A5080313567- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Ocular Oncology and Treatments
- Neuroscience and Neural Engineering
- Retinal and Macular Surgery
- EEG and Brain-Computer Interfaces
- Cellular transport and secretion
- Cancer-related Molecular Pathways
- RNA regulation and disease
- Genetic and Kidney Cyst Diseases
- Muscle activation and electromyography studies
- Retinal Imaging and Analysis
- Cancer Genomics and Diagnostics
- Neurological diseases and metabolism
- Wnt/β-catenin signaling in development and cancer
- BRCA gene mutations in cancer
- Cutaneous Melanoma Detection and Management
- Bladder and Urothelial Cancer Treatments
- Ocular Disorders and Treatments
- Chromatin Remodeling and Cancer
- Medical Imaging and Analysis
- Photoreceptor and optogenetics research
- Skin and Cellular Biology Research
- Cerebrovascular and genetic disorders
- Microtubule and mitosis dynamics
Cleveland Eye Clinic
2017-2023
Cleveland Clinic
2017-2023
Roche (United States)
2018
American Orthopaedic Foot and Ankle Society
2018
Background: To present the ophthalmological findings of a mother and son initially diagnosed with benign concentric annular macular dystrophy (BCAMD) later discovered to carry novel nonsense mutation in cone-rod homeobox (CRX) gene (19q13.3).Materials Methods: Patients received ophthalmic examinations diagnostic testing. The proband underwent sequencing 131 retinal genes. His had targeted testing identified sequence variations CRX BBS12 (4q27).Results: (Case I) presented at age 35 years for...
Stargardt macular degeneration (STGD) is a central blinding disease caused by loss of or dysfunctional ABCA4 transporter in both photoreceptors and retinal pigment epithelial (RPE) cells. Toxic bisretinoid-lipofuscin buildup the RPE cells pathological hallmark STGD patients its mouse model, Abca4−/−. These vitamin A-derived fluorophores have been shown to induce oxidative stress, stimulate complement activity, cause chronic inflammation RPE. In vivo modulation regulatory pathway model has...
To describe two methods of measuring Argus II array-retina distance and to correlate electrode stimulation thresholds.
Background Clinical assessment of patients with IRD often includes thorough documentation medical and ocular history in addition to genetics related practices like assessing the family genetic testing. Previous studies have demonstrated counseling needs are not being fully met, but there is a lack literature showing current ophthalmologists optometrists U.S. The goal this study assess provided IRD.Methods Data from 51 survey participants were included analysis. assessed their risk IRD,...
To describe the response to long-term topical dorzolamide treatment in patients with juvenile X-linked retinoschisis and cystic-like foveal lesions.This was a retrospective interventional case series that included 18 eyes of 10 genetically confirmed examined at Cleveland Clinic Cole Eye Institute, tertiary referral center, between 2005 2021. Patients were treated 2% two three times daily both eyes. Two excluded because retinal detachment. Primary outcome measures logarithm minimum angle...
Rachitskaya, Aleksandra V. MD; DeBenedictis, Meghan MS, LCGC, MEd; Yuan, Alex MD, PhD Author Information
Rachitskaya, Aleksandra MD; Lane, Leslie CST; Ehlers, Justis DeBenedictis, Meghan MS, MEd; Yuan, Alex MD, PhDEditor(s): Williams, George A. Author Information
Introduction: Mutations in Kizuna (KIZ), a gene involved ciliary function, have been previously associated with rod-cone dystrophy relative macular sparing and number of other systemic abnormalities.Purpose: We present patient phenotype dominated by retinal cysts as result homozygous nonsense mutation KIZ.Methods: A 32-year-old female Ashkenazi Jewish ancestry presented progressive central vision loss peripheral visual field following decades night-blindness. She was noted to bull's-eye...
