Optical coherence tomography angiography in pediatric ocular cutis marmorata telangiectatica congenita: A case series.

Purpose: To report 2 cases of enlarged foveal avascular zone (FAZ) on optical coherence angiography (OCTA) imaging in pediatric patients with cutis marmorata telangiectatica congenita (CMTC). Observations: A 10-week-old female and a 3-year-old male diagnosed with CMTC presented for retinal examination. Both had peripheral avascularity on fluorescein angiography (FA) and enlargement of the FAZ on OCTA in both eyes. Conclusions and Importance: Pediatric patients with CMTC should undergo ocular evaluation with not only FA, but also OCTA to more robustly evaluate the affected retina in this rare disease.

Resolution of Crystalline Retinopathy After Kidney Transplant for Hyperoxaluria.

This case report discusses the evolution of crystalline retinopathy secondary to systemic hyperoxalosis after kidney transplant for hyperoxaluria was performed.

Retinopathy With Variant of Unknown Significance and Atypical Chorioretinal Coloboma in the Setting of Prematurity.

A 37-week-old girl underwent ophthalmic examination. Born at 32 weeks, the infant weighed 680 grams and received high-flow nasal cannula for respiratory distress of the newborn. Dilated fundus examination of the right eye revealed an atypical chorioretinal coloboma; the left eye revealed hyperpigmentary changes in the macula. Fluorescein angiography of both eyes showed retinal vascularization to zone II. Genetic testing revealed a heterozygous variant of uncertain significance in the catenin Alpha 1 (CTNNA1) gene. CTNNA1 gene abnormalities have been implicated as causes of familial exudative vitreoretinopathy (FEVR). It is important to recognize possible simultaneous retinopathy of prematurity and FEVR. [Ophthalmic Surg Lasers Imaging Retina 2024;55:285-288.].

A Case of Bilateral Diffuse Uveal Melanocytic Proliferation in the Setting of Urothelial Carcinoma of the Ureter: A Failed Response to Plasmapheresis.

Bilateral diffuse uveal melanocytic proliferation (BDUMP) is a rare paraneoplastic syndrome. Diagnosis can be difficult and treatment guidelines are ill-defined. A 73-year-old man with poorly differentiated high grade urothelial carcinoma of the ureter metastatic to the liver, lungs, lymph nodes, and pelvis treated with chemotherapy and immunotherapy reported gradual vision loss. Optical coherence tomography (OCT) demonstrated intraretinal and subretinal fluid with hyperreflective subretinal deposits and focal, deeply pigmented choroidal lesions. Irregular hyperpigmentation of the retinal pigment epithelium (RPE) with a "leopard spot" pattern on fundus autofluorescence (FAF) supported the diagnosis of BDUMP. Multiple plasmapheresis sessions did not result in sustained clinical improvement. [Ophthalmic Surg Lasers Imaging Retina 2022;53(6): 350-353.].

Idiopathic Vitreomacular Traction Managed with Initial Observation: Clinical Course and Outcomes.

OBJECTIVE: To review the clinical course and outcomes of patients with idiopathic vitreomacular traction (VMT) managed initially by observation. DESIGN: Retrospective chart review including patients with idiopathic VMT based on clinical symptoms and findings on OCT between January 1, 2015, and February 15, 2021. SUBJECTS: The study included 436 eyes of 317 patients with a mean age of 72.2 years ± 8.9 at initial visit and mean follow-up time of 34 months ± 19.2. METHODS: Vitreomacular traction severity grade was ascribed to each patient using previously published grading criteria. Grade 1 denoted incomplete cortical vitreous separation with attachment at the fovea and visible distortion of the foveal surface. Grade 2 included intraretinal cysts or clefts along with grade 1 findings. Grade 3 included subfoveal fluid along with grade 2 traits. MAIN OUTCOME MEASURES: The rate of spontaneous release, grade at baseline compared with grade at final follow-up, and outcomes of interventions, if performed. RESULTS: At baseline, mean best corrected visual acuity (BCVA) was 20/40. Baseline OCT demonstrated grade 1 VMT in 212 eyes (48.6%), grade 2 VMT in 172 eyes (39.4%), and grade 3 VMT in 52 eyes (11.9%). Among eyes that were initially grade 1, 25.0% had spontaneous release of VMT (median, 290.0 days; mean, 404.5 days ± 323.9), 50.9% remained stable, and 10.4% worsened. Among eyes that were initially grade 2, 14.5% had spontaneous release of VMT (median, 570.0 days; mean, 692.9 days ± 477.5), 55.2% remained stable, 4.7% improved, and 2.3% worsened. Among eyes that were initially grade 3, 5.8% had spontaneous release of VMT (median, 790.0 days; mean, 839.3 days ± 246.7), 28.8% remained stable, and 5.8% improved. Of the 436 eyes, macular hole development occurred in 42 eyes (9.6%). Pars plana vitrectomy was performed in 94 of 436 eyes (21.6%) with mean BCVA before pars plana vitrectomy of 20/78 and final follow-up BCVA of 20/55. CONCLUSION: This study demonstrates the generally stable clinical course of VMT when managed initially by observation. Stable VMT grade was the most frequent outcome, and eyes with grade 1 VMT were more likely to undergo spontaneous release than eyes with grade 2 or 3.

Ocular manifestations of Beckwith-Wiedemann syndrome.

Beckwith-Wiedemann syndrome (BWS; OMIM #130650) is a pediatric overgrowth disorder with few known ocular manifestations. We retrospectively reviewed the medical records of patients with BWS evaluated at Bascom Palmer Eye Institute over a 10-year period and identified 5 patients, of whom 4 presented with ocular misalignment and 1 with eye rubbing. Three patients were noted to have strabismus, and 1 patient manifested with significant astigmatism. No patients received surgical intervention.

Vascular analysis as a proxy for mechanostransduction response in an isogenic, irradiated murine model of mandibular distraction osteogenesis.

INTRODUCTION: Head and neck cancer is a debilitating and disfiguring disease. Although numerous treatment options exist, an array of debilitating side effects accompany them, causing physiological and social problems. Distraction osteogenesis (DO) can avoid many of the pathologies of current reconstructive strategies; however, due to the deleterious effects of radiation on bone vascularity, DO is generally ineffective. This makes investigating the effects of radiation on neovasculature during DO and creating quantifiable metrics to gauge the success of future therapies vital. The purpose of this study was to develop a novel isogenic rat model of impaired vasculogenesis of the regenerate mandible in order to determine quantifiable metrics of vascular injury and associated damage. METHODS: Male Lewis rats were divided into two groups: DO only (n=5) AND Radiation Therapy (XRT)+DO (n=7). Afterwards, a distraction device was surgically implanted into the mandible. Finally, they were distracted a total of 5.1mm. Animals were perfused with a radiopaque casting agent concomitant with euthanasia, and subsequently demineralization, microcomputed tomography, and vascular analysis were performed. RESULTS: Vessel volume fraction, vessel thickness, vessel number, and degree of anisotropy were diminished by radiation. Vessel separation was increased by radiation. CONCLUSION: The DO group experienced vigorous vessel formation during distraction and neovascularization with a clear, directional progression, while the XRT/DO group saw weak vessel formation during distraction and neovascularization. Further studies are warranted to more deeply examine the impairments in osteogenic mechanotransductive pathways following radiation in the murine mandible. This isogenic model provides quantifiable metrics for future studies requiring a controlled approach to immunogenicity.