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C. C. Hester, R. K. Imes, B. J. Lujan, A. D. Fu; Autosomal Dominant Bilateral Combined Hamartoma of the Retina and Retinal Pigment Epithelium or a New Familial Optic Nerve Dysgenesis?. Invest. Ophthalmol. Vis. Sci. 2010;51(13):3546.
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© ARVO (1962-2015); The Authors (2016-present)
To describe the clinical features of a disease process inherited in an autosomal dominant (AD) pattern in which a bilateral fibroglial proliferation emanating from the optic discs is the unifying phenotypic feature.
Three generations of patients with a bilateral fibroglial proliferation over the optic discs were identified. The proband was phenotypically characterized by clinical examination, electrophysiological studies, fundus photography, fluorescein angiography, Stratus (Carl Zeiss Meditec, Inc.) optical coherence tomography (OCT), and Spectralis (Heidelberg Engineering) spectral domain OCT. Gene mutation analysis for neurofibromatosis 2 (NF2), which has been associated with combined hamartoma of the retina and retinal pigment epithelium (CHRRPE), was obtained in the proband. Fundus photography and OCT were obtained in available relatives.
Six family members reported chronic visual loss and four were examined. The proband's clinical examination revealed a massive bilateral fibroglial proliferation over the optic discs and peripapillary area, peripapillary serous retinal detachments associated with retinal pigment epithelium (RPE) hypertrophy, and straightening of the peripapillary retinal vasculature. Fluorescein angiography revealed staining and leakage of the lesions over the optic discs. OCT revealed bilateral hyperreflective masses in the peripapillary region associated with an epiretinal membrane (ERM) and intraretinal edema. Electroretinography displayed diminished cone and rod function. NF2 gene mutation analysis was negative.Examination and OCT of the proband's sister revealed a bilateral fibroglial proliferation involving the optic discs and peripapillary area and minimal RPE disruption without an ERM.Examination of the proband's mother revealed significant but less extensive bilateral fibroglial proliferation involving the optic discs and peripapillary area. Significant RPE disruption and migration were present giving the appearance of bone spiculing.Examination of the proband's niece revealed early signs of fibroglial proliferation over each optic disc.
We have described the first reported cases of bilateral CHRRPE with an AD inheritance pattern in non-NF2 patients or have identified a previously unrecognized disease process in which a bilateral fibroglial proliferation emanating from the optic discs is the unifying phenotypic feature.
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