Congenital hypertrophy of the retinal pigment epithelium (clinical cases)

Cover Page


Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access

Abstract

Congenital hypertrophy of the retinal pigment epithelium is a benign pigmented formation on the globe fundus, which has a characteristic appearance during ophthalmoscopy and is not prone to significant growth as well as malignancy. Nevertheless, one of the forms of congenital hypertrophy of the retinal pigment epithelium is associated with familial adenomatous polyposis, therefore, for timely follow-up examination of patients, it is necessary to know the differential diagnostic criteria of various forms of this disease. The article presents three clinical cases and as well as summarizes information about various forms of congenital hypertrophy of the retinal pigment epithelium.

Full Text

Restricted Access

About the authors

Aleksei A. Suetov

S.N. Fyodorov Eye Microsurgery Federal State Institution, Saint Petersburg Branch; State Scientific Research Test Institute of Military Medicine

Author for correspondence.
Email: ophtalm@mail.ru
ORCID iD: 0000-0002-8670-2964
SPIN-code: 4286-6100

MD, Cand. Sci. (Medicine)

Russian Federation, Saint Petersburg; Saint Petersburg

Taisiia A. Doktorova

S.N. Fyodorov Eye Microsurgery Federal State Institution, Saint Petersburg Branch; North-Western State Medical University named after I.I. Mechnikov

Email: taisiiadok@mail.ru
ORCID iD: 0000-0003-2162-4018
SPIN-code: 8921-9738

MD

Russian Federation, Saint Petersburg; Saint Petersburg

Anastasiya N. Panfilova

Ophthalmological center “Vision”

