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Retinal arterial macroaneurysms

MedGen UID:
602318
•Concept ID:
C0423402
•
Acquired Abnormality
Synonyms: Arteriolar Macroaneurysm, Retinal; Macroaneurysm, Retinal; Macroaneurysm, Retinal Arterial; Macroaneurysm, Retinal Arteriolar; Retinal Arterial Macroaneurysm; Retinal Arterial Macroaneurysms; Retinal Arteriolar Macroaneurysm; Retinal Arteriolar Macroaneurysms; Retinal Macroaneurysm; Retinal Macroaneurysms
SNOMED CT: Retinal macroaneurysm (247124009)
 
HPO: HP:0025355

Definition

Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the temporal retina and may be hemorrhagic or exudative. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRetinal arterial macroaneurysms

Conditions with this feature

Familial retinal arterial macroaneurysm
MedGen UID:
481835
•Concept ID:
C3280205
•
Disease or Syndrome
Retinal arterial macroaneurysm is an autosomal recessive condition characterized by the bilateral appearance of 'beading' along the major retinal arterial trunks, with the subsequent formation of macroaneurysms. Affected individuals also have supravalvular pulmonic stenosis, often requiring surgical correction (summary by Abu-Safieh et al., 2011).
See: Condition Record
Familial retinal arterial macroaneurysm

Professional guidelines

PubMed

Observation, laser photocoagulation or anti-VEGF therapy in the management of retinal arterial macroaneurysms.
Wang Y, Du H, Zhao X, Meng L, Chen Y
BMC Ophthalmol 2022 Nov 2;22(1):417. doi: 10.1186/s12886-022-02641-2. PMID: 36324109Free PMC Article
Retinal arterial macroaneurysms: clinical, angiographic, and tomographic description and therapeutic management of a series of 14 cases.
Cahuzac A, Scemama C, Mauget-Faÿsse M, Sahel JA, Wolff B
Eur J Ophthalmol 2016 Jan-Feb;26(1):36-43. Epub 2015 Jul 2 doi: 10.5301/ejo.5000641. PMID: 26165327
Management of submacular hemorrhage associated with retinal arterial macroaneurysms.
Humayun M, Lewis H, Flynn HW Jr, Sternberg P Jr, Blumenkranz MS
Am J Ophthalmol 1998 Sep;126(3):358-61. doi: 10.1016/s0002-9394(98)00090-7. PMID: 9744368

Recent clinical studies

Etiology

DETECTION AND CHARACTERISTICS OF UNRUPTURED RETINAL ARTERIAL MACROANEURYSMS.
Sakaguchi S, Muraoka Y, Nishigori N, Ishikura M, Kadomoto S, Miyata M, Murakami T, Ooto S, Tsujikawa A
Retina 2022 Oct 1;42(10):1909-1914. doi: 10.1097/IAE.0000000000003548. PMID: 35916886
Three-dimensional locations of ruptured retinal arterial macroaneurysms and their associations with the visual prognosis.
Sakaguchi S, Muraoka Y, Kadomoto S, Ooto S, Murakami T, Nishigori N, Ishikura M, Miyake M, Miyata M, Uji A, Tsujikawa A
Sci Rep 2022 Jan 11;12(1):503. doi: 10.1038/s41598-021-04500-4. PMID: 35017582Free PMC Article
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.
Alkuraya H, Patel N, Ibrahim N, Al Ghamdi B, Alsulaiman SM, Nowilaty SR, Abboud E, Alturki R, Alkharashi A, Eyaid W, Almasseri Z, Alzaidan H, Alotaibi MD, Abu El-Asrar AM, Alamro B, Helaby R, Elshaer A, Almontashiri NAM, Al-Hussaini AA, Alkuraya FS
Clin Genet 2020 Mar;97(3):447-456. Epub 2019 Dec 2 doi: 10.1111/cge.13676. PMID: 31730227
Angiographic features and disease outcomes of symptomatic retinal arterial macroaneurysms.
Hughes EL, Dooley IJ, Kennelly KP, Doyle F, Siah WF, Connell P
Graefes Arch Clin Exp Ophthalmol 2016 Nov;254(11):2203-2207. Epub 2016 May 25 doi: 10.1007/s00417-016-3388-9. PMID: 27221656
Retinal arterial macroaneurysms.
Pitkänen L, Tommila P, Kaarniranta K, Jääskeläinen JE, Kinnunen K
Acta Ophthalmol 2014 Mar;92(2):101-4. Epub 2013 Jun 25 doi: 10.1111/aos.12210. PMID: 23800325

