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Multiple bilateral congenital hypertrophy of retinal pigment epithelium

MedGen UID:
866792
•Concept ID:
C4021144
•
Congenital Abnormality
Synonym: Multiple bilateral CHRPE
 
HPO: HP:0011529

Definition

Sharply demarcated hyperpigmentation which is congenital. [from HPO]

Term Hierarchy

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

Recent clinical studies

Etiology

Benign Lobular Inner Nuclear Layer Proliferations of the Retina Associated with Congenital Hypertrophy of the Retinal Pigment Epithelium.
Sanfilippo CJ, Javaheri M, Handler S, Berry JL, Cobrinik D, Deardorff MA, Sun M, Schmidt RJ, Barkmeier AJ, Nagiel A
Ophthalmology 2023 Mar;130(3):265-273. Epub 2022 Oct 18 doi: 10.1016/j.ophtha.2022.10.011. PMID: 36270406Free PMC Article
Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP); a polyposis registry experience.
Nusliha A, Dalpatadu U, Amarasinghe B, Chandrasinghe PC, Deen KI
BMC Res Notes 2014 Oct 18;7:734. doi: 10.1186/1756-0500-7-734. PMID: 25326340Free PMC Article
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer.
Chen CS, Phillips KD, Grist S, Bennet G, Craig JE, Muecke JS, Suthers GK
Fam Cancer 2006;5(4):397-404. Epub 2006 Aug 31 doi: 10.1007/s10689-006-0011-y. PMID: 16944273
Congenital hypertrophy of the retinal pigment epithelium associated with familial adenomatous polyposis.
Santos A, Morales L, Hernandez-Quintela E, Jiménez-Sierra JM, Villalobos JJ, Panduro A
Retina 1994;14(1):6-9. doi: 10.1097/00006982-199401000-00002. PMID: 8016465
Pigmented lesions of the retinal pigment epithelium and familial adenomatous polyposis.
Polkinghorne PJ, Ritchie S, Neale K, Schoeppner G, Thomson JP, Jay BS
Eye (Lond) 1990;4 ( Pt 1):216-21. doi: 10.1038/eye.1990.29. PMID: 2157613

Diagnosis

Atypical hypertrophy of retinal pigment epithelium manifesting as the first sign of familial adenomatous polyposis.
Ponces Ramalhão J, Afonso M, Macedo M, Araújo M
BMJ Case Rep 2023 Nov 14;16(11) doi: 10.1136/bcr-2022-254350. PMID: 37963665Free PMC Article
Benign Lobular Inner Nuclear Layer Proliferations of the Retina Associated with Congenital Hypertrophy of the Retinal Pigment Epithelium.
Sanfilippo CJ, Javaheri M, Handler S, Berry JL, Cobrinik D, Deardorff MA, Sun M, Schmidt RJ, Barkmeier AJ, Nagiel A
Ophthalmology 2023 Mar;130(3):265-273. Epub 2022 Oct 18 doi: 10.1016/j.ophtha.2022.10.011. PMID: 36270406Free PMC Article
Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP); a polyposis registry experience.
Nusliha A, Dalpatadu U, Amarasinghe B, Chandrasinghe PC, Deen KI
BMC Res Notes 2014 Oct 18;7:734. doi: 10.1186/1756-0500-7-734. PMID: 25326340Free PMC Article
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer.
Chen CS, Phillips KD, Grist S, Bennet G, Craig JE, Muecke JS, Suthers GK
Fam Cancer 2006;5(4):397-404. Epub 2006 Aug 31 doi: 10.1007/s10689-006-0011-y. PMID: 16944273
Hypertrophy of the retinal pigment epithelium associated with Gardner's syndrome.
Blair NP, Trempe CL
Am J Ophthalmol 1980 Nov;90(5):661-7. doi: 10.1016/s0002-9394(14)75133-5. PMID: 7446647

Prognosis

Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP); a polyposis registry experience.
Nusliha A, Dalpatadu U, Amarasinghe B, Chandrasinghe PC, Deen KI
BMC Res Notes 2014 Oct 18;7:734. doi: 10.1186/1756-0500-7-734. PMID: 25326340Free PMC Article
Assessment of the value of congenital hypertrophy of the retinal pigment epithelium as an ocular marker for familial adenomatous polyposis coli.
Hickey-Dwyer MU, Willoughby CE
Eye (Lond) 1993;7 ( Pt 4):562-4. doi: 10.1038/eye.1993.122. PMID: 8253239
Ocular findings in Turcot syndrome (glioma-polyposis).
Munden PM, Sobol WM, Weingeist TA
Ophthalmology 1991 Jan;98(1):111-4. doi: 10.1016/s0161-6420(91)32354-6. PMID: 1850823

Clinical prediction guides

Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP); a polyposis registry experience.
Nusliha A, Dalpatadu U, Amarasinghe B, Chandrasinghe PC, Deen KI
BMC Res Notes 2014 Oct 18;7:734. doi: 10.1186/1756-0500-7-734. PMID: 25326340Free PMC Article
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer.
Chen CS, Phillips KD, Grist S, Bennet G, Craig JE, Muecke JS, Suthers GK
Fam Cancer 2006;5(4):397-404. Epub 2006 Aug 31 doi: 10.1007/s10689-006-0011-y. PMID: 16944273
Congenital hypertrophy of the retinal pigment epithelium associated with familial adenomatous polyposis.
Santos A, Morales L, Hernandez-Quintela E, Jiménez-Sierra JM, Villalobos JJ, Panduro A
Retina 1994;14(1):6-9. doi: 10.1097/00006982-199401000-00002. PMID: 8016465
Assessment of the value of congenital hypertrophy of the retinal pigment epithelium as an ocular marker for familial adenomatous polyposis coli.
Hickey-Dwyer MU, Willoughby CE
Eye (Lond) 1993;7 ( Pt 4):562-4. doi: 10.1038/eye.1993.122. PMID: 8253239
Hypertrophy of the retinal pigment epithelium associated with Gardner's syndrome.
Blair NP, Trempe CL
Am J Ophthalmol 1980 Nov;90(5):661-7. doi: 10.1016/s0002-9394(14)75133-5. PMID: 7446647

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