Miriam Garcia Fernandez_SCIENTIFIC POSTER 2015_3


To report the long-term evolution in two cases of combined hamartoma of the retina and retinal pigment epithelium.


A 46-year-old male and a 35-year-old female, diagnosed as having a combined hamartoma of the retina and retinal pigment epithelium, were observed for eleven and four years, respectively. The first one was treated with pars plana vitrectomy due to large associated epiretinal membrane (ERM), and the other patient declined surgery. A complete ocular examination, including determination of Visual Acuity (VA), anterior and posterior biomicroscopy, and optical coherence tomography (OCT), were performed, at intervals of six months during all follow-up period.

Effectiveness / Safety:

Case 1:

At first visit, Best corrected visual acuity (BCVA) in RE was 0.1 (decimal notation), and in left eye (LE), 1.0. Anterior segment examination revealed a bilateral nuclear sclerosis with no further abnormalities. Fundoscopy revealed a hyperpigmentated and elevated peripapillary lesion, with macular involvement and a huge epiretinal membrane over macular and perimacular region. Tortuous and telangiectasic vessels over the lesion were appreciated. Fluorescein angiography (FA) showed hypofluorescence and telangiectasic vessels with diffusion of contrast in the early frames, and hyperfluoresce in late phases, without signs of neither choroidal nor retinal neovascularization. Considering the diagnosis of combined hamartoma of the retina and retinal pigment epithelium, the patient was referred to the Internal Medicine department to rule out any associated diseases. A complete systemic examination was performed, including Magnetic Resonance and contrast CT Scan in order to detect the presence of any neurofibroma. According to the diagnostic criteria, neurofibromatosis was excluded. Due to the important VA impairment and the presence of large ERM, we decided to perform 20-gauge three-port pars plana vitrectomy (PPV) with membrane peeling. Vitreoretinal surgery resulted in an anatomic improvement and VA stabilization at six months postoperatively. Complete ocular examination was performed every six months, showing the lesion to be unchanged. One year after vitrectomy a cataract developed, so the patient underwent phacoemulsification with intraocular lens implantation. Four years later he complained of visual loss, presenting severe macular distortion, and, consequently, decrease in visual acuity in his right eye, and examination revealed a BCVA in RE of hand movement at 1 meter. Funduscopic examination and Optical Coherence Tomography (OCT) (Cirrus SD, Carl Zeiss, Germany) showed the lesion to remain unchanged. OCT also demonstrated severe macular distorsion with areas of significant increase in retinal thickness with intraretinal cysts, associated to severe RPE atrophy, all these contributing to poor visual acuity.

Case 2:

At first visit, BCVA in RE was 1.0 (decimal notation), and in LE 0.4. Anterior segment examination revealed no abnormalities. Fundoscopy showed a hyperpigmentated and elevated macular lesion, with an associated epiretinal membrane. Fluorescein angiography showed hypofluorescence of the lesion and telangiectasic vessels with diffusion of contrast in late phases, similar to the previous case. OCT showed the presence of a continuous line of hyperreflectivity attached to the inner retinal surface corresponding to an ERM, and a hyporreflective space corresponding to a neurosensorial retinal detachmet. OCT also revealed the presence of intraretinal cysts and a foveal defect compatible with a macular pseudohole. The patient declined surgery, therefore a conservative approach with a rigorous follow-up was performed. Four years later the lesion remained unchanged with a visual acuity of 0.3 in her LE.

Contact Details:

Email: migarci@hotmail.es
Cell Phone: +34629853800