Multimodal imaging of white preretinal lesions in atypical familial exudative vitreoretinopathy: Case report and literature review.

Purpose: To report a rare clinical finding of preretinal granules associated with atypical familial exudative vitreoretinopathy (FEVR) and perform a review of the literature. Observations: An asymptomatic 18-year-old male was referred for unilateral peripheral avascular retina evaluation in association with presumed FEVR. He was first noted to have white preretinal granules on fundus examination at five years of age. The lesions remained unchanged over the subsequent years. Genetic testing did not reveal a pathogenic or likely pathogenic variant in a known FEVR gene. A review of the literature revealed five other cases of FEVR with similar findings. Conclusions and Importance: Literature review suggests preretinal granules may present rarely in FEVR. Negative genetic screening of known FEVR genes in our patient with atypical FEVR suggests either a molecularly distinct etiology supporting the rarity of this association with FEVR or, alternatively, the presence of granules in developmental retinal vascular anomalies that are not specific to FEVR. Future study and genetic testing is necessary to better understand the cause of these preretinal granules and the clinical manifestations of FEVR.

Relentless Placoid Chorioretinitis With Branch Retinal Vein Occlusion and Secondary Peripheral Retinal Neovascularization.

Purpose: We report a case of relentless placoid chorioretinitis (RPC) that developed branch retinal vein occlusion and peripheral retinal neovascularization in one eye. Methods: A case report is presented. Results: A 33-year-old healthy man presented with decreased visual acuity (20/150) in both eyes. Slit-lamp examination revealed anterior chamber and vitreous inflammation. Multiple yellow-white lesions were evident in the macula and scattered throughout the fundus. Following workup, a diagnosis of RPC was made. The patient was started on Pred Forte (prednisolone acetate 1%) and atropine drops. Three months later, visual acuity improved to 20/70 and 20/100 in the right and left eyes, respectively. At this time, fundus examination and fluorescein angiography revealed peripheral retinal neovascularization. Sectoral scatter laser photocoagulation was performed in the areas of nonperfusion. Conclusions: We describe a novel presentation of RPC associated with branch retinal vein occlusion and retinal neovascularization. Although the pathophysiology of RPC is believed to be primarily a choroidal vasculitis, retinal vascular changes may also occur, as observed in other white dot syndromes.

Morphological multivariate cluster analysis of murine retinal ganglion cells selectively expressing yellow fluorescent protein.

Optic neuropathies, such as glaucoma, lead to retinal ganglion cell (RGC) death. Transgenic mouse strains that express fluorescent proteins under the control of the Thy1 promoter have permitted single RGC imaging. Specifically, in one strain of mice expressing yellow fluorescent protein (Thy1-YFP), fluorescence is expressed in only 0.2% of RGCs. This reduced expression allows visualization of the full dendritic arbour of YFP-expressing RGCs, facilitating the investigation of structural changes. As susceptibility amongst RGCs varies with morphology and subtype, labelling methods should ideally non-discriminately label RGCs to accurately determine the effects of experimental glaucoma. This study therefore sought to determine morphological subtypes of RGCs in the Thy1-YFP mouse strain. Retinas from Thy1-YFP mice were imaged ex vivo with fluorescence microscopy. With Sholl analysis, a technique for quantifying the morphology of individual neurons, the dendritic field (DF), area under the curve (AUC), normalized AUC (Nav), peak number of intersections (PNI), and skew for single RGCs were computed. The distance of the RGC from the optic nerve head (dONH) was also measured. These morphological parameters were inputted into a multivariate cluster analysis to determine the optimal number of clusters to group all RGCs analyzed, which were then grouped into "Small", "Medium", and "Large" sized cluster groups according to increasing DF size. A total of 178 RGCs from 10 retinas of 8 mice were analyzed from which the cluster analysis identified 13 clusters. Eighty-eight (49%), 77 (43.2%), and 13 (7.3%) RGCs were grouped into small, medium and large clusters, respectively. Clusters 1-6 had small DFs. Clusters 1 and 3 had the lowest AUC and Nav. Clusters 2, 3, and 5 had asymmetric DFs while Clusters 3, 5, and 6 were distal to the ONH. Clusters 7-11 had medium DFs; of these, Clusters 7 and 10 had the lowest AUC, Clusters 8 and 10 had the highest skew, and Clusters 7 and 11 were closest to the ONH. Clusters 12 and 13 had large DFs. Both had low skew and high AUC. High PNI and dONH distinguished Cluster 12 from Cluster 13. We present the largest study to date examining YFP expression in RGCs of transgenic Thy1-YFP mice. Among the 13 clusters, there was a wide range of morphological features with further variation within size categories. Our findings support the notion that YFP is expressed non-discriminatingly in RGCs of Thy1-YFP transgenic mice and this strain is a valuable tool for studies of experimental optic neuropathies.

