A5072129197- Ocular Oncology and Treatments
- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Ocular Diseases and Behçet’s Syndrome
- Glaucoma and retinal disorders
- Retinal and Macular Surgery
- Drug-Induced Ocular Toxicity
- Glioma Diagnosis and Treatment
- CNS Lymphoma Diagnosis and Treatment
- Ocular Infections and Treatments
- Cutaneous Melanoma Detection and Management
- Neurofibromatosis and Schwannoma Cases
- Retinal Imaging and Analysis
- Retinoids in leukemia and cellular processes
- melanin and skin pigmentation
- RNA regulation and disease
- Intraocular Surgery and Lenses
- Vascular Malformations and Hemangiomas
- Optical Coherence Tomography Applications
- Nonmelanoma Skin Cancer Studies
- Echinoderm biology and ecology
- Traumatic Ocular and Foreign Body Injuries
- Vascular Malformations Diagnosis and Treatment
- Retinal and Optic Conditions
- Tuberous Sclerosis Complex Research
University of Iowa
2016-2024
University of Iowa Hospitals and Clinics
2017-2024
Cleveland Eye Clinic
2018-2023
Cleveland Clinic
2018-2023
The Ohio State University Wexner Medical Center
2013-2019
The University of Texas Southwestern Medical Center
2019
National Human Genome Research Institute
2019
University of California, Los Angeles
2019
University of Chicago
2019
The Ohio State University
2011-2016
BackgroundRetinoblastoma is the most common intraocular cancer worldwide. There some evidence to suggest that major differences exist in treatment outcomes for children with retinoblastoma from different regions, but these have not been assessed on a global scale. We aimed report 3-year globally and investigate factors associated survival.MethodsWe did prospective cluster-based analysis of treatment-naive patients who were diagnosed between Jan 1, 2017, Dec 31, then treated followed up 3...
Degenerative diseases affecting retinal photoreceptor cells have numerous etiologies and clinical presentations. We clinically molecularly studied the retina of a 70-year-old patient with degeneration attributed to autoimmune retinopathy. The was followed for 19 years progressive peripheral visual field loss pigmentary changes. Single-cell RNA sequencing performed on foveal from this four control patients, cell-specific gene expression differences were identified between healthy degenerating...
PurposeTo investigate the distribution of genotypes and natural history ABCA4-associated retinal disease in a large cohort patients seen at single institution.DesignRetrospective, single-institution review.ParticipantsPatients University Iowa between November 1986 August 2022 clinically suspected to have caused by sequence variations ABCA4.MethodsDNA samples from participants were subjected tiered testing strategy progressing allele-specific screening whole genome sequencing. Charts...
Background: To evaluate the prevalence of BAP1 germline mutations in a series young patients with uveal melanoma (UM), diagnosed before age 30.Materials and Methods: The study was carried out on 14 (average 21.4 years, range 3 months to 29 years). Germline DNA extracted from peripheral blood. sequencing using direct all exons adjacent intronic sequences. We also tested for additional melanoma-associated candidate genes CDKN2A CDK4 (exon 4).Results: identified one patient pathogenic mutation...
<h3>Objective</h3> To identify the genetic cause of autosomal dominant spinocerebellar ataxia and retinitis pigmentosa in a large extended pedigree. <h3>Methods</h3> Clinical studies were done at 4 referral centers. Ten individuals same family participated least portion study. Records obtained from an 11th, deceased, individual. Neurologic dermatological examinations performed. Ophthalmologic evaluation including funduscopic examination some cases ocular coherence tomography used to presence...
Molecular prognostication provides clinically applicable prognostic information for patients with uveal melanoma. Most ocular oncologists recommend intensive metastatic surveillance high-risk tumours. However, socioeconomic variables may limit a patient's ability to adhere recommended surveillance. We aim analyse data from melanoma who underwent molecular determine which influence adherence.This was retrospective review of 107 consecutive were diagnosed and treated January 2014 June 2015....
Background/aims Survival after diagnosis of metastasis from uveal melanoma is poor. Identifying individuals at high risk for and developing adjuvant therapy to prevent clinically apparent could improve survival. We conducted an trial sequential, low-dose dacarbazine (DTIC) interferon-alpha-2b (IFN-α−2b) in patients with cytogenetic high-risk melanoma. Methods Patients diagnosed iris, ciliary body or choroidal tumour cytogenetics (monosomy 3) were offered treatment DTIC IFN-α−2b following...
CMT2A2 is associated with mutations in the mitofusin 2 gene, which encodes a protein involved mitochondrial fusion. Ethambutol an antimycobacterial agent toxic optic neuropathies. Ethambutol-induced neuropathy occurs patients related fusion OPA1, responsible for autosomal dominant atrophy.We describe patient (MFN2 mutation: T669G, F223L) who developed accelerated weakness, vocal cord paralysis, and atrophy after receiving ethambutol.Deterioration began within months of initiating ethambutol...
Patients with choroidal melanoma treated brachytherapy lose vision over time due to radiation retinopathy and optic neuropathy. Newer imaging modalities such as optical coherence tomography angiography (OCT-A) may provide further insight into the ultrastructural vascular changes that occur time. We studied progressive OCT-A derived reduction in capillary density occurred macula juxtapapillary region of a patient plaque for posterior uveal melanoma.
Abstract Background To determine whether reductions in retinal and choroidal blood flow measured by laser speckle flowgraphy are detected after 125 I-plaque brachytherapy for uveal melanoma. Methods In a cross-sectional study, were using 25 patients treatment with Flow was analyzed the peripapillary region mean blur rate as well entire image area novel superpixel-based method. Relationships between measures determined Spearman correlation. Results Significant decreases observed both vascular...
Abstract Optical coherence tomography (OCT) has become a key method for diagnosing and staging radiation retinopathy, based mainly on the presence of fluid in central macula. A robust retinal layer segmentation is required identification specific layers involved radiation-induced pathology individual eyes over time, order to determine damage driven by injury microvessels inner neurons. Here, we utilized OCT, OCT-angiography, visual field testing, patient-specific dosimetry models analyze...
To describe a rare case of clinically pigmented choroidal schwannoma with extraocular extension in an elderly patient.