A5072662619- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Photoreceptor and optogenetics research
- Retinal and Optic Conditions
- Glaucoma and retinal disorders
- Connexins and lens biology
- Retinal and Macular Surgery
- Drug-Induced Ocular Toxicity
- Retinal Imaging and Analysis
- Intraocular Surgery and Lenses
- Cellular transport and secretion
- Neurological Complications and Syndromes
- Visual perception and processing mechanisms
- Soft tissue tumors and treatment
- Algebraic structures and combinatorial models
- Heme Oxygenase-1 and Carbon Monoxide
- Gallbladder and Bile Duct Disorders
- Retinopathy of Prematurity Studies
- Metabolism and Genetic Disorders
- Body Image and Dysmorphia Studies
- Vascular Malformations Diagnosis and Treatment
- Facial Nerve Paralysis Treatment and Research
- Pediatric Hepatobiliary Diseases and Treatments
- Genomics, phytochemicals, and oxidative stress
- Vascular Tumors and Angiosarcomas
Columbia University Irving Medical Center
2019-2025
Columbia University
2020-2025
NewYork–Presbyterian Hospital
2019-2023
New York Hospital Queens
2022-2023
SUNY Downstate Health Sciences University
2018-2022
State University of New York
2019-2021
New York Stem Cell Foundation
2021
Presbyterian Hospital
2019
Northwestern University
1993-1995
Atypical Usher syndrome (USH) is poorly defined with a broad clinical spectrum. Here, we characterize the phenotype of disease caused by variants in CEP78, CEP250, ARSG, and ABHD12.Chart review evaluating demographic, clinical, imaging, genetic findings 19 patients from 18 families diagnosis retinal confirmed disease-causing or ABHD12.CEP78-related included sensorineural hearing loss (SNHL) 6/7 demonstrated phenotypic spectrum including: vascular attenuation, pallor optic disc, intraretinal...
Purpose: To describe an accessible method of structure-function correlation using optical coherence tomography (OCT) and virtual reality perimetry (VRP) for patients with retinal disease glaucoma to compare results those conventional Humphrey visual fields (HVF). Methods: Patients a diagnosis involving the central field or macula-involving were recruited. underwent ophthalmic examination followed by OCT imaging, HVF, VRP testing. Both HVF compared scans identify areas abnormality their...
Background Oculodentodigital dysplasia (ODDD) is a rare syndrome that causes constellation of facial, ophthalmic, dental, and limb abnormalities. Variants in the gap junction alpha-1 (GJA1) gene have been described patients with ODDD. Hereby we present ocular manifestations patient recessive ODDD due to novel homozygous frameshift variant GJA1.
Purpose: To document retinal toxicity from nab-paclitaxel and gemcitabine with SBP-101, diethyl dihydroxyhomospermine, a polyamine inhibitor for the treatment of metastatic pancreatic adenocarcinoma. Methods: Observational case report. Results: Two patients ductal adenocarcinoma on SBP-101 were found to have retina pigmentary changes pigment epithelium (RPE) mottling. Spectral domain optical coherence tomography (OCT) showed RPE outer speckled reflectivity in nasal superior macula both eyes....
The purpose of this study was to characterize the phenotypic spectrum ophthalmic findings in patients with Alagille syndrome.We conducted a retrospective, observational, multicenter, on 46 eyes 23 subjects syndrome. We reviewed systemic and ophthalmologic data extracted from medical records, color fundus photography, autofluorescence, optical coherence tomography, visual fields, electrophysiological assessments, molecular genetic findings.Cardiovascular abnormalities were found 83% all cases...
This case report highlights a temporal relationship between the use of glucagon-like peptide-1 receptor (GLP-1) agonist and occurrence central retinal artery occlusion.
Purpose: To describe the phenotype of CLN-associated retinal dystrophy in a subset patients at Columbia University Medical Center, United States, and Hospital das Clínicas de Pernambuco, Brazil, comparison to published literature. Methods: Eleven with confirmed biallelic variants CLN genes were evaluated via dilated fundus examination, clinical imaging, full-field electroretinogram. A thorough literature search was conducted determine previously associated phenotypes. Results: Genetic...
