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Julia Nemiroff, Tara A. McCannel, Colin A McCannel, Irene Voo; Spectral-domain optical coherence tomography findings in Combined Hamartoma of the Retina and Retinal Pigment Epithelium in 5 consecutive patients. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):5905.
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© ARVO (1962-2015); The Authors (2016-present)
To identify characteristics on Spectral-domain optical coherence tomography (SD-OCT) that contribute to the diagnosis of Combined Hamartoma of the Retina and retinal pigment epithelium (CHR-RPE).
Retrospective, observational cases series highlighting clinical and spectral domain OCT features of CHR-RPE. Patient demographics, visual acuity, clinical examination findings, ultrasonography and OCT features were reviewed.
There were 5 consecutive patients who had a CHR-RPE which had been imaged with OCT. The mean age of presentation was 50.4 (Range 7-70). In all cases, the tumor was unilateral and unifocal. The presenting symptom was decreased vision in 2 cases and asymptomatic in 3 cases, with only 1 patient experiencing vision less than 20/30. The location of the tumor was in the optic nerve head in 2 cases, the superotemporal vascular arcade in 2 cases, and the macula in 1 case. SD-OCT revealed a posterior vitreous detachment present in 3/5 cases, an epiretinal membrane in 3/5 cases, and vitreoretinal traction in 4/5 cases. Retinal disorganization was seen in all cases, as well as marked loss of photoreceptor outer segments. 4/5 cases were associated with subretinal or intraretinal fluid. The basal diameter was measured at a mean of 4027.6 micrometers (Range 2461-6216). The height of the lesion was measured as a mean of 806.52 micrometers (Range 511-1127).
This report highlights the OCT characteristics of 5 cases of CHR-RPE. Our mean age of presentation was 50.4, older than previously reported, likely due to our practice’s focus on adult ocular tumors. A prominent epiretinal membrane was associated with all cases that were associated with decreased vision. Our study revealed that retinal disorganization and loss of photoreceptor outer segments are prominent features on SD-OCT. Our findings demonstrate that SD-OCT is a helpful modality in the diagnosis of these tumors, particularly in atypical smaller tumors in a non-peripapillary location.
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