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Grouped congenital hypertrophy of retinal pigment epithelium

MedGen UID:
892829
•Concept ID:
C4072989
•
Congenital Abnormality
Synonym: Bear track congenital hypertrophy of retinal pigment epithelium
 
HPO: HP:0030504

Term Hierarchy

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

Recent clinical studies

Etiology

Extensive grouped congenital hypertrophy of the retinal pigment epithelium: A rare association of pigmented and non-pigmented lesions.
Delbarre M, Le HM, Souied E, Froussart-Maille F
J Fr Ophtalmol 2022 Dec;45(10):1228-1229. Epub 2022 Oct 18 doi: 10.1016/j.jfo.2022.05.015. PMID: 36270854
Retinal Vascular Patterns and Capillary Plexus Reflectivity of Intraocular Tumors; an Optical Coherence Tomography Angiography Study.
Gönen B, Hepokur M, Güleser ÜY, Yetik H, Sarıcı AM
Curr Eye Res 2022 Oct;47(10):1424-1435. Epub 2022 Jul 25 doi: 10.1080/02713683.2022.2101666. PMID: 35819078
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
Torpedo maculopathy.
Teitelbaum BA, Hachey DL, Messner LV
J Am Optom Assoc 1997 Jun;68(6):373-6. PMID: 9190137

Diagnosis

Retinal Vascular Patterns and Capillary Plexus Reflectivity of Intraocular Tumors; an Optical Coherence Tomography Angiography Study.
Gönen B, Hepokur M, Güleser ÜY, Yetik H, Sarıcı AM
Curr Eye Res 2022 Oct;47(10):1424-1435. Epub 2022 Jul 25 doi: 10.1080/02713683.2022.2101666. PMID: 35819078
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
Peripheral Pigmented Retinal Lesions in Stargardt Disease.
Zhao PY, Abalem MF, Nadelman D, Qian CX, Branham K, Schlegel D, Khan N, Heckenlively JR, Jayasundera T
Am J Ophthalmol 2018 Apr;188:104-110. Epub 2017 Dec 27 doi: 10.1016/j.ajo.2017.12.011. PMID: 29288030Free 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
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
Differential occurrence of mutations causative of eye diseases in the Chinese population.
Pang CP, Lam DS
Hum Mutat 2002 Mar;19(3):189-208. doi: 10.1002/humu.10053. PMID: 11857735
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) and familial adenomatous polyposis (FAP).
Rossato M, Rigotti M, Grazia M, Turco AE, Bonomi L
Acta Ophthalmol Scand 1996 Aug;74(4):338-42. doi: 10.1111/j.1600-0420.1996.tb00704.x. PMID: 8883546
Congenital hypertrophy of the retinal pigment epithelium and mandibular osteomata as markers in familial colorectal cancer.
Hunt LM, Robinson MH, Hugkulstone CE, Clarke B, Vernon SA, Gregson RH, Hardcastle JD, Armitage NC
Br J Cancer 1994 Jul;70(1):173-6. doi: 10.1038/bjc.1994.271. PMID: 8018532Free PMC Article
Congenital hypertrophy of retinal pigment epithelium (CHRPE) as a marker for familial adenomatous polyposis (FAP).
Bertario L, Bandello F, Rossetti C, Sala P, Fortini E, Spinelli P, Gennari L, Pietroiusti M, Presciuttini S
Eur J Cancer Prev 1993 Jan;2(1):69-75. doi: 10.1097/00008469-199301000-00011. PMID: 8381318

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
Retinal Vascular Patterns and Capillary Plexus Reflectivity of Intraocular Tumors; an Optical Coherence Tomography Angiography Study.
Gönen B, Hepokur M, Güleser ÜY, Yetik H, Sarıcı AM
Curr Eye Res 2022 Oct;47(10):1424-1435. Epub 2022 Jul 25 doi: 10.1080/02713683.2022.2101666. PMID: 35819078
A unique presentation of grouped congenital hypertrophy of the retinal pigment epithelium.
Turell ME, Leonardy NJ, Singh AD
Ophthalmic Genet 2011 Sep;32(3):162-4. Epub 2011 Mar 22 doi: 10.3109/13816810.2011.562956. PMID: 21425957
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
Focal congenital anomalies of the retinal pigment epithelium.
Gass JD
Eye (Lond) 1989;3 ( Pt 1):1-18. doi: 10.1038/eye.1989.2. PMID: 2591592

Recent systematic reviews

Grouped congenital hypertrophy of the retinal pigment epithelium follows developmental patterns of pigmentary mosaicism.
Meyer CH, Rodrigues EB, Mennel S, Schmidt JC, Kroll P
Ophthalmology 2005 May;112(5):841-7. doi: 10.1016/j.ophtha.2004.10.051. PMID: 15878064

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