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Combined hamartoma of the retinal pigment epithelium and retina

MedGen UID:
396281
Concept ID:
C1862062
Neoplastic Process
Synonym: Combined hamartoma of the retina and retinal pigment epithelium
SNOMED CT: Combined hamartoma of retina and retinal pigment epithelium (1229998009); CHR-RPE - combined hamartoma of retina and retinal pigment epithelium (1229998009)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0030510
Monarch Initiative: MONDO:0018607
Orphanet: ORPHA440727

Definition

A rare benign eye tumour characterised by the presence of glial cells, vascular tissue and sheets of pigment epithelial cells lacking the distribution and organisation of the normal retina and retinal pigment epithelium. The lesion is most commonly found unilaterally as a slightly elevated mass in a peripapillary location but can also occur in the macula or the retinal periphery. It is sometimes associated with neurofibromatosis type 1 or 2, naevoid basal cell carcinoma syndrome, or branchio-oculo-facial syndrome. Patients may be asymptomatic or present with progressive loss of vision. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCombined hamartoma of the retinal pigment epithelium and retina

Recent clinical studies

Etiology

Ozdek S, Ucgul AY, Hartnett ME, Akdogan M, Sen P, Bhende M, Besirli CG, Karacorlu M, Dedania V, Parolini B, Mittal S, Banker A, El Rayes E, Tawfik M, Wu WC, Attiku Y, Hansen E, Portney D, Sarvaiya C, Sahin O, Ozdemir HB, Gurelik G
Retina 2023 Feb 1;43(2):338-347. doi: 10.1097/IAE.0000000000003652. PMID: 36228191
Ledesma-Gil G, Essilfie J, Gupta R, Fung AT, Lupidi M, Pappuru RR, Nayak S, Sahoo NK, Kaliki S, Yannuzzi LA, Reid K, Lim L, Sacconi R, Dave V, Singh SR, Ayachit A, Gabrielle PH, Cai S, Lima LH, Querques G, Arevalo JF, Freund KB, Shields CL, Chhablani J
Ophthalmol Retina 2021 Nov;5(11):1156-1163. Epub 2021 Jan 28 doi: 10.1016/j.oret.2021.01.011. PMID: 33516918
Gupta R, Fung AT, Lupidi M, Pappuru RR, Nayak S, Sahoo NK, Kaliki S, Yannuzzi L, Reid K, Lim L, Sacconi R, Dave V, Singh SR, Ayachit A, Gabrielle PH, Cai S, Lima LH, Querques G, Arevalo JF, Freund KB, Shields CL, Chhablani J
Am J Ophthalmol 2019 Apr;200:263-269. Epub 2019 Jan 26 doi: 10.1016/j.ajo.2019.01.016. PMID: 30689986
Chawla R, Kumar V, Tripathy K, Kumar A, Venkatesh P, Shaikh F, Vohra R, Molla K, Verma S
Am J Ophthalmol 2017 Sep;181:88-96. Epub 2017 Jun 29 doi: 10.1016/j.ajo.2017.06.020. PMID: 28669779
Shields JA, Shields CL
Asia Pac J Ophthalmol (Phila) 2017 Mar-Apr;6(2):215-223. doi: 10.22608/APO.201705. PMID: 28399346

Diagnosis

Chung AD, Randolph JD
J Fr Ophtalmol 2023 Feb;46(2):200. Epub 2023 Jan 18 doi: 10.1016/j.jfo.2022.09.015. PMID: 36670015
Ozdek S, Ucgul AY, Hartnett ME, Akdogan M, Sen P, Bhende M, Besirli CG, Karacorlu M, Dedania V, Parolini B, Mittal S, Banker A, El Rayes E, Tawfik M, Wu WC, Attiku Y, Hansen E, Portney D, Sarvaiya C, Sahin O, Ozdemir HB, Gurelik G
Retina 2023 Feb 1;43(2):338-347. doi: 10.1097/IAE.0000000000003652. PMID: 36228191
Ruzicki JL, Baker CF
Can J Ophthalmol 2023 Feb;58(1):e27. Epub 2022 Jul 6 doi: 10.1016/j.jcjo.2022.06.005. PMID: 35809621
Mirzayev I, Gündüz AK
Turk J Ophthalmol 2022 Dec 28;52(6):421-431. doi: 10.4274/tjo.galenos.2022.25979. PMID: 36578224Free PMC Article
Sprenger F, Hokazono K, de Souza Crippa AC, de Almeida Teixeira BC
J Neuroophthalmol 2022 Dec 1;42(4):e591-e592. Epub 2022 Apr 27 doi: 10.1097/WNO.0000000000001557. PMID: 35483063

