A5086803085- Retinal Diseases and Treatments
- Retinal Development and Disorders
- Mitochondrial Function and Pathology
- Ocular Oncology and Treatments
- Metabolism and Genetic Disorders
- Retinal and Macular Surgery
- Otitis Media and Relapsing Polychondritis
- Glaucoma and retinal disorders
- Retinal Imaging and Analysis
- IgG4-Related and Inflammatory Diseases
- Cell Adhesion Molecules Research
- Ocular Disorders and Treatments
- ATP Synthase and ATPases Research
- Intraocular Surgery and Lenses
- Retinal and Optic Conditions
- Autophagy in Disease and Therapy
- Ubiquitin and proteasome pathways
- Evolution and Genetic Dynamics
- Digestive system and related health
- Cancer, Hypoxia, and Metabolism
- Corneal surgery and disorders
- Histiocytic Disorders and Treatments
- interferon and immune responses
- Genetics, Aging, and Longevity in Model Organisms
- Pancreatic function and diabetes
University of Washington
2019-2023
Duke University
2023
Thomas Jefferson University
2017-2018
Children's Hospital of Philadelphia
2013-2018
Pediatrics and Genetics
2015
University of Pennsylvania
2013-2014
Whole-exome sequencing and autozygosity mapping studies, independently performed in subjects with defective combined mitochondrial OXPHOS-enzyme deficiencies, identified a total of nine disease-segregating FBXL4 mutations seven unrelated disease families, composed six singletons three siblings. All manifested early-onset lactic acidemia, hypotonia, developmental delay caused by severe encephalomyopathy consistently associated progressive cerebral atrophy variable involvement the white...
Mitochondrial respiratory chain (RC) disease therapies directed at intra-mitochondrial pathology are largely ineffective. Recognizing that RC dysfunction invokes pronounced extra-mitochondrial transcriptional adaptations, particularly involving dysregulated translation, we hypothesized translational dysregulation is itself contributing to the pathophysiology of disease. Here, investigated activities, and effects from direct inhibition, a central regulator (mTORC1) its downstream biological...
Retinitis pigmentosa (RP) is a major cause of blindness that affects 1.5 million people worldwide. Mutations in cyclic nucleotide-gated channel β 1 (CNGB1) approximately 4% autosomal recessive RP. Gene augmentation therapy shows promise for treating inherited retinal degenerations; however, relevant animal models and biomarkers progression patients with RP are needed to assess therapeutic outcomes. Here, we evaluated CNGB1 mutations potential compared human phenotypes those mouse dog the...
Primary mitochondrial respiratory chain (RC) diseases are heterogeneous in etiology and manifestations but collectively impair cellular energy metabolism. Mechanism(s) by which RC dysfunction causes global sequelae poorly understood. To identify a common response to disease, integrated gene, pathway, systems biology analyses were performed human primary disease skeletal muscle fibroblast transcriptomes. Significant changes evident across diverse complex genetic etiologies that consistent...
Precis: Steroid response after cataract surgery was more frequent in glaucoma patients than nonglaucoma patients. Longer axial length and preoperative medications were risk factors for steroid Purpose: The aim to evaluate incidence topical uneventful with without glaucoma. Setting: Academic clinics. Design: This a retrospective review. Participants: Consecutive no prior incisional undergoing between March 2007 September 2016. All routinely received prednisolone acetate 1% postoperatively....
Background/Aims: Pigmentary retinal dystrophy and macular have been previously reported in Heimler syndrome due to mutations PEX1. Here we the ocular manifestations PEX6.Materials methods: Medical records were reviewed identify patient demographics, ophthalmic systemic findings, results of diagnostic testing including whole genome sequencing.Results: Patient 1 is 12-year-old boy with a novel mutation c.275T>G (p.Val92Gly) known c.1802G>A (p.Arg601Gln) PEX6. 2 7-year-old girl same another...
Purpose: To describe four pediatric cases in which isolated orbital pseudotumor preceded the development of a systemic inflammatory disease by months to years. Methods: The medical records all patients with clinical diagnosis seen at Ocular Oncology Service Wills Eye Hospital and Northern Virginia Ophthalmology Associates from 2010 2015 were reviewed retrospectively, those associated selected for further study. Data retrospectively collected record review regarding patient demographics...
BACKGROUND AND OBJECTIVE: Knobloch syndrome is a genetic disorder defined by occipital defect, high myopia, and vitreoretinal degeneration. The authors studied retinal changes in patients with using optical coherence tomography (OCT). PATIENTS METHODS: report who received OCT testing during their care from 2011 to 2016. Diagnosis was based on characteristic fundus, scalp or skull abnormalities with/without featureless irides and/or ectopia lentis. When available, diagnosis confirmed the...
This report highlights a case of irreversible bilateral cicatricial keratoconjunctivitis related to dupilumab therapy for the treatment severe atopic dermatitis (AD). After 38 years AD, patient began and achieved disease control. Two into treatment, his ophthalmic examination was significant with foreshortening inferior conjunctival fornices, symblepharon, ankyloblepharon, which persisted even after topical steroid eye drops discontinuation dupilumab. Treating dermatologists should be aware...
Mutations in the ABCA4 gene result a broad spectrum of severe retinal degeneration, including Stargardt macular dystrophy, fundus flavimaculatus, autosomal recessive retinitis pigmentosa, and cone-rod dystrophy. In addition to detection well-characterized mutations, genetic testing frequently yields novel variants unknown significance. The purpose this report is describe an approach aid assessment significance.We 11-year-old girl with disease harboring compound heterozygous deletions...
Background Adjuvant use of laser with systemic chemotherapy for treatment retinoblastoma may reduce recurrence rates while also causing local side effects. Information is lacking on the effect visual outcomes. Methods A retrospective review two centres in United Kingdom was conducted. Patients were included if there a macular tumour at least one eye. Eyes that received alone compared eyes plus adjuvant laser. Results total 76 patients and 91 study. Systemic used 71 20 eyes. Demographic...
Uveal melanoma is the most common primary intraocular malignancy and can occur in choroid, ciliary body, or iris. It often diagnosed based on clinical examination by an ophthalmologist. Nearly all patients present with visual symptoms. Characteristic findings include pigmented pale choroidal masses serous retinal detachments acoustic hollowness seen ocular ultrasonography. CT MRI of orbits are not traditionally utilized for diagnosis uveal melanoma. We 3 cases which was incidental finding...
Purpose. To report a case of postoperative endophthalmitis after combined cataract extraction and iStent inject implantation. Observation. A 70-year-old male with nuclear sclerotic primary open-angle glaucoma underwent an uneventful phacoemulsification implantation intraocular lens trabecular bypass stent. The patient was prescribed regimen ofloxacin 0.3% prednisolone acetate 1%, 1 drop four times day each. On five, he presented to the emergency room for eye pain had 4+ mixed cells in...