International Ophthalmology

, Volume 38, Issue 5, pp 2179–2182 | Cite as

Full-thickness macular hole associated with congenital simple hamartoma of retinal pigment epithelium (CSHRPE)

  • Panagiotis StavrakasEmail author
  • Athanasios Vachtsevanos
  • Efthymia Karakosta
  • Nikos Kozeis
  • Magdalini Triantafylla
  • Paraschos Tranos
Case Report



To report a unique case of congenital simple hamartoma of retinal pigment epithelium (CSHRPE) associated with full-thickness macular hole (FTMH).


A 14-year-old female with a previous diagnosis of simple hamartoma of retinal pigment epithelium in the left eye presented with a 3-week onset of reduced visual acuity in the same eye. Complete ophthalmological examination with spectral domain ocular coherence tomography (SD-OCT) and autofluorescence imaging was carried out. Results were compared with the last 4-year follow-up data.


On examination, visual acuity in the left eye was counting fingers compared to 20/100 documented in the last follow-up. Fundoscopy revealed a nodular, heavily pigmented, circumscribed foveal mass, with 0.5 mm basal diameter and 1.1 mm thickness corresponding to the simple RPE hamartoma. Although the latter remained unchanged throughout the follow-up period, a new lesion at the inferior edge of the hamartoma was noted. SD-OCT confirmed the presence of a FTMH with no evidence of associated epiretinal membrane, vitreomacular traction or posterior vitreous detachment. After explaining the risks and benefits of vitrectomy for FTMH, the patient declined surgery.


CSHRPE may have associated features such as feeding vessels, retinal surface wrinkling, pigmented vitreous cells, retinal exudation and vitreoretinal adhesion. The case presented herein broadens the clinical spectrum of CSHRPE and emphasizes that despite the benign nature of the lesion, which remains stable without growth, visual loss may occur, attributable to foveal traction and development of FTMH. We postulate that protrusion of the tumor into the vitreous cavity results in tissue stretching and development of anteroposterior and tangential forces which may lead to development of macular hole.


Congenital simple hamartoma of retinal pigment epithelium Full-thickness macular hole Benign tumor of the retina Vitreoretinal traction 


Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


  1. 1.
    Laqua H (1981) Tumors and tumor-like lesions of the retinal pigment epithelium. Ophthalmologica 183(1):34–38CrossRefPubMedCentralGoogle Scholar
  2. 2.
    Gass JD (1989) Focal congenital anomalies of the retinal pigment epithelium. Eye (Lond) 3(Pt 1):1–18CrossRefGoogle Scholar
  3. 3.
    Shields CL, Shields JA, Marr BP, Sperber DE, Gass JD (2003) Congenital simple hamartoma of the retinal pigment epithelium: a study of five cases. Ophthalmology 110(5):1005–1011CrossRefPubMedCentralGoogle Scholar
  4. 4.
    Shields CL, Materin MA, Karatza EC, Shields JA (2004) Optical coherence tomography of congenital simple hamartoma of the retinal pigment epithelium. Retina 24(2):327–328CrossRefPubMedCentralGoogle Scholar
  5. 5.
    Shukla D, Ambatkar S, Jethani J, Kim R (2005) Optical coherence tomography in presumed congenital simple hamartoma of the retinal pigment epithelium. Am J Ophthalmol 139(5):945–947CrossRefPubMedCentralGoogle Scholar
  6. 6.
    López JM, Guerrero P (2006) Congenital simple hamartoma of the retinal pigment epithelium: optical coherence tomography and angiography features. Retina 26(6):704–706CrossRefPubMedCentralGoogle Scholar
  7. 7.
    Gotoh M, Yoshikawa H, Kagimoto HT, Ishibashi T (2008) Congenital simple hamartoma of the retinal pigment epithelium in an Asian. Jpn J Ophthalmol 52(2):144–145CrossRefPubMedCentralGoogle Scholar
  8. 8.
    Yannuzzi LA (2010) Congenital simple hamartoma of the retinal pigment epithelium. In: Yanuzzi LA (ed) The retinal atlas. Saunders, Beijing, pp 650–663Google Scholar
  9. 9.
    Teke MY, Ozdal PÇ, Batioglu F, Elgin U, Oztürk F (2012) Congenital simple hamartoma of retinal pigment epithelium: clinical and imaging findings. Case Rep Ophthalmol Med 2012, Article ID 654502. doi: 10.1155/2012/654502 CrossRefGoogle Scholar
  10. 10.
    Shields CL, Manalac J, Das C, Saktanasate J, Shields JA (2015) Review of spectral domain-enhanced depth imaging optical coherence tomography of tumors of the retina and retinal pigment epithelium in children and adults. Indian J Ophthalmol 63(2):128–132CrossRefPubMedCentralGoogle Scholar
  11. 11.
    Smiddy WE, Flynn HW (2004) Pathogenesis of macular holes and therapeutic implications. Am J Ophthalmol 137:525–537CrossRefPubMedCentralGoogle Scholar
  12. 12.
    Steel DH, Lotery AJ (2013) Idiopathic vitreomacular traction and macular hole: a comprehensive review of pathophysiology, diagnosis, and treatment. Eye (Lond) 27(Suppl 1):S1–S21CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media B.V. 2017

Authors and Affiliations

  1. 1.2nd Department of Ophthalmology, National and Kapodistrian University Athens Medical School“Attikon” University General HospitalsAthensGreece
  2. 2.“Ophthalmica” Institute of OphthalmologyThessalonikiGreece

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