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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 termporal retina and may be hemorrhagic or exudative. [from HPO]

Term Hierarchy

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).

Professional guidelines

PubMed

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
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
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

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
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
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
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
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

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
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
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
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
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

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
Cho WH, Chiang WY, Chen CH, Kuo HK
Medicine (Baltimore) 2020 Jan;99(5):e19077. doi: 10.1097/MD.0000000000019077. PMID: 32000459Free PMC Article
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
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
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

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
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
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
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
Dhindsa HS, Abboud EB
Retina 2002 Oct;22(5):607-15. doi: 10.1097/00006982-200210000-00012. PMID: 12441727

Clinical prediction guides

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
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
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
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
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

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