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Bulgarian Review of Ophthalmology

Clinical case of a child with congenital nevuses in the eye fundus

A. Popova


A case of a child with two congenital pigmented nevuses in the fundus of one eye is presented. Diagnostic and differential diagnostics, as well as the risks of impairment of visual functions, are discussed. No evidence of other ocular or general condition findings has been reported. There is a tendency to increase the size of one of the nevuses.

The dynamic tracking of children with congenital pigment changes in the ocular fundus is a necessity and a guarantee both for early and accurate diagnosis as well as for timely prevention of possible complications.


nevus; eye fundus; newborn infant; childhood

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Apte RS, Bressler NM. Foveal congenital hypertrophy of the retinal pigment epithelium in the setting of geographic atrophy from agerelated macular degeneration. Am J Ophthalmol. 2003 Jan;135(1):120-1.

Bittencourt FV, Marghoob AA, Kopf AW, Koenig KL, Bart RS. Large congenital melanocytic naevi and the risk for development of malignant melanoma and neurocutaneous melanosis. Pediatrics 2000; 106 (4): 736-741.

Blair NP, Trempe CL. Hypertrophy of the retinal pigment epithelium associated with Gardner`s syndrome. Am J Ophthalmol 1980;90:661-7.

Buettner H. Congenital hypertrophy of the retinal pigment epithelium. Am J Ophthalmol 1975;79:177-89.

Champion R, Daicker BC. Congenital hypertrophy of the pigment epithelium: light microscopic and ultrastructural fi ndings in young children. Retina 1989;9:44-8.

Chawla R, Temkar S, Sagar P, Venkatesh P. An unusual case of congenital hypertrophy of retinal pigment epithelium with overlying hemorrhages. Indian J Ophthalmol. 2016 Sep;64(9):672-673. doi: 10.4103/0301-4738.194333.

Cohen SY, Quentel G, Guiberteau B, Coscas GJ. Retinal vascular changes in congenital hypertrophy of the retinal pigment epithelium. Ophthalmology. 1993;100:471-4.

Fung AT, Pellegrini M, Shields CL. Congenital hypertrophy of the retinal pigment epithelium: enhanced-depth imaging optical coherence tomography in 18 cases. Ophthalmology. 2014 Jan;121(1):251-6.

Gass JD. Focal congenital anomalies of the retinal pigment epithelium. Eye 1989;3:1-18.

Kaliki S, CL Shields. Choroidal Nevus. AAO, 2015 Focal Points, ISBN 130202015V.

Zaal, L. H., Mooi W. J., Smitt, S. J. H., Van der Horst, C M. Classifi cation of congenital melanocytic naevi and malignant transformation: a review of the literature. British Journal of Plastic Surgery 2004; 57: 707-719.

Kanski, J., B. Bowling. Clinical Ophthalmology. A Systematic Approach. 7th Edition (2011). Elsevier/Saunders. ISBN-13: 978-0702040931; ISBN-10: 0702040932.

Kasner L, Traboulsi EI, Delacruz Z, et al. A histopathologic study of the pigmented fundus lesions in familial adenomatous polyposis. Retina 1992;12:35-42.

Lloyd WC 3rd, Eagle RC Jr, Shields JA. Congenital hypertrophy of the retinal pigment epithelium. Electron microscopic and morphometric observations. Ophthalmology 1990;97:1052-60.

OMIM, Gardner's syndrome or familial colorectal polyposis (Updated January 26th, 2018).

Parker JA, Kalnins VI, Deck JH, et al. Histopathological features of congenital fundus lesions in familial adenomatous polyposis. Can J Ophthalmol 1990;25:159-63.

Parsons, M. A., G. Rennie, P. A. Rundle, S. Dhingra, H. Mudhar, A. D. Singh. Congenital hypertrophy of retinal pigment epithelium: a clinico-pathological case report. Br J Ophthalmol. 2005 Jul; 89(7): 920-921.

Regillo CD, Eagle RC Jr, Shields JA, et al. Histopathologic fi ndings in congenital grouped pigmentation of the retina. Ophthalmology 1993;100:400-5.

Shah SU, Kaliki S, Shields CL et all.Enhanced depth imaging optical coherence tomography of choroidal nevus in 104 cases. Ophthalmology. 2012 May;119(5):1066-72.

Shields CL, Mashayekhi A, Materin MA et all. Optical coherence tomography of choroidal nevus in 120 patients. Retina. 2005 Apr-May; 25(3):243-52.

Shields CL, Furuta M, Mashayekhi A et all. Clinical spectrum of choroidal nevi based on age at presentation in 3422 consecutive eyes. Ophthalmology. 2008 Mar;115(3):546-552.

Shields JA, Eagle RC, Jr, Shields CL, Brown GC, Lally SE. Malignant transformation of congenital hypertrophy of the retinal pigment epithelium. Ophthalmology. 2009;116:2213-6.

Schleicher SM, Lim SJM. Congenital nevi, Review. Int J Dermatol 1995; 34: 825-829.

Swerdlow AJ, English JSC, Qiao Z. The risk of melanoma in patients with congenital naevi. A cohort study. J Am Acad Dermatol 1995; 32: 595-599.

Traboulsi EI, Maumenee IH, Krush AJ, et al. Pigmented ocular fundus lesions in the inherited gastrointestinal polyposis syndromes and in hereditary nonpolyposis colorectal cancer. Ophthalmology 1988;95:964-9.

Traboulsi EI, Murphy SF, de la Cruz ZC, et al. A clinicopathologic study of the eyes in familial adenomatous polyposis with extracolonic manifestations (Gardner`s syndrome). Am J Ophthalmol 1990;110:550-61.

Wirz K, Lee WR, Coaker T. Progressive changes in congenital hypertrophy of the retinal pigment epithelium. Graefes Arch Clin Exp Ophthalmol 1982;219:214-21.

Youhnovska P, Toffoli D, Gauthier D. Congenital hypertrophy of the retinal pigment epithelium complicated by a choroidal neovascular membrane. Digit J Ophthalmol. 2013;19:24-7.

Zaal, L. H. Giant congenital melanocytic naevi: definition, malignant transformation and treatment modalities, 2009, pp. 121. ISBN: 9789090235486.



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A. Popova
Детски очен кабинет 2- Диагностично-консултативен център, УМБАЛ "Александровска", София