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Angioid streaks

MedGen UID:
1541
Concept ID:
C0002982
Disease or Syndrome
Synonym: Angioid streaks of the fundus
 
HPO: HP:0001102
Monarch Initiative: MONDO:0011782
OMIM®: 607140

Definition

Angioid streaks are irregular tapering linear breaks in the Bruch membrane that typically emanate from the optic disk (summary by Karacorlu et al., 2002). [from OMIM]

Term Hierarchy

Conditions with this feature

Hyperphosphatasemia with bone disease
MedGen UID:
75678
Concept ID:
C0268414
Disease or Syndrome
Paget disease of bone-5 is an autosomal recessive, juvenile-onset form of Paget disease, a disorder of the skeleton resulting from abnormal bone resorption and formation. Clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness. There is phenotypic variability, with some patients presenting in infancy, while others present later in childhood (summary by Naot et al., 2014). For discussion of genetic heterogeneity of Paget disease of bone, see 167250.
Autosomal recessive inherited pseudoxanthoma elasticum
MedGen UID:
698415
Concept ID:
C1275116
Disease or Syndrome
Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span.
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
MedGen UID:
332067
Concept ID:
C1835813
Disease or Syndrome
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.
PTEN hamartoma tumor syndrome with granular cell tumor
MedGen UID:
400984
Concept ID:
C1866376
Neoplastic Process
Pseudoxanthoma elasticum, forme fruste
MedGen UID:
357280
Concept ID:
C1867450
Disease or Syndrome
Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span.
Cowden syndrome 5
MedGen UID:
767432
Concept ID:
C3554518
Disease or Syndrome
PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.
Cowden syndrome 6
MedGen UID:
767433
Concept ID:
C3554519
Disease or Syndrome
\n\nThe features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors.  Some people with Cowden syndrome have relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other affected individuals have the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome (named for the genetic cause of the conditions) instead of two distinct conditions.\n\nSome people do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of the characteristic features of the condition, particularly the cancers. These individuals are often described as having Cowden-like syndrome. Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes.\n\nCowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include kidney cancer, colorectal cancer, and an agressive form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. People with Cowden syndrome are also more likely to develop more than one cancer during their lifetimes compared to the general population. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication and social interaction.\n\nAlmost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.\n\nCowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.
Tumoral calcinosis, hyperphosphatemic, familial, 1
MedGen UID:
1642611
Concept ID:
C4692564
Disease or Syndrome
Hyperphosphatemic familial tumoral calcinosis (HFTC) is characterized by: Ectopic calcifications (tumoral calcinosis) typically found in periarticular soft tissues exposed to repetitive trauma or prolonged pressure (e.g., hips, elbows, and shoulders); and Painful swellings (referred to as hyperostosis) in the areas overlying the diaphyses of the tibiae (and less often the ulna, metacarpal bones, and radius). The dental phenotype unique to HFTC includes enamel hypoplasia, short and bulbous roots, obliteration of pulp chambers and canals, and pulp stones. Less common are large and small vessel calcifications that are often asymptomatic incidental findings on radiologic studies but can also cause peripheral vascular insufficiency (e.g., pain, cold extremities, and decreased peripheral pulses). Less frequently reported findings include testicular microlithiasis and angioid streaks of the retina.

Professional guidelines

PubMed

Iwanaga A, Utani A, Koike Y, Okubo Y, Kuwatsuka Y, Endo Y, Tanizaki H, Wataya-Kaneda M, Hatamochi A, Minaga K, Ogi T, Yamamoto Y, Ikeda S, Tsuiki E, Tamura H, Maemura K, Kitaoka T, Murota H
J Dermatol 2022 Mar;49(3):e91-e98. Epub 2022 Jan 12 doi: 10.1111/1346-8138.16301. PMID: 35019155
Bartstra JW, Risseeuw S, de Jong PA, van Os B, Kalsbeek L, Mol C, Baas AF, Verschuere S, Vanakker O, Florijn RJ, Hendrikse J, Mali W, Imhof S, Ossewaarde-van Norel J, van Leeuwen R, Spiering W
Atherosclerosis 2021 May;324:18-26. Epub 2021 Mar 13 doi: 10.1016/j.atherosclerosis.2021.03.012. PMID: 33812167
Chatziralli I, Saitakis G, Dimitriou E, Chatzirallis A, Stoungioti S, Theodossiadis G, Theodossiadis P
Retina 2019 Jan;39(1):1-11. doi: 10.1097/IAE.0000000000002327. PMID: 30260918

Recent clinical studies

Etiology

Risseeuw S, Yildirim H, Spiering W, Imhof SM, van Leeuwen R, Ossewaarde-van Norel J
Retin Cases Brief Rep 2022 Jul 1;16(4):422-425. Epub 2020 Mar 20 doi: 10.1097/ICB.0000000000000997. PMID: 32205712
Castany-Aregall M, Aparicio G, Grau N, Carceller A, Pérez-Hoyos S, Català-Mora J, Anton A
Sleep Breath 2021 Mar;25(1):163-169. Epub 2020 Apr 16 doi: 10.1007/s11325-020-02019-y. PMID: 32301031
Nomura Y, Inoue T, Asano S, Shimizu-Asano K, Azuma K, Ogawa A, Murata H, Asaoka R, Obata R
Graefes Arch Clin Exp Ophthalmol 2019 Aug;257(8):1591-1599. Epub 2019 May 1 doi: 10.1007/s00417-019-04332-z. PMID: 31044269
Germain DP
Orphanet J Rare Dis 2017 May 10;12(1):85. doi: 10.1186/s13023-017-0639-8. PMID: 28486967Free PMC Article
Donaldson EJ
Aust J Ophthalmol 1983 Feb;11(1):55-8. PMID: 6870682

