Dokuz yaşındaki kız hasta, sol gözde görme azlığı ve dışa kayma nedeni ile muayene edildi. Görme ışık hissi idi. Ön segment muayenesi normal idi. Funduskopide, makulada klinik olarak retina ve retina pigment epitelinin kombine hamartomu ile uyumlu amelanotik bir kitle mevcuttu. Lezyon B-mod ultrasonografide akustik gölgelenme ve düzensiz sınır gösterdi. Retina ve retina pigment epitelinin kombine hamartomu; fundus otofloresan incelemede izootofloresan, fluorosein anjiyografide erken ve geç fazda izofloresan gösterdi. Retina pigment epitel hiperplazisi görülen bölgeler otofloresan görüntülemede hipootofloresan ve fluorosein anjiyografide hipofloresan idi. Lezyon EDI (enhanced depht imaging) optik koherens tomografide (EDI-OKT) difüz retinal kalınlaşma, retina pigment epitel hiperplazisine bağlı gölgelenme ve fokal vitreoretinal traksiyon gösterdi. Retina ve retina pigment epitelinin kombine hamartomu, nadir görülen benign bir retina lezyonudur. Retinoblastom ile karışabilir. Bu çalışmada, retina ve retina pigment epitelinin kombine hamartomu tanısı konan bir olgunun klinik ve multimodal görüntüleme özellikleri sunulmaktadır.
Anahtar Kelimeler: Hamartom; retina ve retina pigment epiteli; retina; optik koherens tomografi (OKT); fluorosein anjiyografi; ultrasonografi
T A 9 years old girl was examined because of low vision and exotropia in the left eye. Vision was light perception. Anterior segment examination was normal. Funduscopically, there was an amelanotic mass in the macula diagnosed clinically as combined hamartoma of the retina and retinal pigment epitelium. Areas of retinal pigment epitel hyperplasia demonstrated hypoautofluorescence on autoflorescence imaging and hypofluorescence on fluorescein angiography. The lesion demonstrated acoustic hollowness and irreguler borders on B-mode ultrasonography. Combined hamartoma of the retina and retina pigment epithelium showed isoautoflorescence on fundus autoflorescence imaging, and early and late isofluorescence on fluorescein angiography. The lesion demonstrated diffuse retinal thickening, shadowing from retinal pigment epithelial hyperplasia and focal vitreoretinal traction on enhanced depht imaging optic coherence tomography (EDI-OCT). Combined hamartoma of the retina and retina pigment epithelium is a rare benign retinal lesion. It may be misdiagnosed as retinoblastoma. In this study, we present the clinical and multimodal imaging findings of a case diagnosed with combined hamartoma retina and retina pigment epithelium.
Keywords: Hamartoma; retina and retina pigment epithelium; retina; optical coherence tomography (OCT); fluorescein anjiography; ultrasonography
- Gass JD. An unusual hamartoma of the pigment epithelium and retina simulating choroidal melanoma and retinoblastoma. Trans Am Ophthalmol Soc. 1973;71:175-83.[PubMed]
- Schachat AP, Shields JA, Fine SL, Sanborn GE, Weingeist TA, Valenzuela RE, Brucker AJ. Combined hamartomas of the retina and retinal pigment epithelium. Ophthalmology. 1984;91(12):1609-15.[Crossref] [PubMed]
- Caruso J, Miller KB, Pietrantonio JJ. Combined hamartomas of the retina and retinal pigment epithelium. Optom Vis Sci. 1993;70(10):860-2.[Crossref] [PubMed]
- Çankaya C, Doğanay S, Fırat PG. [Combined hamartoma of the retina and retinal pigment epithelium: case report]. Turkiye Klinikleri J Ophthalmol. 2006;15(4):147-9.
- Teke MY, Elgin U, Yüksekkaya P, Özdal P, Şen E, Öztürk F, et al. Clinical and optical coherence tomography characteristics of combined hamartoma of the retina and retinal pigment epithelium. Turk J Ophthalmol. 2013;43:353-7.[Crossref]
- Shields CL, Thangappan A, Hartzell K, Valente P, Pirondini C, Shields JA, et al. Combined hamartoma of the retina and retinal pigment epithelium in 77 consecutive patients visual outcome based on macular versus extramacular tumor location. Ophthalmology. 2008;115(12):2246-52.e3. [Crossref] [PubMed]
- Dedania VS, Ozgonul C, Zacks DN, Besirli CG. Novel classification system for combined hamartoma of the retina and retinal pigment epithelium. Retina. 2018;38(1):12-9. [Crossref] [PubMed]
- McDonald HR, Abrams GW, Bruke JM, Neuwirth J. Clinicopathologic results of vitreous surgery for epiretinal membranes in patients with combined retinal and retinal pigment epithelial hamartomas. Am J Ophthalmol. 1985;15;100(6):806-13.[Crossref] [PubMed]
- Destro M, D'Amico DJ, Gragoudas ES, Brockhurst RJ, Pinnolis MK, Albert DM, et al. Retinal manifestations of neurofibromatosis. Diagnosis and management. Arch Opthalmol. 1991;109(5):662-6.[Crossref] [PubMed]
- Kaye LD, Rothner AD, Beauchamp GR, Meyers SM, Estes ML. Ocular findings associated with neurofibromatosis type II. Ophthalmology. 1992;99(9):1424-9.[Crossref] [PubMed]
- Shields CL, Mashayekhi A, Dai VV, Materin MA, Shields JA. Optical coherence tomographic findings of combined hamartoma of the retina and retinal pigment epithelium in 11 patients. Arch Ophthalmol. 2005;123(12):1746-50.[Crossref] [PubMed]
- Arepalli S, Pellegrini M, Ferenczy SR, Shields CL. Combined hamartoma of the retina and retinal pigment epithelium: findings on enhanced depth imaging optical coherence tomography in eight eyes. Retina. 2014;34(11):2202-7.[Crossref] [PubMed]
- Arrigo A, Corbelli E, Aragona E, Manitto MP, Martina E, Bandello F, et al. Optical coherence tomography and optical coherence tomography angiography evaluation of combined hamartoma of the retina and retinal pigment epithelium. Retina. 2019;39(5):1009-15.[Crossref] [PubMed]
- Gupta R, Pappuru RR, Dave VP, Chhablani J. Choroidal neovascularization associated with combined hamartoma of retina and retinal pigment epithelium: multimodal imaging. Indian J Ophtalmol. 2018;66(12):1866-8.[Crossref] [PubMed] [PMC]
- Durukan HA, Gündoğan FÇ, Hürmeriç V, Mumcuoğlu T, Sobacı G. [Combined hamartoma of the retina and retinal pigment epithelium]. Ret-Vit. 2006;14(2):157-60.
- Shields CL, Schoenberg E, Kocher K, Shukla SY, Kaliki S, Shields JA, et al. Lesions simulating retinoblastoma (pseudoretinoblastoma) in 604 cases: results based on age at presentation. Ophthalmology. 2013;120(2):311-6.[Crossref] [PubMed]
- Brué C, Saitta A, Nicolai M, Mariotti C, Giovannini A. Epiretinal membrane surgery for combined hamartoma of the retina and retinal pigment epithelium: role of multimodal analysis. Clin Ophtalmol. 2013;7:179-84.[Crossref] [PubMed] [PMC]
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