Email: panfilova@zrenie.spb.ru
ORCID iD: 0000-0002-8191-6090

MD

Russian Federation, Saint Petersburg

Tatyana Yu. Kostritsina

North-Western State Medical University named after I.I. Mechnikov

Email: melodovich@mail.ru
ORCID iD: 0009-0006-1172-5789

MD

Russian Federation, Saint Petersburg

References

  1. Shields JA, Shields CL. Tumors and related lesions of the pigmented epithelium. Asia Pac J Ophthalmol (Phila). 2017;6(2): 215–223. doi: 10.22608/APO.201705
  2. Liu Y, Moore AT. Congenital focal abnormalities of the retina and retinal pigment epithelium. Eye. 2020;34(11):1973–1988. doi: 10.1038/s41433-020-0902-4
  3. Reese AB, Jones IS. Benign melanomas of the retinal pigment epithelium. Am J Ophthalmol. 1956;42(2):207–212. doi: 10.1016/0002-9394(56)90922-9
  4. Buettner H. Congenital hypertrophy of the retinal pigment epithelium (RPE). A nontumorous lesion. Mod Probl Ophthalmol. 1974;12(0):528–535.
  5. Shneor E, Millodot M, Barnard S, et al. Prevalence of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in Israel. Ophthalmic Physiol Opt. 2014;34(3):385–385. doi: 10.1111/opo.12116
  6. Coleman P, Barnard NAS. Congenital hypertrophy of the retinal pigment epithelium: prevalence and ocular features in the optometric population. Ophthalmic Physiol Opt. 2007;27(6):547–555. doi: 10.1111/j.1475-1313.2007.00513.x
  7. Fung AT, Pellegrini M, Shields CL. Congenital hypertrophy of the retinal pigment epithelium. Ophthalmology. 2014;121(1):251–256. doi: 10.1016/j.ophtha.2013.08.016
  8. Buettner H. Congenital hypertrophy of the retinal pigment epithelium. Am J Ophthalmol. 1975;79(2):177–189. doi: 10.1016/0002-9394(75)90069-0
  9. Nishikatsu H, Shiono T. Congenital hypertrophy of the retinal pigment epithelium in the macula. Ophthalmologica. 1996;210(2): 126–128. doi: 10.1159/000310689
  10. Youhnoska P, Toffoli D, Gauthier D. Congenital hypertrophy of the retinal pigment epithelium complicated by a choroidal neovascular membrane. Digit J Ophthalmol. 2013;19(2):24–27. doi: 10.5693/djo.02.2013.01.004
  11. Lloyd WC, Eagle RC, Shields JA, et al. Congenital hypertrophy of the retinal pigment epithelium. Ophthalmology. 1990;97(8): 1052–1060. doi: 10.1016/S0161-6420(90)32464-8
  12. Cherney E. Congenital hypertrophy of the retinal pigment epithelium. Ophthalmol Reports. 2013;6(4):55–59. EDN: RZFIBX doi: 10.17816/OV2013455-59
  13. Parsons MA. Congenital hypertrophy of retinal pigment epithelium: a clinico-pathological case report. Br J Ophthalmol. 2005;89(7):920–921. doi: 10.1136/bjo.2004.061887
  14. Shields CL, Mashayekhi A, Ho T, et al. Solitary congenital hypertrophy of the retinal pigment epithelium: clinical features and frequency of enlargement in 330 patients. Ophthalmology. 2003;110(10):1968–1976. doi: 10.1016/S0161-6420(03)00618-3
  15. Chamot L, Zografos L, Klainguti G. Fundus changes associated with congenital hypertrophy of the retinal pigment epithelium. Am J Ophthalmol. 1993;115(2):154–161. doi: 10.1016/S0002-9394(14)73918-2
  16. Meyer C, Rodrigues E, Mennel S, et al. Grouped congenital hypertrophy of the retinal pigment epithelium follows developmental patterns of pigmentary mosaicism. Ophthalmology. 2005;112(5): 841–847. doi: 10.1016/j.ophtha.2004.10.051
  17. Arana LA. Familial congenital grouped albinotic retinal pigment epithelial spots. Arch Ophthalmol. 2010;128(10):1362–1364. doi: 10.1001/archophthalmol.2010.242
  18. Regillo CD, Eagle RC, Shields JA, et al. Histopathologic findings in congenital grouped pigmentation of the retina. Ophthalmology. 1993;100(3):400–405. doi: 10.1016/S0161-6420(93)31635-0
  19. Delbarre M, Le HM, Souied E, Froussart-Maille F. Extensive grouped congenital hypertrophy of the retinal pigment epithelium: A rare association of pigmented and non-pigmented lesions. J Fr Ophtalmol. 2022;45(10):1228–1229. doi: 10.1016/j.jfo.2022.05.015
  20. Li MM, Dalvin LA, Shields CL. Coexisting white and dark without pressure abnormalities surrounding congenital hypertrophy of the retinal pigment epithelium. J Pediatr Ophthalmol Strabismus. 2019;56:e5–e7. doi: 10.3928/01913913-20181016-02
  21. Bonnet LA, Conway RM, Lim LA. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) as a screening marker for familial adenomatous polyposis (FAP): systematic literature review and screening recommendations. Clin Ophthalmol. 2022;16:765–774. doi: 10.2147/OPTH.S354761
  22. Kasner L, Traboulsi EI, Delacruz Z, Green WR. A histopathologic study of the pigmented fundus lesions in familial adenomatous polyposis. Retina. 1992;12(1):35–42. doi: 10.1097/00006982-199212010-00008
  23. Cherney E. Gardner’s syndrome. Ophthalmol Reports. 2013;6(1):82–83. EDN: QZBMXH doi: 10.17816/OV2013182-83
  24. Orduña-Azcona J, Gili P, De Manuel-Triantafilo S, Flores-Rodriguez P. Solitary congenital hypertrophy of the retinal pigment epithelium features by high-definition optical coherence tomography. Eur J Ophthalmol. 2014;24(4):566–569. doi: 10.5301/ejo.5000420
  25. Francis JH, Sobol EK, Greenberg M, et al. Optical coherence tomography characteristics of the choroid underlying congenital hypertrophy of the retinal pigment epithelium. Ocul Oncol Pathol. 2020;6(4):238–243. doi: 10.1159/000504712
  26. Shanmugam PM, Konana V, Ramanjulu R, et al. Ocular coherence tomography angiography features of congenital hypertrophy of retinal pigment epithelium. Indian J Ophthalmol. 2019;67(4):563–566. doi: 10.4103/ijo.IJO_801_18
  27. Shields CL, Pirondini C, Bianciotto C, et al. Autofluorescence of congenital hypertrophy of the retinal pigment epithelium. Retina. 2007;27(8):1097–100. doi: 10.1097/IAE.0b013e318133a174
  28. van der Torren K, Luyten GPM. Progression of papillomacular congenital hypertrophy of the retinal pigment epithelium associated with impaired visual function. Arch Ophthalmol. 1998;116(2): 256–257. doi: 10.1001/archopht.116.2.256
  29. Venkatesh R, Reddy NG, Pulipaka RS, Pereira A. Rare presentation of choroidal neovascularisation in a case of congenital hypertrophy of retinal pigment epithelium. BMJ Case Rep. 2021;14(9): e244554. doi: 10.1136/bcr-2021-244554
  30. Gün R, Akcay G, Kanar H, Şimşek Ş. From an asymptomatic lesion to a vision-threatening condition: Congenital hypertrophy of the retinal pigment epithelium complicated by choroidal neovascular membrane. Indian J Ophthalmol. 2020;68(10):2288–2290. doi: 10.4103/ijo.IJO_2185_19
  31. Garoon RB, Harbour JW. Congenital hypertrophy of the retinal pigment epithelium presenting with secondary choroidal neovascularization. Ophthalmic Surg Lasers Imaging Retina. 2018;49(4): 276–277. doi: 10.3928/23258160-20180329-12
  32. Shields JA. Adenocarcinoma arising from congenital hypertrophy of retinal pigment epithelium. Arch Ophthalmol. 2001;119(4):597–602. doi: 10.1001/archopht.119.4.597