Diagnosis

Witkowski C, Dhillon N, Dhillon B
J R Coll Physicians Edinb 2022 Jun;52(2):128-131. Epub 2022 Jun 17 doi: 10.1177/14782715221103686. PMID: 36146987
Choudhary S, Srivastava A, Gupta S
QJM 2021 Jul 28;114(4):274. doi: 10.1093/qjmed/hcaa190. PMID: 32502256
Roach ES, Islam MP
Handb Clin Neurol 2015;132:215-21. doi: 10.1016/B978-0-444-62702-5.00015-9. PMID: 26564082
Donaldson EJ
Aust J Ophthalmol 1983 Feb;11(1):55-8. PMID: 6870682
Clarkson JG, Altman RD
Surv Ophthalmol 1982 Mar-Apr;26(5):235-46. doi: 10.1016/0039-6257(82)90158-8. PMID: 7046115

Therapy

Chatziralli I, Saitakis G, Dimitriou E, Chatzirallis A, Stoungioti S, Theodossiadis G, Theodossiadis P
Retina 2019 Jan;39(1):1-11. doi: 10.1097/IAE.0000000000002327. PMID: 30260918
Weber ML, Heier JS
Dev Ophthalmol 2016;55:167-75. Epub 2015 Oct 26 doi: 10.1159/000431194. PMID: 26501802
Bhoiwala DL, Dunaief JL
Surv Ophthalmol 2016 Jan-Feb;61(1):33-50. Epub 2015 Aug 29 doi: 10.1016/j.survophthal.2015.08.005. PMID: 26325202Free PMC Article
Roach ES, Islam MP
Handb Clin Neurol 2015;132:215-21. doi: 10.1016/B978-0-444-62702-5.00015-9. PMID: 26564082
Shuler MF, Borrillo JL, Ho AC
Curr Opin Ophthalmol 2001 Jun;12(3):202-6. doi: 10.1097/00055735-200106000-00010. PMID: 11389347

Prognosis

Rohart C, Le HM, Estrada-Walker J, Giocanti-Auregan A, Cohen SY
Retina 2023 Jun 1;43(6):882-887. doi: 10.1097/IAE.0000000000003746. PMID: 36727798
Lucas C, Aranha J, da Rocha I, Sousa D
F1000Res 2020;9:9. Epub 2020 Jan 9 doi: 10.12688/f1000research.21431.1. PMID: 32742638Free PMC Article
Nomura Y, Inoue T, Asano S, Shimizu-Asano K, Azuma K, Ogawa A, Murata H, Asaoka R, Obata R
Graefes Arch Clin Exp Ophthalmol 2019 Aug;257(8):1591-1599. Epub 2019 May 1 doi: 10.1007/s00417-019-04332-z. PMID: 31044269
Chatziralli I, Saitakis G, Dimitriou E, Chatzirallis A, Stoungioti S, Theodossiadis G, Theodossiadis P
Retina 2019 Jan;39(1):1-11. doi: 10.1097/IAE.0000000000002327. PMID: 30260918
Georgalas I, Tservakis I, Papaconstaninou D, Kardara M, Koutsandrea C, Ladas I
Clin Exp Optom 2011 Mar;94(2):169-80. Epub 2010 Dec 29 doi: 10.1111/j.1444-0938.2010.00559.x. PMID: 21198842

Clinical prediction guides

Penas SC, Resende JA, Sousa AR, Carneiro ÂV, Reis FF
BMC Ophthalmol 2022 Sep 5;22(1):359. doi: 10.1186/s12886-022-02566-w. PMID: 36064394Free PMC Article
Jin KW, Joo K, Woo SJ
Genes (Basel) 2021 Aug 4;12(8) doi: 10.3390/genes12081207. PMID: 34440381Free PMC Article
Bartstra JW, Risseeuw S, de Jong PA, van Os B, Kalsbeek L, Mol C, Baas AF, Verschuere S, Vanakker O, Florijn RJ, Hendrikse J, Mali W, Imhof S, Ossewaarde-van Norel J, van Leeuwen R, Spiering W
Atherosclerosis 2021 May;324:18-26. Epub 2021 Mar 13 doi: 10.1016/j.atherosclerosis.2021.03.012. PMID: 33812167
Castany-Aregall M, Aparicio G, Grau N, Carceller A, Pérez-Hoyos S, Català-Mora J, Anton A
Sleep Breath 2021 Mar;25(1):163-169. Epub 2020 Apr 16 doi: 10.1007/s11325-020-02019-y. PMID: 32301031
Chatziralli I, Saitakis G, Dimitriou E, Chatzirallis A, Stoungioti S, Theodossiadis G, Theodossiadis P
Retina 2019 Jan;39(1):1-11. doi: 10.1097/IAE.0000000000002327. PMID: 30260918

Recent systematic reviews

Murshidi R, Alnaimat F, Al-Halaseh S, Hanandeh S, Hamad SB, Abdaljaleel M, Al Ryalat N
Rheumatol Int 2024 Feb;44(2):379-396. Epub 2023 Dec 23 doi: 10.1007/s00296-023-05509-w. PMID: 38141121
Liaska A, Petrou P, Georgakopoulos CD, Diamanti R, Papaconstantinou D, Kanakis MG, Georgalas I
BMC Ophthalmol 2016 Jul 8;16:102. doi: 10.1186/s12886-016-0285-2. PMID: 27390837Free PMC Article
Stanga PE, Lim JI, Hamilton P
Ophthalmology 2003 Jan;110(1):15-21; quiz 22-3. doi: 10.1016/s0161-6420(02)01563-4. PMID: 12511340

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