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Retinal astrocytic hamartoma

MedGen UID:
137924
•Concept ID:
C0339554
•
Neoplastic Process
Synonym: Retinal astrocytoma
SNOMED CT: Retinal astrocytoma (255026000); Intraocular optic nerve glioma (416351002); Intraocular glioma (416351002); Astrocytoma of retina (255026000)
 
HPO: HP:0012778

Definition

A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRetinal astrocytic hamartoma

Professional guidelines

PubMed

Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study.
Ryu S, Kang HC, Lee SC, Byeon SH, Kim SS, Lee CS
Yonsei Med J 2023 Feb;64(2):133-138. doi: 10.3349/ymj.2022.0451. PMID: 36719021Free PMC Article
Treatment of Aggressive Retinal Astrocytic Hamartoma with Oral Mechanistic Target of Rapamycin Inhibition.
Wu F, McGarrey MP, Geenen KR, Skalet AH, Guillot FH, Wilson JL, Shah AS, Gonzalez E, Thiele EA, Kim IK, Aronow ME
Ophthalmol Retina 2022 May;6(5):411-420. Epub 2022 Jan 8 doi: 10.1016/j.oret.2022.01.003. PMID: 35007768

Recent clinical studies

Etiology

Ocular findings in pediatric turner syndrome.
Huang J, Basith SST, Patel S, Goetsch Weisman A, Brickman W, Mets MB, Mets-Halgrimson R
Ophthalmic Genet 2022 Aug;43(4):450-453. Epub 2022 Apr 5 doi: 10.1080/13816810.2022.2045512. PMID: 35382690
Treatment of Aggressive Retinal Astrocytic Hamartoma with Oral Mechanistic Target of Rapamycin Inhibition.
Wu F, McGarrey MP, Geenen KR, Skalet AH, Guillot FH, Wilson JL, Shah AS, Gonzalez E, Thiele EA, Kim IK, Aronow ME
Ophthalmol Retina 2022 May;6(5):411-420. Epub 2022 Jan 8 doi: 10.1016/j.oret.2022.01.003. PMID: 35007768
Optic coherence tomography appearances of retinal astrocytic hamartoma and systemic features in tuberous sclerosis of Japanese patients.
Kato A, Obana A, Gohto Y, Seto T, Sasano H
Eur J Ophthalmol 2019 May;29(3):330-337. Epub 2018 Jul 11 doi: 10.1177/1120672118787441. PMID: 29991284
Retinal Astrocytic Hamartoma Arises in Nerve Fiber Layer and Shows "Moth-Eaten" Optically Empty Spaces on Optical Coherence Tomography.
Shields CL, Say EAT, Fuller T, Arora S, Samara WA, Shields JA
Ophthalmology 2016 Aug;123(8):1809-1816. Epub 2016 May 4 doi: 10.1016/j.ophtha.2016.04.011. PMID: 27157148
RETINAL ASTROCYTIC HAMARTOMA: Optical Coherence Tomography Classification and Correlation With Tuberous Sclerosis Complex.
Pichi F, Massaro D, Serafino M, Carrai P, Giuliari GP, Shields CL, Veronese C, Ciardella AP, Nucci P
Retina 2016 Jun;36(6):1199-208. doi: 10.1097/IAE.0000000000000829. PMID: 26618803

Diagnosis

Isolated retinal astrocytic hamartoma.
Bennett LW
Clin Exp Optom 2020 May;103(3):382-383. Epub 2019 Aug 23 doi: 10.1111/cxo.12956. PMID: 31441104
INVISIBLE, HONEYCOMB-LIKE, CAVITARY RETINAL ASTROCYTIC HAMARTOMA.
Mellen PL, Sioufi K, Shields JA, Shields CL
Retin Cases Brief Rep 2020 Summer;14(3):211-214. doi: 10.1097/ICB.0000000000000697. PMID: 29286955
Clinical Features and Multi-Modality Imaging of Isolated Retinal Astrocytic Hamartoma.
Stacey AW, Pefkianaki M, Ilginis T, Michaelides M, Hykin P, Webster A, Moore AT, Sagoo MS
Ophthalmic Surg Lasers Imaging Retina 2019 Feb 1;50(2):e1-e9. doi: 10.3928/23258160-20190129-12. PMID: 30768223
RETINAL ASTROCYTIC HAMARTOMA: Optical Coherence Tomography Classification and Correlation With Tuberous Sclerosis Complex.
Pichi F, Massaro D, Serafino M, Carrai P, Giuliari GP, Shields CL, Veronese C, Ciardella AP, Nucci P
Retina 2016 Jun;36(6):1199-208. doi: 10.1097/IAE.0000000000000829. PMID: 26618803
Retinal astrocytic hamartoma.
Martin K, Rossi V, Ferrucci S, Pian D
Optometry 2010 May;81(5):221-33. doi: 10.1016/j.optm.2009.12.009. PMID: 20435268