Diagnosis

DETECTION AND CHARACTERISTICS OF UNRUPTURED RETINAL ARTERIAL MACROANEURYSMS.
Sakaguchi S, Muraoka Y, Nishigori N, Ishikura M, Kadomoto S, Miyata M, Murakami T, Ooto S, Tsujikawa A
Retina 2022 Oct 1;42(10):1909-1914. doi: 10.1097/IAE.0000000000003548. PMID: 35916886
Angiographic features and disease outcomes of symptomatic retinal arterial macroaneurysms.
Hughes EL, Dooley IJ, Kennelly KP, Doyle F, Siah WF, Connell P
Graefes Arch Clin Exp Ophthalmol 2016 Nov;254(11):2203-2207. Epub 2016 May 25 doi: 10.1007/s00417-016-3388-9. PMID: 27221656
Ruptured retinal arterial macroaneurysm: diagnosis and management.
Speilburg AM, Klemencic SA
J Optom 2014 Jul-Sep;7(3):131-7. Epub 2013 Sep 26 doi: 10.1016/j.optom.2013.08.002. PMID: 25000868Free PMC Article
Retinal arterial macroaneurysms.
Pitkänen L, Tommila P, Kaarniranta K, Jääskeläinen JE, Kinnunen K
Acta Ophthalmol 2014 Mar;92(2):101-4. Epub 2013 Jun 25 doi: 10.1111/aos.12210. PMID: 23800325
Retinal arterial macroaneurysms.
Rabb MF, Gagliano DA, Teske MP
Surv Ophthalmol 1988 Sep-Oct;33(2):73-96. doi: 10.1016/0039-6257(88)90160-9. PMID: 3055391

Therapy

Observation, laser photocoagulation or anti-VEGF therapy in the management of retinal arterial macroaneurysms.
Wang Y, Du H, Zhao X, Meng L, Chen Y
BMC Ophthalmol 2022 Nov 2;22(1):417. doi: 10.1186/s12886-022-02641-2. PMID: 36324109Free PMC Article
To treat or not to treat: a clinical series of retinal arterial macroaneurysms: A single-center retrospective study.
Cho WH, Chiang WY, Chen CH, Kuo HK
Medicine (Baltimore) 2020 Jan;99(5):e19077. doi: 10.1097/MD.0000000000019077. PMID: 32000459Free PMC Article
Retinal arterial macroaneurysms: clinical, angiographic, and tomographic description and therapeutic management of a series of 14 cases.
Cahuzac A, Scemama C, Mauget-Faÿsse M, Sahel JA, Wolff B
Eur J Ophthalmol 2016 Jan-Feb;26(1):36-43. Epub 2015 Jul 2 doi: 10.5301/ejo.5000641. PMID: 26165327
Ruptured retinal arterial macroaneurysm: diagnosis and management.
Speilburg AM, Klemencic SA
J Optom 2014 Jul-Sep;7(3):131-7. Epub 2013 Sep 26 doi: 10.1016/j.optom.2013.08.002. PMID: 25000868Free PMC Article
Retinal arterial macroaneurysms.
Rabb MF, Gagliano DA, Teske MP
Surv Ophthalmol 1988 Sep-Oct;33(2):73-96. doi: 10.1016/0039-6257(88)90160-9. PMID: 3055391