Purpose To report on two rare and one novel TULP1 pathogenic variants in patients associated with a previously uncharacterized phenotype of retinal degeneration.Methods Case report.Results A 4 year-old 19 female presented reduced vision bilateral bull's eye maculopathy. In both patients, unique pattern perivascular degeneration was noted. Electroretinography consistent cone-rod dystrophy. Sequence analysis identified the gene c.1087 G > A, p.(Gly363Arg); c.1568 p.(Cys523Tyr); c.821delA,...
<b><i>Background:</i></b> Retinoblastoma (RB) is a potentially heritable childhood cancer that vision- and life-threatening. Assessing the risk of inheriting RB important for structuring ophthalmic genetic screening family members. <b><i>Purpose:</i></b> To create free online application integrates phenotypic, genetic, familial relationships with clinical best practice surveillance guidelines families RB....
Background: Mutations in CEP290 cause autosomal recessive conditions with a wide range of severity and the lack strong genotype-phenotype data makes it difficult to provide accurate prognostic patients families.Methods: A retrospective chart review was conducted on patient clinical diagnosis Senior-Loken Syndrome, molecularly confirmed biallelic nonsense mutations CEP290,and recent finding infertility secondary non-motile sperm.Results: Here we present case long-standing syndrome due...
Background The major facilitator superfamily domain-containing protein 8 (MFSD8) pathogenic variants are classically associated with autosomal recessive neuronal ceroid lipofuscinosis-7. Case reports have recently demonstrated an association of MFSD8 causing macular dystrophy central cone involvement without neurologic sequelae. We report a patient novel ocular phenotype systemic findings.Case presentation A 37-year-old female presented 20-year history progressive bilateral vision loss....
Best vitelliform macular dystrophy is an inherited associated with over 250 pathogenic variants of the Bestrophin-1 ( BEST1 ) gene. Although several types lesions best are well-described, reports phenotypic variations rare genetic limited.
Abstract Purpose To identify and functionally test the causative mutations in BBS2 gene a family presenting with retinitis pigmentosa infertility to generate bbs2 −/− mutant zebrafish. Methods A female proband her male sibling were clinically evaluated genetic testing targeted next-generation sequencing was performed. Mutations verified by Sanger sequencing. Protein localization examined transient expression immunocytochemistry cultured HEK-293T cells. zebrafish generated CRISPR/Cas9 retinal...
Background To report the case of a patient with two distinct genetic systemic diseases – pseudoxanthoma elasticum (PXE) and Usher syndrome confirmed by testing.Materials Methods Single Retrospective Case ReportResults A 36-year-old woman presented acute central vision loss left eye (OS). Fundus exam revealed choroidal neovascularization OS in setting angioid streaks secondary to an underlying diagnosis PXE. Unexpectedly, she also exhibited peripheral bony spicules significant visual field...
Background Sorsby Fundus Dystrophy is an inherited macular degeneration caused by pathogenic variants in the TIMP3 gene. Clinical exam findings typically drusen –like deposits beneath RPE or reticular pseudo above with a majority of patients developing choroidal neovascularization.Materials and Methods Case report two members family that present atypical clinical findings. Protein modeling novel Y137CTIMP3 variant was performed compared other known variants.Results In this study we describe...
Best vitelliform macular dystrophy is an inherited disease of the central retina caused by more than 300 pathogenic variants in BEST1 gene. The phenotype BD variable and there are just a few reports on histopathology eyes from donors with BD. Here, we describe histopathological comparison donor patients p.Asn296His p.Ile201Thr BEST1. Eyes were obtained 85 (donor 1), 65 year-old 2) fixed within 25 hrs postmortem. Perifoveal peripheral retinal regions processed for histology...
Uveal melanoma (UM) and renal cell carcinoma (RCC) can occur sporadically as a manifestation of BAP1 tumor predisposition syndrome. We aimed to understand the prevalence germ line pathogenic variants in patients with UM RCC. reviewed managed at Cleveland Clinic between November 2003 2019 who were diagnosed Charts for demographic cancer-related characteristics. RCC samples tested protein expression using immunohistochemical (IHC) staining, testing was performed part routine clinical care....