Therapy

Gupta R, Pappuru RR, Dave VP, Chhablani J
Indian J Ophthalmol 2018 Dec;66(12):1866-1868. doi: 10.4103/ijo.IJO_992_18. PMID: 30451207Free PMC Article
Bonnin S, Metge F, Guez A, Edelson C, Dureau P, Caputo G
Retina 2016 Mar;36(3):558-64. doi: 10.1097/IAE.0000000000000732. PMID: 26352556
Zhang X, Dong F, Dai R, Yu W
Retina 2010 Feb;30(2):305-9. PMID: 20175272
Cohn AD, Quiram PA, Drenser KA, Trese MT, Capone A Jr
Retina 2009 Jun;29(6):825-30. doi: 10.1097/IAE.0b013e31819b1788. PMID: 19276871
Mason JO 3rd, Kleiner R
Retina 1997;17(2):160-2. PMID: 9143046

Prognosis

Verbeek S, Dalvin LA
Can J Ophthalmol 2024 Aug;59(4):218-233. Epub 2023 Jul 19 doi: 10.1016/j.jcjo.2023.07.005. PMID: 37480939Free PMC Article
Sun LS, Raouf S, Rhee D, Ferrone PJ
Ophthalmic Surg Lasers Imaging Retina 2020 Oct 1;51(10):546-554. doi: 10.3928/23258160-20201005-02. PMID: 33104221
Kumar V, Chawla R, Tripathy K
Ophthalmic Surg Lasers Imaging Retina 2017 Feb 1;48(2):122-125. doi: 10.3928/23258160-20170130-05. PMID: 28195614
Shields CL, Thangappan A, Hartzell K, Valente P, Pirondini C, Shields JA
Ophthalmology 2008 Dec;115(12):2246-2252.e3. Epub 2008 Nov 7 doi: 10.1016/j.ophtha.2008.08.008. PMID: 18995912
Schachat AP, Shields JA, Fine SL, Sanborn GE, Weingeist TA, Valenzuela RE, Brucker AJ
Ophthalmology 1984 Dec;91(12):1609-15. doi: 10.1016/s0161-6420(84)34094-5. PMID: 6521994

Clinical prediction guides

Mirzayev I, Gündüz AK
Turk J Ophthalmol 2022 Dec 28;52(6):421-431. doi: 10.4274/tjo.galenos.2022.25979. PMID: 36578224Free PMC Article
Zhu Z, Xiao J, Luo L, Yang B, Zou H, Zhang C
BMC Ophthalmol 2022 Jan 15;22(1):24. doi: 10.1186/s12886-022-02244-x. PMID: 35033040Free PMC Article
Gupta R, Fung AT, Lupidi M, Pappuru RR, Nayak S, Sahoo NK, Kaliki S, Yannuzzi L, Reid K, Lim L, Sacconi R, Dave V, Singh SR, Ayachit A, Gabrielle PH, Cai S, Lima LH, Querques G, Arevalo JF, Freund KB, Shields CL, Chhablani J
Am J Ophthalmol 2019 Apr;200:263-269. Epub 2019 Jan 26 doi: 10.1016/j.ajo.2019.01.016. PMID: 30689986
Chawla R, Kumar V, Tripathy K, Kumar A, Venkatesh P, Shaikh F, Vohra R, Molla K, Verma S
Am J Ophthalmol 2017 Sep;181:88-96. Epub 2017 Jun 29 doi: 10.1016/j.ajo.2017.06.020. PMID: 28669779
Arepalli S, Pellegrini M, Ferenczy SR, Shields CL
Retina 2014 Nov;34(11):2202-7. doi: 10.1097/IAE.0000000000000220. PMID: 25102194

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