A5070016464- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Ocular Disorders and Treatments
- Intraocular Surgery and Lenses
- Ophthalmology and Eye Disorders
- Glaucoma and retinal disorders
- Ophthalmology and Visual Impairment Studies
- Connexins and lens biology
- Connective tissue disorders research
- Ocular Oncology and Treatments
- Retinal and Optic Conditions
- Retinal and Macular Surgery
- Ocular Diseases and Behçet’s Syndrome
- Mitochondrial Function and Pathology
- Corneal surgery and disorders
- Neurofibromatosis and Schwannoma Cases
- Corneal Surgery and Treatments
- Congenital Ear and Nasal Anomalies
- Retinopathy of Prematurity Studies
- RNA regulation and disease
- melanin and skin pigmentation
- Photoreceptor and optogenetics research
- Biomedical Research and Pathophysiology
- Genomic variations and chromosomal abnormalities
- Genetic and Kidney Cyst Diseases
Cleveland Eye Clinic
2016-2025
Cleveland Clinic
2016-2025
Cleveland Clinic Lerner College of Medicine
2012-2024
Case Western Reserve University
2012-2022
Children's National
1990-2020
Accreditation Council for Graduate Medical Education
2020
Education and Research Institute
2017
Shaker Heights Public Library
2015
Imaging Center
2012
Eye Center
1992-2012
The mechanisms controlling axon guidance are of fundamental importance in understanding brain development. Growing corticospinal and somatosensory axons cross the midline medulla to reach their targets thus form basis contralateral motor control sensory input. projections appeared uncrossed patients with horizontal gaze palsy progressive scoliosis (HGPPS). In affected HGPPS, we identified mutations ROBO3 gene, which shares homology roundabout genes important developing Drosophila, zebrafish,...
Mutations in RPE65, a gene essential to normal operation of the visual (retinoid) cycle, cause childhood blindness known as Leber congenital amaurosis (LCA). Retinal therapy restores vision blind canine and murine models LCA. Gene humans with LCA from RPE65 mutations may also have potential for success but only if retinal photoreceptor layer is intact, early-disease stage-treated animals. Here, we use high-resolution vivo microscopy quantify thickness human disease define relationship...
We examined 134 members of 16 families with Gardner's syndrome for pigmented ocular fundus lesions. Of 41 patients documented syndrome, 37 (90.2 percent) had such The lesions were bilateral in 32 the (78.1 and 2 42 controls (4.8 percent). Twenty (46.5 43 first-degree relatives at 50 percent risk lesions, indicating that they probably inherited abnormal gene. presence multiple (more than four), or both appeared to be a specific (specificity, 0.952) sensitive (sensitivity, 0.780) clinical...
Malattia Leventinese (ML), an inherited macular degenerative disease, is closely reminiscent of age-related degeneration (AMD), the most common cause incurable blindness. Both ML and AMD are characterized by extracellular deposits known as drusen between retinal pigment epithelium (RPE) Bruch's membrane. The mechanism underlying formation unknown. An Arg to Trp mutation in a gene unknown function, EFEMP1, responsible for ML, indicating EFEMP1 may be important formation. Here, we show that...
To investigate the genetic basis of autosomal dominant vitreoretinochoroidopathy (ADVIRC), a rare, inherited retinal dystrophy that may be associated with defects ocular development, including nanophthalmos.A combination linkage analysis and DNA sequencing in five families was used to identify disease-causing mutations VMD2. The effect these on splicing assessed using minigene system.Three pathogenic sequence alterations VMD2 were identified nanophthalmos ADVIRC. All sequences showed...
Nanophthalmos is a rare disorder of eye development characterized by extreme hyperopia (farsightedness), with refractive error in the range +8.00 to +25.00 diopters. Because cornea and lens are normal size shape, occurs because insufficient growth along visual axis places these lensing components too close retina. Nanophthalmic eyes show considerable thickening both choroidal vascular bed scleral coat, which provide nutritive structural support for Thickening tissues general feature axial...
Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are inherited retinal diseases that cause early onset severe visual impairment. An accurate molecular diagnosis can refine the clinical allow gene specific treatments.We developed a capture panel enriches exonic DNA of 163 known disease genes. Using this panel, we performed targeted next generation sequencing (NGS) for large cohort 179 unrelated prescreened patients with LCA or RP. Systematic NGS data analysis, Sanger...
<h3>Objective</h3> To describe the choroidal characteristics of patients with retinitis pigmentosa (RP) using enhanced depth imaging (EDI) and spectral domain (SD) optical coherence tomography (OCT). <h3>Purpose</h3> investigate spectral-domain ocular features choroid in RP EDI. <h3>Methods</h3> A prospective, case–control study 21 from Cole Eye Institute imaged Spectralis OCT an EDI protocol. Submacular thickness measurements were obtained beneath fovea at 500 µm intervals for 2.5 mm nasal...
Autosomal recessive and autosomal dominant forms of Weill-Marchesani syndrome, an inherited connective tissue disorder, are caused by mutations in ADAMTS10 (encoding a secreted metalloprotease) FBN1 fibrillin-1, which microfibrils), respectively, yet they clinically indistinguishable. This genetic connection prompted investigation potential functional relationship between fibrillin-1. Specifically, fibrillin-1 was investigated as binding partner substrate, the role influencing microfibril...
Retinal detachment with avascularity of the peripheral retina, typically associated familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal dysplasia (MLCRD) as well dysplasia, mental retardation (CDMMR). Ophthalmologists should be aware range presentations for KIF11 because phenotypic distinction between FEVR MLCRD/CDMMR portends management implications patients these conditions.To...
Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal abnormalities, and cognitive impairment for which 15 causative genes have been identified. Here we present the results of mutational analysis our multiethnic cohort 83 families (105 cases); 75.9% them their mutations identified including 26 novel changes. Comprehensive phenotyping these patients demonstrate that spectrum clinical features greater than expected overlapped with other...