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Iris flocculi

MedGen UID:
1393819
•Concept ID:
C4477072
•
Anatomical Abnormality
HPO: HP:0500007

Definition

Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIris flocculi

Conditions with this feature

Aortic aneurysm, familial thoracic 6
MedGen UID:
435866
•Concept ID:
C2673186
•
Disease or Syndrome
Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.
See: Condition Record
Aortic aneurysm, familial thoracic 6

Recent clinical studies

Etiology

Iris anomalies and the incidence of ACTA2 mutation.
Taubenslag KJ, Scanga HL, Huey J, Lee J, Medsinge A, Sylvester CL, Cheng KP, Nischal KK
Br J Ophthalmol 2019 Apr;103(4):499-503. Epub 2018 Jun 6 doi: 10.1136/bjophthalmol-2018-312306. PMID: 29875232
Successful long-term management of iris flocculi and miosis in a patient with a strong family history of thoracic aortic aneurysms and dissections associated with an MYH11 mutation.
Risma TB, Alward WL
JAMA Ophthalmol 2014 Jun;132(6):778-80. doi: 10.1001/jamaophthalmol.2014.294. PMID: 24921172
Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2).
Disabella E, Grasso M, Gambarin FI, Narula N, Dore R, Favalli V, Serio A, Antoniazzi E, Mosconi M, Pasotti M, Odero A, Arbustini E
Heart 2011 Feb;97(4):321-6. Epub 2011 Jan 6 doi: 10.1136/hrt.2010.204388. PMID: 21212136

Diagnosis

Iris Flocculi Investigated for Familial Thoracic Aortic Aneurysms and Dissections.
MacDonald IM, Modeste D, MacPherson MJ
Ophthalmology 2021 Nov;128(11):1560. doi: 10.1016/j.ophtha.2021.03.034. PMID: 34688429
A child with bilateral iris cysts: Iris Flocculi.
Quiroz Quiroga MJ, Del Prado C, Morales M
J Fr Ophtalmol 2020 Dec;43(10):1105-1106. Epub 2020 Sep 15 doi: 10.1016/j.jfo.2020.04.025. PMID: 32948354
Iris anomalies and the incidence of ACTA2 mutation.
Taubenslag KJ, Scanga HL, Huey J, Lee J, Medsinge A, Sylvester CL, Cheng KP, Nischal KK
Br J Ophthalmol 2019 Apr;103(4):499-503. Epub 2018 Jun 6 doi: 10.1136/bjophthalmol-2018-312306. PMID: 29875232
Iris Flocculi and Type B Aortic Dissection.
Overwater E, Houweling AC
Ophthalmology 2017 Nov;124(11):1711. doi: 10.1016/j.ophtha.2017.05.011. PMID: 29055370
Cysts of the Iris Pigment Epithelium. What Is New and Interesting? The 2016 Jose Rizal International Medal Lecture.
Shields JA, Shields CL
Asia Pac J Ophthalmol (Phila) 2017 Jan-Feb;6(1):64-69. doi: 10.22608/APO.201613. PMID: 28161919

Prognosis

Iris anomalies and the incidence of ACTA2 mutation.
Taubenslag KJ, Scanga HL, Huey J, Lee J, Medsinge A, Sylvester CL, Cheng KP, Nischal KK
Br J Ophthalmol 2019 Apr;103(4):499-503. Epub 2018 Jun 6 doi: 10.1136/bjophthalmol-2018-312306. PMID: 29875232
Successful long-term management of iris flocculi and miosis in a patient with a strong family history of thoracic aortic aneurysms and dissections associated with an MYH11 mutation.
Risma TB, Alward WL
JAMA Ophthalmol 2014 Jun;132(6):778-80. doi: 10.1001/jamaophthalmol.2014.294. PMID: 24921172
Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation.
Yoo EH, Choi SH, Jang SY, Suh YL, Lee I, Song JK, Choe YH, Kim JW, Ki CS, Kim DK
Ann Clin Lab Sci 2010 Summer;40(3):278-84. PMID: 20689142

Clinical prediction guides

Cysts of the Iris Pigment Epithelium. What Is New and Interesting? The 2016 Jose Rizal International Medal Lecture.
Shields JA, Shields CL
Asia Pac J Ophthalmol (Phila) 2017 Jan-Feb;6(1):64-69. doi: 10.22608/APO.201613. PMID: 28161919
Identification of six novel mutations in ZEB1 and description of the associated phenotypes in patients with posterior polymorphous corneal dystrophy 3.
Evans CJ, Liskova P, Dudakova L, Hrabcikova P, Horinek A, Jirsova K, Filipec M, Hardcastle AJ, Davidson AE, Tuft SJ
Ann Hum Genet 2015 Jan;79(1):1-9. Epub 2014 Dec 1 doi: 10.1111/ahg.12090. PMID: 25441224
Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2).
Disabella E, Grasso M, Gambarin FI, Narula N, Dore R, Favalli V, Serio A, Antoniazzi E, Mosconi M, Pasotti M, Odero A, Arbustini E
Heart 2011 Feb;97(4):321-6. Epub 2011 Jan 6 doi: 10.1136/hrt.2010.204388. PMID: 21212136
Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation.
Yoo EH, Choi SH, Jang SY, Suh YL, Lee I, Song JK, Choe YH, Kim JW, Ki CS, Kim DK
Ann Clin Lab Sci 2010 Summer;40(3):278-84. PMID: 20689142

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