;95(4):608-12. doi: 10.1001/archopht.1977.04450040074010. PMID: 557968

Diagnosis

Yeh TC, Cheng HC, Li HY, Chi SC, Yang HY, Yu JY, Niu DM, Wang AG
Eye (Lond) 2023 Aug;37(11):2265-2271. Epub 2022 Nov 28 doi: 10.1038/s41433-022-02328-4. PMID: 36437422Free PMC Article
Ebrahimiadib N, Maleki A, Fadakar K, Manhapra A, Ghassemi F, Foster CS
Surv Ophthalmol 2021 Jul-Aug;66(4):653-667. Epub 2021 Jan 5 doi: 10.1016/j.survophthal.2020.12.006. PMID: 33412171
Rothova A, Ooijman F, Kerkhoff F, Van Der Lelij A, Lokhorst HM
Ophthalmology 2001 Feb;108(2):386-99. doi: 10.1016/s0161-6420(00)00499-1. PMID: 11158819
Mizener JB, Podhajsky P, Hayreh SS
Ophthalmology 1997 May;104(5):859-64. doi: 10.1016/s0161-6420(97)30221-8. PMID: 9160035
Raitta C, Vannas A
Arch Ophthalmol 1977 Apr;95(4):608-12. doi: 10.1001/archopht.1977.04450040074010. PMID: 557968

Therapy

Velez FG, Davila JP, Diaz A, Corradetti G, Sarraf D, Pineles SL
JAMA Ophthalmol 2018 Sep 1;136(9):1041-1045. doi: 10.1001/jamaophthalmol.2018.2766. PMID: 30003227Free PMC Article
Benson MD, Jivraj I, Damji KF, Solarte CE
J Glaucoma 2017 Feb;26(2):e84-e86. doi: 10.1097/IJG.0000000000000555. PMID: 27661987
Ababneh OH, Yousef YA, Gharaibeh AM, Abu Ameerh MA, Abu-Yaghi NE, Al Bdour MD
Retina 2013 Apr;33(4):748-55. doi: 10.1097/IAE.0b013e3182721153. PMID: 23296048
Dorrell M, Uusitalo-Jarvinen H, Aguilar E, Friedlander M
Surv Ophthalmol 2007 Jan;52 Suppl 1:S3-19. doi: 10.1016/j.survophthal.2006.10.017. PMID: 17240254
Lubinsky MS
Am J Med Genet A 2006 Oct 1;140(19):2080-4. doi: 10.1002/ajmg.a.31303. PMID: 16770809

Prognosis

Saffren B, Price JM, Zhang QE, Hamershock RA, Sharpe J, Levin AV
J AAPOS 2021 Apr;25(2):97.e1-97.e5. Epub 2021 Apr 24 doi: 10.1016/j.jaapos.2020.11.017. PMID: 33901671
Roberts PK, Goldstein DA, Fawzi AA
Curr Eye Res 2017 Aug;42(8):1136-1142. Epub 2017 Apr 25 doi: 10.1080/02713683.2017.1293113. PMID: 28441067Free PMC Article
Rothova A, Ooijman F, Kerkhoff F, Van Der Lelij A, Lokhorst HM
Ophthalmology 2001 Feb;108(2):386-99. doi: 10.1016/s0161-6420(00)00499-1. PMID: 11158819
Mizener JB, Podhajsky P, Hayreh SS
Ophthalmology 1997 May;104(5):859-64. doi: 10.1016/s0161-6420(97)30221-8. PMID: 9160035
Raitta C, Vannas A
Arch Ophthalmol 1977 Apr;95(4):608-12. doi: 10.1001/archopht.1977.04450040074010. PMID: 557968

Clinical prediction guides

Saffren B, Price JM, Zhang QE, Hamershock RA, Sharpe J, Levin AV
J AAPOS 2021 Apr;25(2):97.e1-97.e5. Epub 2021 Apr 24 doi: 10.1016/j.jaapos.2020.11.017. PMID: 33901671
Matsushita I, Morita H, Kondo H
Jpn J Ophthalmol 2020 Nov;64(6):635-641. Epub 2020 Aug 28 doi: 10.1007/s10384-020-00766-9. PMID: 32857266
Pautu V, Mellinger A, Resnier P, Lepeltier E, Martin L, Boussemart L, Letournel F, Passirani C, Clere N
J Cancer Res Clin Oncol 2019 Mar;145(3):589-597. Epub 2018 Dec 13 doi: 10.1007/s00432-018-2809-z. PMID: 30547320
Roberts PK, Goldstein DA, Fawzi AA
Curr Eye Res 2017 Aug;42(8):1136-1142. Epub 2017 Apr 25 doi: 10.1080/02713683.2017.1293113. PMID: 28441067Free PMC Article
Rothova A, Ooijman F, Kerkhoff F, Van Der Lelij A, Lokhorst HM
Ophthalmology 2001 Feb;108(2):386-99. doi: 10.1016/s0161-6420(00)00499-1. PMID: 11158819

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