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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
Aortic aneurysms usually have no symptoms. However, depending on the size, growth rate, and location of these abnormalities, they can cause pain in the jaw, neck, chest, or back; swelling in the arms, neck, or head; difficult or painful swallowing; hoarseness; shortness of breath; wheezing; a chronic cough; or coughing up blood. Aortic dissections usually cause severe, sudden chest or back pain, and may also result in unusually pale skin (pallor), a very faint pulse, numbness or tingling (paresthesias) in one or more limbs, or paralysis.\n\nFamilial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta because it is located in the chest (thorax). Other vessels that carry blood from the heart to the rest of the body (arteries) can also be affected.\n\nIn familial TAAD, the aorta can become weakened and stretched (aortic dilatation), which can lead to a bulge in the blood vessel wall (an aneurysm). Aortic dilatation may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection), allowing blood to flow abnormally between the layers. These aortic abnormalities are potentially life-threatening because they can decrease blood flow to other parts of the body such as the brain or other vital organs, or cause the aorta to break open (rupture).\n\nThe occurrence and timing of these aortic abnormalities vary, even within the same affected family. They can begin in childhood or not occur until late in life. Aortic dilatation is generally the first feature of familial TAAD to develop, although in some affected individuals dissection occurs with little or no aortic dilatation.\n\nFamilial TAAD may not be associated with other signs and symptoms. However, some individuals in affected families show mild features of related conditions called Marfan syndrome or Loeys-Dietz syndrome. These features include tall stature, stretch marks on the skin, an unusually large range of joint movement (joint hypermobility), and either a sunken or protruding chest. Occasionally, people with familial TAAD develop aneurysms in the brain or in the section of the aorta located in the abdomen (abdominal aorta). Some people with familial TAAD have heart abnormalities that are present from birth (congenital). Affected individuals may also have a soft out-pouching in the lower abdomen (inguinal hernia), an abnormal curvature of the spine (scoliosis), or a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin (dermal capillaries). However, these conditions are also common in the general population. Depending on the genetic cause of familial TAAD in particular families, they may have an increased risk of developing blockages in smaller arteries, which can lead to heart attack and stroke.

Recent clinical studies

Etiology

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
Risma TB, Alward WL
JAMA Ophthalmol 2014 Jun;132(6):778-80. doi: 10.1001/jamaophthalmol.2014.294. PMID: 24921172
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

MacDonald IM, Modeste D, MacPherson MJ
Ophthalmology 2021 Nov;128(11):1560. doi: 10.1016/j.ophtha.2021.03.034. PMID: 34688429
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
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
Overwater E, Houweling AC
Ophthalmology 2017 Nov;124(11):1711. doi: 10.1016/j.ophtha.2017.05.011. PMID: 29055370
Shields JA, Shields CL
Asia Pac J Ophthalmol (Phila) 2017 Jan-Feb;6(1):64-69. doi: 10.22608/APO.201613. PMID: 28161919

Prognosis

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
Risma TB, Alward WL
JAMA Ophthalmol 2014 Jun;132(6):778-80. doi: 10.1001/jamaophthalmol.2014.294. PMID: 24921172
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

Shields JA, Shields CL
Asia Pac J Ophthalmol (Phila) 2017 Jan-Feb;6(1):64-69. doi: 10.22608/APO.201613. PMID: 28161919
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
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
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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