5 research outputs found
Unilateral Familial Exudative Vitreoretinopathy: Clinical Profile and Pathology
We report a case of a newborn with unilateral retinal detachment that could not be repaired. At examination under anesthesia, the retina was markedly abnormal and a presumptive diagnosis of retinal dysplasia was made. Several years later, the eye was enucleated because it was blind and painful. Final pathology was consistent with familial exudative vitreoretinopathy (FEVR). The literature describing unilateral retinal dysplasia is sparse. This case adds to the clinical spectrum of pathologic findings in FEVR
Subepithelial conjunctival nevus with atypia: Expanding our understanding of a challenging diagnosis
Equivocal cases of conjunctival subepithelial melanocytic nevus with atypia may on occasion be difficult to distinguish histopathologically and immunohistochemically from melanoma. We describe the clinical presentation and histopathological features of an atypical amelanotic conjunctival nevus, along with its differential diagnosis and pertinent literature review.A 55-year-old Caucasian male presented with an amelanotic epibulbar conjunctival lesion extending onto the cornea, mimicking a pterygium. The histopathological examination of the excision revealed a well-circumscribed subepithelial amelanotic spindle cell melanocytic proliferation with fascicular growth, focal nuclear and cellular enlargement, reverse maturation, less than 1% of cells in cycle, and no mitotic figures. The spindle cells were diffusely immunoreactive to Mart-1, S100, SOX-10, and superficially to MITF and HMB-45. Given the histopathological atypia and ambiguity of stains, the 5-probe fluorescence in situ hybridization NeoSITE (NeoGenomics, Irvine, CA) was performed and found to be normal.The presence of atypia, a sign of pre-malignancy, in amelanotic subepithelial nevi should be suspected, even in cases of presumed pterygia, to ensure that appropriate histopathological evaluation and subsequent management are pursued. Immunohistochemical stains and molecular studies can be crucial in differentiating benign from potentially malignant conjunctival nevi with atypia. Keywords: Conjunctiva, Nevus, Atypia, Melanoma, Histopathology, Immunohistochemistry, Fluorescence in situ hybridizatio
Pathological Confirmation of Optic Neuropathy in Familial Dysautonomia
Clinical data suggest that optic neuropathy and retinal ganglion cell loss are the main cause of visual decline in patients with familial dysautonomia, but this has not previously been confirmed by pathological analyses. We studied retinas and optic nerves in 6 eyes from 3 affected patients obtained at autopsy. Analyses included routine neurohistology and immunohistochemistry for neurofilaments, cytochrome c oxidase (COX), and melanopsin-containing ganglion cells. We observed profound axon loss in the temporal portions of optic nerves with relative preservation in the nasal portions; this correlated with clinical and optical coherence tomography findings in 1 patient. Retinal ganglion cell layers were markedly reduced in the central retina, whereas melanopsin-containing ganglion cells were relatively spared. COX staining was reduced in the temporal portions of the optic nerve indicating reduced mitochondrial density. Axonal swelling with degenerating lysosomes and mitochondria were observed by electron microscopy. These findings support the concept that there is a specific optic neuropathy and retinopathy in patients with familial dysautonomia similar to that seen in other optic neuropathies with mitochondrial dysfunction. This raises the possibility that defective expression of the IkB kinase complex-associated protein (IKAP) resulting from mutations in IKBKAP affects mitochondrial function in the metabolism-dependent retinal parvocellular ganglion cells in this condition
Analysis of Choroidal Morphologic Features and Vasculature in Healthy Eyes Using Spectral-Domain Optical Coherence Tomography
Objective
To analyze the morphologic features and vasculature of the choroid in healthy eyes using spectral-domain (SD) optical coherence tomography (OCT).
Design
Cross-sectional retrospective review.
Participants
Forty-two healthy subjects (42 eyes) with no ocular disease who underwent high-definition scanning with Cirrus high-definition OCT (Carl Zeiss Meditec, Inc., Dublin, CA) at the New England Eye Center, Boston, Massachusetts, between November 2009 and September 2010.
Methods
The SD OCT images were evaluated for morphologic features of the choroid, including the shape of the choroid–scleral border, location of the thickest point of choroid, and regions of focal choroidal thinning. Total choroidal thickness and large choroidal vessel layer thickness were measured by 2 independent observers experienced in analyzing OCT images using the Cirrus linear measurement tool at the fovea, 750 μm nasal and temporal to the fovea. Custom software was used to calculate the ratio of choroidal stroma to the choroidal vessel lumen.
Main Outcome Measures
Qualitative assessment of the choroidal morphologic features, quantitative analysis of choroidal vasculature, and use of novel automated software to determine the ratio of choroidal stromal area to the area of choroidal vessel lumen.
Results
The 42 subjects had a mean age of 51.6 years. All subjects (100%) had a so-called bowl or convex shape to the choroid–sclera junction, and the thickest point of the choroid was under the fovea in 88.0% of the subjects. The mean choroidal thickness was 256.8±75.8 μm, mean thickness of the large choroidal vessel layer was 204.3±65.9 μm, and that of the medium choroidal vessel layer–choriocapillaris layer was 52.9±20.6 μm beneath the fovea. The ratio of large choroidal vessel layer thickness to the total choroidal thickness beneath the fovea was 0.7±0.06. The software-generated ratio of choroidal stromal area to the choroidal vessel lumen area was 0.27±0.08, suggesting that choroidal vessel lumen forms a greater proportion of the choroid than the choroidal stroma in healthy eyes.
Conclusions
This is the first study to describe the morphologic features and vasculature of the choroid in healthy eyes from 1-line raster scans obtained using SD OCT. The method described holds promise and has immediate clinical usefulness in recognizing subtle changes in choroidal morphologic features and the role of choroidal angiopathy in various disease states that, in the future, may inform new treatment methods.Research to Prevent Blindness, Inc. (United States) (Challenge Grant)National Institutes of Health (U.S.) (Grant RO1-EY11289-25)National Institutes of Health (U.S.) (Grant R01-EY13178-10)National Institutes of Health (U.S.) (Grant R01-EY013516-07)National Institutes of Health (U.S.) (Grant R01-EY019029-02)United States. Air Force Office of Scientific Research (Grant FA9550-10-1-0551)United States. Air Force Office of Scientific Research (Grant FA9550-10-1-0063