Therapy

Treatment of Aggressive Retinal Astrocytic Hamartoma with Oral Mechanistic Target of Rapamycin Inhibition.
Wu F, McGarrey MP, Geenen KR, Skalet AH, Guillot FH, Wilson JL, Shah AS, Gonzalez E, Thiele EA, Kim IK, Aronow ME
Ophthalmol Retina 2022 May;6(5):411-420. Epub 2022 Jan 8 doi: 10.1016/j.oret.2022.01.003. PMID: 35007768
Everolimus to treat aggressive retinal astrocytic hamartoma in tuberous sclerosis complex.
Nallasamy N, Seider MI, Gururangan S, Mruthyunjaya P
J AAPOS 2017 Aug;21(4):328-331. Epub 2017 Jul 18 doi: 10.1016/j.jaapos.2017.04.012. PMID: 28733147
Sirolimus for Retinal Astrocytic Hamartoma Associated with Tuberous Sclerosis Complex.
Zhang ZQ, Shen C, Long Q, Yang ZK, Dai RP, Wang J, Zhang W, Pan Q, Zhu Z, Xu KF
Ophthalmology 2015 Sep;122(9):1947-9. Epub 2015 Apr 24 doi: 10.1016/j.ophtha.2015.03.023. PMID: 25912145
Combined bevacizumab and triamcinolone acetonide injections for macular edema in a patient with astrocytic hamartomas and tuberous sclerosis.
Lonngi M, Gold AS, Murray TG
Ophthalmic Surg Lasers Imaging Retina 2013 Jan-Feb;44(1):85-90. doi: 10.3928/23258160-20121221-19. PMID: 23410814
Intravitreal ranibizumab for choroidal neovascularization associated with retinal astrocytic hamartoma.
Querques G, Kerrate H, Leveziel N, Coscas G, Soubrane G, Souied EH
Eur J Ophthalmol 2010 Jul-Aug;20(4):789-91. doi: 10.1177/112067211002000424. PMID: 20213614

Prognosis

Isolated retinal astrocytic hamartoma with 7-year follow-up: A case report.
Wójcik-Niklewska B, Sirek S, Tronina A, Filipek E
Medicine (Baltimore) 2023 Sep 1;102(35):e34522. doi: 10.1097/MD.0000000000034522. PMID: 37657027Free PMC Article
Treatment of Aggressive Retinal Astrocytic Hamartoma with Oral Mechanistic Target of Rapamycin Inhibition.
Wu F, McGarrey MP, Geenen KR, Skalet AH, Guillot FH, Wilson JL, Shah AS, Gonzalez E, Thiele EA, Kim IK, Aronow ME
Ophthalmol Retina 2022 May;6(5):411-420. Epub 2022 Jan 8 doi: 10.1016/j.oret.2022.01.003. PMID: 35007768
Long-term follow-up of adult patient with neurofibromatosis type 1 with retinal astrocytic hamartoma using spectral-domain optical coherence tomography: a review of the literature and a report of a case.
Abdolrahimzadeh S, Formisano M, Scuderi L, Rahimi S
Ophthalmic Genet 2021 Apr;42(2):209-215. Epub 2020 Nov 17 doi: 10.1080/13816810.2020.1849315. PMID: 33203322
Clinical features and optical coherence tomography findings of retinal astrocytic hamartomas in Chinese patients with tuberous sclerosis complex.
Zhang C, Xu K, Long Q, Yang Z, Dai R, Du H, Li D, Zhang Z
Graefes Arch Clin Exp Ophthalmol 2020 Apr;258(4):887-892. Epub 2020 Jan 2 doi: 10.1007/s00417-019-04476-y. PMID: 31897702
Retinal astrocytic hamartoma in tuberous sclerosis complex in an elderly person: a case report.
Qin X, Tao Y, Zhang Z
BMC Ophthalmol 2018 Dec 12;18(1):319. doi: 10.1186/s12886-018-0991-z. PMID: 30541513Free PMC Article

Clinical prediction guides

Wide-field Fundus Imaging and Fluorescein Angiography Findings in Various Pseudoretinoblastoma Conditions.
Gündüz AK, Mirzayev I, Tetik D
J Pediatr Ophthalmol Strabismus 2023 Jan-Feb;60(1):60-74. Epub 2022 Apr 21 doi: 10.3928/01913913-20220228-01. PMID: 35446191
Vitreous haemorrhage a rare manifestation of retinal astrocytic hamartoma: a paediatric case report.
Salazar-Quiñones L, Arcos-Villegas G, Valverde-Megías A, Flores-Moreno I, Méndez-Fernández R, Díaz-Valle D
Arch Soc Esp Oftalmol (Engl Ed) 2019 Sep;94(9):449-452. Epub 2019 Jun 12 doi: 10.1016/j.oftal.2019.04.012. PMID: 31202691
Optic coherence tomography appearances of retinal astrocytic hamartoma and systemic features in tuberous sclerosis of Japanese patients.
Kato A, Obana A, Gohto Y, Seto T, Sasano H
Eur J Ophthalmol 2019 May;29(3):330-337. Epub 2018 Jul 11 doi: 10.1177/1120672118787441. PMID: 29991284
Retinal astrocytic hamartoma in tuberous sclerosis complex in an elderly person: a case report.
Qin X, Tao Y, Zhang Z
BMC Ophthalmol 2018 Dec 12;18(1):319. doi: 10.1186/s12886-018-0991-z. PMID: 30541513Free PMC Article
Optical coherence tomography of retinal astrocytic hamartoma in 15 cases.
Shields CL, Benevides R, Materin MA, Shields JA
Ophthalmology 2006 Sep;113(9):1553-7. doi: 10.1016/j.ophtha.2006.03.032. PMID: 16949441

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