Prognosis

Three-dimensional locations of ruptured retinal arterial macroaneurysms and their associations with the visual prognosis.
Sakaguchi S, Muraoka Y, Kadomoto S, Ooto S, Murakami T, Nishigori N, Ishikura M, Miyake M, Miyata M, Uji A, Tsujikawa A
Sci Rep 2022 Jan 11;12(1):503. doi: 10.1038/s41598-021-04500-4. PMID: 35017582Free PMC Article
Clinical characteristics of retinal arterial macroaneurysms and prognosis of different interventions.
Chen H, Zhao XY, Meng LH, Zhang WF, Chen YX
Graefes Arch Clin Exp Ophthalmol 2022 Feb;260(2):439-450. Epub 2021 Aug 28 doi: 10.1007/s00417-021-05364-0. PMID: 34453606
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.
Alkuraya H, Patel N, Ibrahim N, Al Ghamdi B, Alsulaiman SM, Nowilaty SR, Abboud E, Alturki R, Alkharashi A, Eyaid W, Almasseri Z, Alzaidan H, Alotaibi MD, Abu El-Asrar AM, Alamro B, Helaby R, Elshaer A, Almontashiri NAM, Al-Hussaini AA, Alkuraya FS
Clin Genet 2020 Mar;97(3):447-456. Epub 2019 Dec 2 doi: 10.1111/cge.13676. PMID: 31730227
Angiographic features and disease outcomes of symptomatic retinal arterial macroaneurysms.
Hughes EL, Dooley IJ, Kennelly KP, Doyle F, Siah WF, Connell P
Graefes Arch Clin Exp Ophthalmol 2016 Nov;254(11):2203-2207. Epub 2016 May 25 doi: 10.1007/s00417-016-3388-9. PMID: 27221656
Ruptured retinal arterial macroaneurysm: diagnosis and management.
Speilburg AM, Klemencic SA
J Optom 2014 Jul-Sep;7(3):131-7. Epub 2013 Sep 26 doi: 10.1016/j.optom.2013.08.002. PMID: 25000868Free PMC Article

Clinical prediction guides

Appearance of retinal arterial macroaneurysms in patients using swept-source optical coherence tomographic angiography.
Song Y, Zhang W, Yu S, Gong Y
BMC Ophthalmol 2023 Jun 16;23(1):280. doi: 10.1186/s12886-023-03016-x. PMID: 37328806Free PMC Article
DETECTION AND CHARACTERISTICS OF UNRUPTURED RETINAL ARTERIAL MACROANEURYSMS.
Sakaguchi S, Muraoka Y, Nishigori N, Ishikura M, Kadomoto S, Miyata M, Murakami T, Ooto S, Tsujikawa A
Retina 2022 Oct 1;42(10):1909-1914. doi: 10.1097/IAE.0000000000003548. PMID: 35916886
Clinical characteristics of retinal arterial macroaneurysms and prognosis of different interventions.
Chen H, Zhao XY, Meng LH, Zhang WF, Chen YX
Graefes Arch Clin Exp Ophthalmol 2022 Feb;260(2):439-450. Epub 2021 Aug 28 doi: 10.1007/s00417-021-05364-0. PMID: 34453606
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.
Alkuraya H, Patel N, Ibrahim N, Al Ghamdi B, Alsulaiman SM, Nowilaty SR, Abboud E, Alturki R, Alkharashi A, Eyaid W, Almasseri Z, Alzaidan H, Alotaibi MD, Abu El-Asrar AM, Alamro B, Helaby R, Elshaer A, Almontashiri NAM, Al-Hussaini AA, Alkuraya FS
Clin Genet 2020 Mar;97(3):447-456. Epub 2019 Dec 2 doi: 10.1111/cge.13676. PMID: 31730227
Ruptured retinal arterial macroaneurysm: diagnosis and management.
Speilburg AM, Klemencic SA
J Optom 2014 Jul-Sep;7(3):131-7. Epub 2013 Sep 26 doi: 10.1016/j.optom.2013.08.002. PMID: 25000868Free PMC Article

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