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Solitary congenital hypertrophy of retinal pigment epithelium

MedGen UID:
866793
•Concept ID:
C4021145
•
Congenital Abnormality
Synonyms: Single isolated CHRPE; Single isolated congenital hypertrophy of retinal pigment epithelium
 
HPO: HP:0011528

Definition

Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSolitary congenital hypertrophy of retinal pigment epithelium

Recent clinical studies

Etiology

Peripheral pigmented lesions in ABCA4-associated retinopathy.
Al-Ani HH, Sheck L, Vincent AL
Ophthalmic Genet 2021 Aug;42(4):383-391. Epub 2021 Mar 11 doi: 10.1080/13816810.2021.1897850. PMID: 33706644
Tumors and Related Lesions of the Pigmented Epithelium.
Shields JA, Shields CL
Asia Pac J Ophthalmol (Phila) 2017 Mar-Apr;6(2):215-223. doi: 10.22608/APO.201705. PMID: 28399346
Solitary congenital hypertrophy of the retinal pigment epithelium features by high-definition optical coherence tomography.
Orduña-Azcona J, Gili P, De Manuel-Triantafilo S, Flores-Rodriguez P
Eur J Ophthalmol 2014 Jul-Aug;24(4):566-9. Epub 2013 Dec 20 doi: 10.5301/ejo.5000420. PMID: 24366775
Solitary congenital hypertrophy of the retinal pigment epithelium: clinical features and frequency of enlargement in 330 patients.
Shields CL, Mashayekhi A, Ho T, Cater J, Shields JA
Ophthalmology 2003 Oct;110(10):1968-76. doi: 10.1016/S0161-6420(03)00618-3. PMID: 14522773
Torpedo maculopathy.
Teitelbaum BA, Hachey DL, Messner LV
J Am Optom Assoc 1997 Jun;68(6):373-6. PMID: 9190137

Diagnosis

Simple Congenital Hamartoma of Retinal Pigment Epithelium.
Malik TG
J Coll Physicians Surg Pak 2022 Apr;32(4):S31-S33. doi: 10.29271/jcpsp.2022.Supp1.S31. PMID: 35633004
Concurrent solitary and multifocal congenital hypertrophy of the retinal pigment epithelium in a single eye.
Gopal AD, Kim JM, Shields CL
Indian J Ophthalmol 2020 Jul;68(7):1454. doi: 10.4103/ijo.IJO_2038_19. PMID: 32587193Free PMC Article
Tumors and Related Lesions of the Pigmented Epithelium.
Shields JA, Shields CL
Asia Pac J Ophthalmol (Phila) 2017 Mar-Apr;6(2):215-223. doi: 10.22608/APO.201705. PMID: 28399346
Solitary congenital hypertrophy of the retinal pigment epithelium features by high-definition optical coherence tomography.
Orduña-Azcona J, Gili P, De Manuel-Triantafilo S, Flores-Rodriguez P
Eur J Ophthalmol 2014 Jul-Aug;24(4):566-9. Epub 2013 Dec 20 doi: 10.5301/ejo.5000420. PMID: 24366775
Torpedo maculopathy.
Teitelbaum BA, Hachey DL, Messner LV
J Am Optom Assoc 1997 Jun;68(6):373-6. PMID: 9190137

Prognosis

Value of the congenital hypertrophy of the retinal pigment epithelium in the diagnosis of familial adenomatous polyposis.
Touriño R, Conde-Freire R, Cabezas-Agrícola JM, Rodríguez-Aves T, López-Valladares MJ, Otero-Cepeda JL, Capeans C
Int Ophthalmol 2004 Mar;25(2):101-12. doi: 10.1023/b:inte.0000031739.62559.ac. PMID: 15290889
Retinal astrocytoma associated with hypertrophy of the retinal pigment epithelium: clinical report and follow-up.
Paoli D
Ophthalmologica 1998;212 Suppl 1:71-3. doi: 10.1159/000055431. PMID: 9730757
Fundus changes associated with congenital hypertrophy of the retinal pigment epithelium.
Chamot L, Zografos L, Klainguti G
Am J Ophthalmol 1993 Feb 15;115(2):154-61. doi: 10.1016/s0002-9394(14)73918-2. PMID: 8430724

Clinical prediction guides

Ocular coherence tomography angiography features of congenital hypertrophy of retinal pigment epithelium.
Shanmugam PM, Konana VK, Ramanjulu R, Mishra KCD, Sagar P, Simakurthy S
Indian J Ophthalmol 2019 Apr;67(4):563-566. doi: 10.4103/ijo.IJO_801_18. PMID: 30900602Free PMC Article
Solitary congenital hypertrophy of the retinal pigment epithelium features by high-definition optical coherence tomography.
Orduña-Azcona J, Gili P, De Manuel-Triantafilo S, Flores-Rodriguez P
Eur J Ophthalmol 2014 Jul-Aug;24(4):566-9. Epub 2013 Dec 20 doi: 10.5301/ejo.5000420. PMID: 24366775
Malignant transformation of congenital hypertrophy of the retinal pigment epithelium.
Shields JA, Eagle RC Jr, Shields CL, Brown GC, Lally SE
Ophthalmology 2009 Nov;116(11):2213-6. Epub 2009 Sep 10 doi: 10.1016/j.ophtha.2009.04.048. PMID: 19744732
Value of the congenital hypertrophy of the retinal pigment epithelium in the diagnosis of familial adenomatous polyposis.
Touriño R, Conde-Freire R, Cabezas-Agrícola JM, Rodríguez-Aves T, López-Valladares MJ, Otero-Cepeda JL, Capeans C
Int Ophthalmol 2004 Mar;25(2):101-12. doi: 10.1023/b:inte.0000031739.62559.ac. PMID: 15290889
Solitary congenital hypertrophy of the retinal pigment epithelium: clinical features and frequency of enlargement in 330 patients.
Shields CL, Mashayekhi A, Ho T, Cater J, Shields JA
Ophthalmology 2003 Oct;110(10):1968-76. doi: 10.1016/S0161-6420(03)00618-3. PMID: 14522773

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