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Retinal hamartoma

MedGen UID:
354977
Concept ID:
C1863411
Finding; Neoplastic Process
Synonyms: Retinal Hamartoma; Simple and Combined Hamartomas of the Retinal Pigment Epithelium
 
HPO: HP:0009594

Definition

A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina. [from HPO]

Conditions with this feature

Neurofibromatosis, type 2
MedGen UID:
18014
Concept ID:
C0027832
Neoplastic Process
Neurofibromatosis 2 (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and, very rarely, astrocytomas. Because NF2 is considered an adult-onset disease, it may be underrecognized in children, in whom skin tumors and ocular findings (retinal hamartoma, thickened optic nerves, cortical wedge cataracts, third cranial nerve palsy) may be the first manifestations. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy or hand/foot drop.
Tuberous sclerosis 1
MedGen UID:
344288
Concept ID:
C1854465
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Tuberous sclerosis 2
MedGen UID:
348170
Concept ID:
C1860707
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.

Professional guidelines

PubMed

Gumbinger C, Rohsbach CB, Schulze-Bonhage A, Korinthenberg R, Zentner J, Häffner M, Fauser S
Epilepsia 2009 Jun;50(6):1396-408. Epub 2009 Jan 21 doi: 10.1111/j.1528-1167.2008.01979.x. PMID: 19175396
Mennel S, Meyer CH, Peter S, Schmidt JC, Kroll P
Acta Ophthalmol Scand 2007 Mar;85(2):127-32. doi: 10.1111/j.1600-0420.2006.00781.x. PMID: 17305725

Recent clinical studies

Etiology

Prelevic V, Juric I, Bevc S, Marcun-Varda N, Aleckovic-Halilovic M, Mesic E, Bilic H, Grujicic M, Zabic I, Josipovic J, Vujicic B, Marinaki S, Simic-Ogrizovic S, Milinkovic M, Azasevac T, Idrizi A, Arnol M, Radunovic D, Antunovic T, Jukic NB
Int Urol Nephrol 2023 Feb;55(2):477-482. Epub 2022 Aug 28 doi: 10.1007/s11255-022-03352-9. PMID: 36030358
Emmanouil B, Wasik M, Charbel Issa P, Halliday D, Parry A, Sharma SM
Ophthalmic Res 2022;65(1):77-85. Epub 2021 Oct 21 doi: 10.1159/000519143. PMID: 34673638
Gumbinger C, Rohsbach CB, Schulze-Bonhage A, Korinthenberg R, Zentner J, Häffner M, Fauser S
Epilepsia 2009 Jun;50(6):1396-408. Epub 2009 Jan 21 doi: 10.1111/j.1528-1167.2008.01979.x. PMID: 19175396
Mullaney PB, Jacquemin C, Abboud E, Karcioglu ZA
J Pediatr Ophthalmol Strabismus 1997 Nov-Dec;34(6):372-5. doi: 10.3928/0191-3913-19971101-09. PMID: 9430064
Meyers SM, Gutman FA, Kaye LD, Rothner AD
Trans Am Ophthalmol Soc 1995;93:245-52; discussion 252-7. doi: 10.1016/s0002-9394(14)70558-6. PMID: 8719681Free PMC Article

Diagnosis

Gerrie SK, Rajani H, Branson HM, Lyons CJ, Marie E, Frayn CS, Hughes ECM, Navarro OM
Pediatr Radiol 2024 May;54(6):876-896. Epub 2024 Feb 7 doi: 10.1007/s00247-024-05869-w. PMID: 38321238
Bello NR, Pisuchpen P, de Guimarães TAC, Capasso JE, Levin AV
Retin Cases Brief Rep 2023 Nov 1;17(6):714-718. doi: 10.1097/ICB.0000000000001269. PMID: 37903307
Emmanouil B, Wasik M, Charbel Issa P, Halliday D, Parry A, Sharma SM
Ophthalmic Res 2022;65(1):77-85. Epub 2021 Oct 21 doi: 10.1159/000519143. PMID: 34673638
Barzegar M, Poorshiri B, Yousefi L, Raeisi S, Bakhtiary H, Eftekhari Milani A, Ebadi Z
Acta Neurol Belg 2022 Apr;122(2):385-390. Epub 2021 Mar 18 doi: 10.1007/s13760-021-01635-z. PMID: 33738777
Erginoz E, Taskin HE, Cavus GH, Zengin AK
Medicine (Baltimore) 2021 Dec 17;100(50):e27723. doi: 10.1097/MD.0000000000027723. PMID: 34918628Free PMC Article

Therapy

Rajasekaran NM, Horo S, Kuriakose T
Indian J Ophthalmol 2019 Mar;67(3):433-435. doi: 10.4103/ijo.IJO_925_18. PMID: 30777981Free PMC Article
Saito W, Kase S, Ohgami K, Mori S, Ohno S
Acta Ophthalmol 2010 May;88(3):377-80. Epub 2010 Sep 5 doi: 10.1111/j.1755-3768.2008.01331.x. PMID: 18778334
Mennel S, Barbazetto I, Meyer CH, Peter S, Stur M
Ophthalmologica 2007;221(4):216-26. doi: 10.1159/000101922. PMID: 17579286

Prognosis

Emmanouil B, Wasik M, Charbel Issa P, Halliday D, Parry A, Sharma SM
Ophthalmic Res 2022;65(1):77-85. Epub 2021 Oct 21 doi: 10.1159/000519143. PMID: 34673638
Tibussek D, Hübsch S, Berger K, Schaper J, Rosenbaum T, Mayatepek E
Klin Padiatr 2009 Jul-Aug;221(4):247-50. Epub 2009 Jul 23 doi: 10.1055/s-0028-1112155. PMID: 19629903
Avitabile T, Franco L, Reibaldi M, Pulvirenti MA
Can J Ophthalmol 2007 Apr;42(2):318-20. PMID: 17392863
Mullaney PB, Jacquemin C, Abboud E, Karcioglu ZA
J Pediatr Ophthalmol Strabismus 1997 Nov-Dec;34(6):372-5. doi: 10.3928/0191-3913-19971101-09. PMID: 9430064
Zimmer-Galler IE, Robertson DM
Am J Ophthalmol 1995 Mar;119(3):318-24. doi: 10.1016/s0002-9394(14)71174-2. PMID: 7872393

Clinical prediction guides

Bello NR, Pisuchpen P, de Guimarães TAC, Capasso JE, Levin AV
Retin Cases Brief Rep 2023 Nov 1;17(6):714-718. doi: 10.1097/ICB.0000000000001269. PMID: 37903307
Emmanouil B, Wasik M, Charbel Issa P, Halliday D, Parry A, Sharma SM
Ophthalmic Res 2022;65(1):77-85. Epub 2021 Oct 21 doi: 10.1159/000519143. PMID: 34673638
Erginoz E, Taskin HE, Cavus GH, Zengin AK
Medicine (Baltimore) 2021 Dec 17;100(50):e27723. doi: 10.1097/MD.0000000000027723. PMID: 34918628Free PMC Article
Vasudevan B, Sawhney MP, Radhakrishnan S, Shilpa G
Indian J Dermatol Venereol Leprol 2007 Nov-Dec;73(6):412-4. doi: 10.4103/0378-6323.37061. PMID: 18032862
Mennel S, Meyer CH, Peter S, Schmidt JC, Kroll P
Acta Ophthalmol Scand 2007 Mar;85(2):127-32. doi: 10.1111/j.1600-0420.2006.00781.x. PMID: 17305725

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