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Fundus autofluorescence findings in combined hamartoma of retina and retinal pigment epithelium

Poster Details

First Author: J.Kalliath INDIA

Co Author(s):    D. Shukla                  0   0 0   0 0   0 0   0 0

Abstract Details


To report the findings of fundus autofluorescence (FAF) imaging findings in combined hamartoma of retina and retinal pigment epithelium (CHRRPE).


In spite of assistance from investigations like optical coherence tomography (OCT), fluorescein angiography (FA), the diagnosis of CHRRPE remains essentially clinical. We describe fundus camera-based autofluorescence (FAF) imaging as a new diagnostic aid. The study was conducted in a tertiary eye care centre in India from 2009 to 2012.


This prospective cross-sectional study included seven consecutive patients who presented with the clinical features suggestive of CHRRPE at a tertiary eye care centre between January 2009 and March 2012. The patients were interviewed for clinical and family history, and underwent systemic evaluation by an internist. Ophthalmic evaluation included recording of best-corrected visual acuity (BCVA), intraocular pressure, tumour laterality, location, pigmentation, vascular tortuosity, foveal ectopia, vitreoretinal interface abnormalities, haemorrhage and exudation. Optical coherence tomography (Topcon 3D OCT-1000 version 3.3; Tokyo, Japan) was performed to assess maximal thickness of the lesion, epiretinal membrane, outer retinal attenuation, retinal oedema and subretinal fluid. Fluorescein angiography (FA) was performed in three patients. Finally, we evaluated FAF findings (Zeiss Visupac 450Plus IR, Jena, Germany) in all of these patients.


The mean age was 29.6 years (range, 15-61). None of the patients had any history or clinical findings suggestive of ocular trauma, intraocular surgery, uveitis or neurofibromatosis. Family history and systemic examination was unremarkable in all patients. BCVA ranged from 20/20 to 20/200 (median: 20/120). One patient was asymptomatic; the rest complained of diminution of vision. Anterior segment and intraocular pressure was unremarkable in all patients. On fundus examination, CHRRPE was diagnosed by the classic features of an elevated mass lesion with vitreoretinal surface abnormalities, vascular dragging and subretinal hyperpigmentation in all patients. The lesion was unilateral, solitary, and was located at the posterior pole in all patients, and extended nasally to optic nerve head in three. None of the patients had posterior vitreous detachment, intraretinal haemorrhage or pigment epithelial detachment. On OCT, all patients displayed preretinal gliosis, hyperreflective inner retina with optical shadowing and variable hyporeflectivity of the outer retina, and increased retinal thickness. On autofluorescense imaging, all patients exhibited marked decrease in fundus autofluorescence in the area of CHRRPE. The macular location of CHRRPE resulted in significant exaggeration of the macular hypoautofluorescence. Patients 1, 2 and 5 showed an additional locus of peripapillary/papillary hypoautofluorescence, consistent with tumour location.


Macular hamartoma in young may closely resemble inflammatory or traumatic epimacular membranes (EMM). But the differentiation is critical because unlike EMM, CRRPE responds poorly to vitrectomy. Spectral Domain-OCT did not add much to the time-domain OCT findings in CHRRPE, except that previously described features like retinal disorganization and outer retinal attenuation/shadowing/hyporeflectivity were not uniformly observed, probably due to greater OCT resolution and also these are not specific for CHRRPE; can be mimicked by EMM due to other aetiologies. FAF revealed exaggerated macular hypoautofluorescence which corresponded well with the location of CRRPE, and could be confirmed by comparison with the fellow eye, as all cases were unilateral. On contrast, EMM typically increases FAF. Chronic EMM can occasionally decrease FAF but it occurs as focal spots, not as the diffuse, uniform dark signal observed in CHRRPE. FAF trumped the OCT in both consistency of findings and diagnostic accuracy in this case series. OCT is probably more helpful in surgical decision making than as a diagnostic tool. FAF could detect the hyperpigmentation in CHRRPE in all the seven cases, and speculate that FAF based on confocal scanning laser ophthalmoscopy may be more precise in the diagnosis of CHRRPE.

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