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

Abstract：

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

journal_name

Int Ophthalmol

journal_title

International ophthalmology

authors

Stavrakas P,Vachtsevanos A,Karakosta E,Kozeis N,Triantafylla M,Tranos P

doi

10.1007/s10792-017-0676-2

subject

Has Abstract

pub_date

2018-10-01 00:00:00

pages

2179-2182

issue

eissn

0165-5701

issn

1573-2630

pii

10.1007/s10792-017-0676-2

journal_volume

pub_type

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