Abstract Retinitis pigmentosa (RP) is described as a bilateral disease with inter-eye symmetry that presents on short-wavelength fundus autofluorescence (SW-AF) imaging hyperautofluorescent (hyperAF) rings an ellipsoid shape and regular borders. Nevertheless, both asymmetry irregular ring morphologies are also observed. In this retrospective study of 168 RP patients, we characterize the degree frequency hyperAF according to mode inheritance disease-causing gene by using SW-AF spectral-domain...
Abstract The primary goal of this study was to expand the description filtering properties Y-cell receptive field, byquantitatively characterizing spatial field’s center-and-surround components as a function adapting light level. A range more than five orders magnitude in retinal illuminance were covered, including vast majority cat’s functional vision. Recordings taken from optic tract fibers Y cells cats under general anesthesia. Sinusoidal gratings and stimulus designed selectively probe...
Abstract Fundus autofluorescence is a valuable imaging tool in the diagnosis of inherited retinal dystrophies. With advent gene therapy and numerous ongoing clinical trials for degenerations, quantifiable reliable outcome measurements continually need to be identified. In this retrospective analysis, normalized non-normalized short-wavelength (SW-AF) near-infrared (NIR-AF) images ten patients with mutations visual cycle (VC) genes nineteen phototransduction (PT) were analyzed. Normalized...
Mutations in the gene RPE65 (OMIM: 180069) are recessively inherited and known to cause Leber congenital amaurosis. Recently, mutation D477G has been identified as a of autosomal dominant retinitis pigmentosa (RP). Variable expressivity this disease reported, carrier individuals can present with mild, nonpenetrant, or, most commonly, severe chorioretinal phenotype that resembles choroideremia. We report case 57-yr-old male who presented our clinic nyctalopia decreasing visual acuity for 1...
Retinitis pigmentosa (RP) is a category of inherited retinal dystrophies that best prognosticated using electroretinography (ERG). In this retrospective cohort study 25 patients with RP, we evaluated the correlation between 30 Hz flicker ERG and structural parameters in retina. Internationally standardized recordings, short-wavelength autofluorescence (SW-AF), spectral domain–optical coherence tomography (SD-OCT) were acquired at two visits least one year apart. Vertical horizontal...
The purpose of this paper was to discuss manifestations primary mitochondrial dysfunctions and whether the retinal pigment epithelium or photoreceptors are preferentially affected.A retrospective analysis performed patients with clinically laboratory confirmed diagnoses maternally inherited diabetes deafness (MIDD) Kearns-Sayre syndrome (KSS). Patients underwent full ophthalmic examination, full-field electroretinogram, multimodal imaging studies, including short-wavelength autofluorescence,...
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Inherited retinal dystrophies describe a heterogeneous group of diseases that lead to the irreversible degeneration rod and cone photoreceptors eventual blindness. Recessive loss-of-function mutations in Tubulin Tyrosine Ligase Like 5 (TTLL5) represent recently described cause inherited cone-rod dystrophy. This study describes unusual phenotypes three patients with autosomal recessive TTLL5. Examination these included funduscopic evaluation, spectral-domain optical coherence tomography,...
Abstract Background Mutations in the Kelch-like protein 7 ( KLHL7) represent a recently described and, to date, poorly characterized etiology of inherited retinal dystrophy. Dominant mutations KLHL7 are cause isolated, non-syndromic retinitis pigmentosa (RP). In contrast, recessive loss-of-function known Crisponi or Bohring-Opitz like cold induced sweating syndrome-3 (BOS-3). this study, phenotype and progression five unrelated patients with mediated autosomal dominant RP (adRP)...
Introduction: Mutations in the cone-rod homeobox ( CRX) gene, a known cause of inherited retinal dystrophy, are characterized by extensive phenotypic heterogeneity. We describe novel presentation rod-cone dystrophy (RCD) phenocopying pigmented paravenous retinochoroidal atrophy associated with mutation CRX. Case description: A 53-year-old man and his 48-year-old brother presented history progressive vision loss nyctalopia. Fundus examination revealed bull’s eye lesion chorioretinal...
"Compressive optic neuropathy with vision loss due to IgG4-related orbital disease." Orbit, 39(6), p. 455