NOVEL PATIENT POSITIONING APPARATUS FOR RETINAL SURGERY IN A CASE OF SEVERE KYPHOSIS.

PURPOSE: To describe a novel patient positioning apparatus for intraocular surgery capable of accommodating patients with thoracic kyphosis. METHODS: Case report. RESULTS: A 60-year-old man presented with a macula-off retinal detachment and severe ankylosing spondylitis. The patient was scheduled for combined pars plana vitrectomy and scleral buckle. Because of the patient's severe kyphosis, a custom-designed positioning apparatus was built. The setup involved a canvas with 10 sewn-on straps and a Skytron operating table with strap inserts. Padding and blankets were also used to secure the patient comfortably in the Trendelenburg position. Surgery was uncomplicated and retinal detachment repair was successfully performed. CONCLUSION: To the authors' knowledge, this is the first report detailing a vest-like support apparatus for patients with thoracic kyphosis used in vitreoretinal surgery. This apparatus can be prepared using any conventional operating table, and it offers an effective approach to intraocular surgery for patients who cannot lie flat.

Outcome of Wilms tumor patients with bone metastasis enrolled on National Wilms Tumor Studies 1-5: A report from the Children's Oncology Group.

BACKGROUND: Wilms tumor (WT) is the most common renal tumor in children. We describe the outcomes for patients with WT that metastasized to bone (WTBM) to assist in decision making for these uncommon patients. PROCEDURE: We retrospectively reviewed the research records of patients identified with WTBM from the National Wilms Tumor Study (NWTS 1-5) database. We then related overall survival (OS) to histology, chemotherapy, radiation therapy to bone, location of metastasis, and when bone metastasis presented. RESULTS: Thirty-eight of 8609 patients enrolled on NWTS 1-5 (0.44%) developed bone metastasis. Bone metastasis most commonly first occurred at progression or relapse (29/38, 76%). Five of thirty-eight survived (13%) with the 5-year OS following presentation of bone metastasis of 14.3% (95% CI: 2.7-25.8%). The primary cause of death was tumor (29/33, 88%). Of those who died, the median survival time was 10.9 months (range 0.49-61.4). Four of nine (44%) patients presenting at diagnosis and 3% (1/29) of patients presenting in progression or relapse survived (P = 0.0075). Nineteen percent (5/26) of patients with favorable histology and 0% (0/12) with anaplastic histology survived (P = 0.16). Of the five survivors, median follow-up was 14 years (range 6.7-23.8). Radiation to metastatic bone sites was recorded in three of five survivors. No consistent chemotherapeutic approach appeared to be associated with disease outcome. CONCLUSION: Bone metastasis is rare in patients with WT, occurring more commonly in progression or relapse than at initial diagnosis. Patients with WTBM have poor prognosis. We could not identify a consistent chemotherapeutic strategy associated with survival.

Inner, outer, and full-thickness retinal folds after rhegmatogenous retinal detachment repair: A review.

Partial-thickness folds of the inner retina and outer retina, as well as full-thickness retinal folds, may occur after the repair of rhegmatogenous retinal detachment. Although these can look similar on clinical examination, imaging with optical coherence tomography facilitates differentiation. With optical coherence tomography analysis, inner retinal folds exhibit corrugations of the inner retina while outer retinal folds display hyperreflective lesions located just above the retinal pigment epithelium that may extend into the outer nuclear layer. In the case of a classic full-thickness retinal fold, all layers of the neurosensory retina may separate together from the retinal pigment epithelium with retinal reduplication and base-to-base photoreceptor orientation. We review the pathogenesis, risk factors, prevention, and management options of retinal folds. As the terminology for retinal folds is diverse, we highlight optical coherence tomography-based descriptions for retinal folds that have been used in the literature. Factors predicting visual recovery, mechanisms of spontaneous fold regression, and the effect of internal limiting membrane peeling on the incidence of folds are potential areas of future study.