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Gyrate atrophy(HOGA; GACR)

MedGen UID:
6695
Concept ID:
C0018425
Disease or Syndrome
Synonyms: Atrophy, Gyrate; Gyrate Atrophy; Gyrate Atrophy of Choroid and Retina; Gyrate Atrophy of the Choroid and Retina; Hyperornithinemia with Gyrate Atrophy of Choroid and Retina; Ornithinemia with Gyrate Atrophy
SNOMED CT: Gyrate atrophy (314467007); Gyrate atrophy of choroid and retina (314467007)
 
OMIM®: 258870; 613349

Definition

A rare autosomal recessive inherited disorder caused by mutations in the OAT gene. It is characterized by progressive atrophy of the retina and choroid, leading to loss of vision and blindness. [from NCI]

Term Hierarchy

Recent clinical studies

Etiology

Zekušić M, Škaričić A, Fumić K, Rogić D, Žigman T, Petković Ramadža D, Vukojević N, Rüfenacht V, Uroić V, Barić I
Biochem Med (Zagreb) 2018 Oct 15;28(3):030801. doi: 10.11613/BM.2018.030801. PMID: 30429681Free PMC Article
Zhioua Braham I, Ammous I, Maalej R, Boukari M, Mili Boussen I, Errais K, Zhioua R
BMC Ophthalmol 2018 Apr 12;18(1):89. doi: 10.1186/s12886-018-0755-9. PMID: 29649987Free PMC Article
Salcedo-Villanueva G, Paciuc-Beja M, Villanueva-Mendoza C, Harasawa M, Smith JM, Velez-Montoya R, Olson JL, Oliver SC, Mandava N, Quiroz-Mercado H
Int Ophthalmol 2016 Feb;36(1):111-120. Epub 2015 May 26 doi: 10.1007/s10792-015-0085-3. PMID: 26003990
Katagiri S, Gekka T, Hayashi T, Ida H, Ohashi T, Eto Y, Tsuneoka H
Doc Ophthalmol 2014 Apr;128(2):137-48. Epub 2014 Jan 16 doi: 10.1007/s10633-014-9426-1. PMID: 24429551
Renner AB, Walter A, Fiebig BS, Jägle H
Doc Ophthalmol 2012 Aug;125(1):81-9. Epub 2012 Jun 7 doi: 10.1007/s10633-012-9335-0. PMID: 22674428

Diagnosis

Elnahry AG, Hassan FK, Abdel-Kader AA
Ophthalmic Genet 2018 Dec;39(6):759-762. Epub 2018 Oct 18 doi: 10.1080/13816810.2018.1536220. PMID: 30335551
Cui X, Jauregui R, Park KS, Tsang SH
Ophthalmic Genet 2018 Aug;39(4):512-516. Epub 2018 May 14 doi: 10.1080/13816810.2018.1474370. PMID: 29757052Free PMC Article
Jasani KM, Parry NRA, Black G, Kelly SP
BMJ Case Rep 2018 Feb 5;2018 doi: 10.1136/bcr-2016-217556. PMID: 29437727
Inanc M, Tekin K, Teke MY
Int Ophthalmol 2018 Jun;38(3):1351-1355. Epub 2017 May 30 doi: 10.1007/s10792-017-0579-2. PMID: 28560651
Bhakhri R, Ridder WH 3rd
Optom Vis Sci 2016 Sep;93(9):1173-80. doi: 10.1097/OPX.0000000000000906. PMID: 27309525

Therapy

Elnahry AG, Hassan FK, Abdel-Kader AA
Ophthalmic Genet 2018 Dec;39(6):759-762. Epub 2018 Oct 18 doi: 10.1080/13816810.2018.1536220. PMID: 30335551
Cui X, Jauregui R, Park KS, Tsang SH
Ophthalmic Genet 2018 Aug;39(4):512-516. Epub 2018 May 14 doi: 10.1080/13816810.2018.1474370. PMID: 29757052Free PMC Article
Jasani KM, Parry NRA, Black G, Kelly SP
BMJ Case Rep 2018 Feb 5;2018 doi: 10.1136/bcr-2016-217556. PMID: 29437727
Inanc M, Tekin K, Teke MY
Int Ophthalmol 2018 Jun;38(3):1351-1355. Epub 2017 May 30 doi: 10.1007/s10792-017-0579-2. PMID: 28560651
Heller D, Weiner C, Nasie I, Anikster Y, Landau Y, Koren T, Pokroy R, Abulafia A, Pras E
Ophthalmic Genet 2017 Dec;38(6):549-554. Epub 2017 Apr 7 doi: 10.1080/13816810.2017.1301966. PMID: 28388263

Prognosis

Zekušić M, Škaričić A, Fumić K, Rogić D, Žigman T, Petković Ramadža D, Vukojević N, Rüfenacht V, Uroić V, Barić I
Biochem Med (Zagreb) 2018 Oct 15;28(3):030801. doi: 10.11613/BM.2018.030801. PMID: 30429681Free PMC Article
Cui X, Jauregui R, Park KS, Tsang SH
Ophthalmic Genet 2018 Aug;39(4):512-516. Epub 2018 May 14 doi: 10.1080/13816810.2018.1474370. PMID: 29757052Free PMC Article
Sebrow DB, Jung JJ, Dagi Glass LR, Horowitz J, Chang S
Ophthalmic Surg Lasers Imaging Retina 2015 Mar;46(3):387-90. doi: 10.3928/23258160-20150323-17. PMID: 25856828
Renner AB, Walter A, Fiebig BS, Jägle H
Doc Ophthalmol 2012 Aug;125(1):81-9. Epub 2012 Jun 7 doi: 10.1007/s10633-012-9335-0. PMID: 22674428
Santinelli R, Costagliola C, Tolone C, D'Aloia A, D'Avanzo A, Prisco F, Perrone L, del Giudice EM
J Inherit Metab Dis 2004;27(2):187-96. doi: 10.1023/B:BOLI.0000028779.29966.05. PMID: 15159649

Clinical prediction guides

Zekušić M, Škaričić A, Fumić K, Rogić D, Žigman T, Petković Ramadža D, Vukojević N, Rüfenacht V, Uroić V, Barić I
Biochem Med (Zagreb) 2018 Oct 15;28(3):030801. doi: 10.11613/BM.2018.030801. PMID: 30429681Free PMC Article
Cui X, Jauregui R, Park KS, Tsang SH
Ophthalmic Genet 2018 Aug;39(4):512-516. Epub 2018 May 14 doi: 10.1080/13816810.2018.1474370. PMID: 29757052Free PMC Article
Zhioua Braham I, Ammous I, Maalej R, Boukari M, Mili Boussen I, Errais K, Zhioua R
BMC Ophthalmol 2018 Apr 12;18(1):89. doi: 10.1186/s12886-018-0755-9. PMID: 29649987Free PMC Article
Salcedo-Villanueva G, Paciuc-Beja M, Villanueva-Mendoza C, Harasawa M, Smith JM, Velez-Montoya R, Olson JL, Oliver SC, Mandava N, Quiroz-Mercado H
Int Ophthalmol 2016 Feb;36(1):111-120. Epub 2015 May 26 doi: 10.1007/s10792-015-0085-3. PMID: 26003990
Kim SJ, Lim DH, Kim JH, Kang SW
Korean J Ophthalmol 2013 Oct;27(5):388-91. Epub 2013 Sep 10 doi: 10.3341/kjo.2013.27.5.388. PMID: 24082780Free PMC Article

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