Supplementary files

Supplementary Files
Action
1. JATS XML
2. Fig. 1. Color fundus photography, fundus autofluorescence and structural OCT scan through the lesion of patient A with solitary congenital hypertrophy of the retinal pigment epithelium (explanations in the text)

Download (320KB)
3. Fig. 2. Color fundus photography (montage) of patient B with multifocal congenital hypertrophy of the retinal pigment epithelium (explanations in the text)

Download (334KB)
4. Fig. 3. Color fundus photography, fundus autofluorescence and structural OCT scan through the lesion of patient B with multifocal congenital hypertrophy of the retinal pigment epithelium (explanations in the text)

Download (306KB)
5. Fig. 4. Color fundus photography and structural OCT scans of patient B with multifocal congenital hypertrophy of the retinal pigment epithelium: in the projection of a pigmented lesion there was lattice degeneration with vitreal traction (a), retinal tear (b) and local neuroepithelium detachment (с)

Download (200KB)
6. Fig. 5. Color fundus photography (а, с), fundus autofluorescence (b) and structural OCT scan (d) through the lesion of patient V with multifocal congenital hypertrophy of the retinal pigment epithelium (white arrows — lesion borders, explanations in the text)

Download (229KB)
7. Fig. 6. Color fundus photography (а, d) and structural OCT scans of patient V: choroidal neovascularization from a focus of multifocal congenital hypertrophy of retinal pigment epithelium (b) and serous neuroepithelial detachment in the fovea (е) before treatment and reduction of neovascular membrane (c) with regression of neuroepithelial detachment (f) 1 month after intravitreal injection of angiogenesis inhibitor

Download (451KB)

Copyright (c) 2024 Eco-Vector



СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
Регистрационный номер и дата принятия решения о регистрации СМИ: серия ПИ № ФС 77-65574 от 04 мая 2016 г.