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Pediatric Ophth/Strabismus

Genetic Eye Diseases
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1-20 of 37 results

Diagnosing Familial Exudative Vitreoretinopathy

May 04, 2020

In this 1-Minute Video, Dr. Audina Berrocal offers pearls for diagnosing familial exudative vitreoretinopathy.

1-Minute Video

Comments 0

Views 1749

Novel Capsular Anchor Device for Managing Ectopia Lentis

Apr 15, 2020

Dr. Jacques Houly presents a video of a 7-year-old female patient with Marfan Syndrome and ectopia lentis in the right eye.

Clinical Video

Comments 0

Views 1061

OCT angiography reveals vessel density changes in children with sickle cell

Mar 05, 2020

This prospective, observational case series evaluated the severity of macular vascular changes in children with sickle cell disease.

Editors' Choice

Comments 0

Views 407

Diagnose This: Child with photophobia and VA of 20/100 OU

May 28, 2019

Weekly case challenge

Diagnose This

Comments 0

Views 1205

What Am I Doing Differently in Pediatric Anterior Segment? Genetics of Pediatric Cataracts

Mar 21, 2019

Next-generation sequencing (NGS) techniques have revolutionized the utility of genomics in aiding precise diagnosis and accurate prognosis and treatment of congenital pediatric cataract.

Presentations and Lectures Video

Comments 0

Views 92

Episode 140: Pediatric Retinal Surgery, Gene Therapy and More with Dr. Audina Berrocal

Nov 26, 2018

Jay is joined Dr. Audina Berrocal to cover a myriad of topics including pediatric retinal surgery, gene therapy, staffing fellow surgery and interviewing residency applicants.

Audio

Comments 0

Views 73

External Drainage of an Exudative Retinal Detachment

Nov 08, 2018

Drs. Allen Chiang and Daniel Su demonstrate the repair of an exudative retinal detachment in a young phakic patient.

Clinical Video

Comments 0

Views 2303

Conjunctival Stem Cell Transplantation for Aniridia

Sep 12, 2018

This lecture from Pediatric Ophthalmology 2017 reviews the use of conjunctival stem cell transplantation for aniridia, a rare disorder that affects all parts of the eye and results in iris deformities, foveal hypoplasia, optic nerve hypoplasia, nystagmus, glaucoma, cataracts, and aniridic keratopathy.

Presentations and Lectures Video

Comments 0

Views 191

SD-OCT offers early detection of pediatric sickle cell retinopathy

Jul 25, 2018

This study compares the ability of fundus exams and spectral domain OCT (SD-OCT) to detect retinal changes in children with sickle cell disease (SCD).

Editors' Choice

Comments 0

Views 160

Vitamin A slows progression of retinitis pigmentosa in children

Apr 09, 2018

Findings from this case-control study support the hypothesis that vitamin A can slow loss of cone function in children with common forms of retinitis pigmentosa.

Editors' Choice

Comments 0

Views 3592

Week in review: Heroic dad, anti-VEGF wars, super scanner

Jan 26, 2018

This week, a father creates a brilliant game to help his daughter learn Braille before she goes blind, Novartis and Roche duke it out in Italian courts and a new OCT technology scans the entire eye in unprecedented detail.

Headline

Comments 0

Views 689

Novartis invests $170 million for ex-U.S. rights to Luxturna

Jan 25, 2018

Swiss-based Novartis Pharmaceuticals has acquired rights to commercialize Luxturna—Spark Therapeutics’ gene therapy for inherited retinal dystrophy—outside of the United States.

Headline

Comments 0

Views 731

Leber Congenital Amaurosis

Dec 06, 2017

Leber congenital amaurosis (LCA) manifests itself in the first 6 months of life with significant visual loss and sensory, pendular nystagmus. Visual acuity (VA) in children with LCA varies significantly among patients with differing gene mutations; this variability has led in recent years to some confusion about terminology and the clinical diagnosis of this group of disorders.

Disease Review

Comments 0

Views 4041

Norrie Disease

Nov 20, 2017

Patients with ND present with blindness due to leukocoria caused by immature retinal cell masses (pseudogliomas) and retinal detachments at birth. Treatment strategies include early laser photocoagulation or vitrectomy to prevent retinal detachment.

Disease Review

Comments 0

Views 4410

Down Syndrome (Trisomy 21)

Nov 20, 2017

Significant refractive error is found in approximately 50%-80% of children with Down syndrome, and there is substantial underaccommodation in these patients regardless of refractive error. Patients should be followed annually until age 5 evaluating for refractive errors, strabismus, or other ocular findings.

Disease Review

Comments 0

Views 5981

Leber Congenital Amaurosis

Nov 07, 2017

The case of a 3-year-old boy who was first examined in 2009 to rule out a retinal dystrophy.

Presentations and Lectures Video

Comments 0

Views 224

What the Pediatric Ophthalmologist Needs to Know About Gene Therapy

Nov 07, 2017

A fairly typical case of a child born with an inherited eye disease that ends up being exacerbated by a couple of mutations only discoverable through genetic testing.

Presentations and Lectures Video

Comments 0

Views 60

Syndromic Conditions

Nov 07, 2017

Dr. Marilyn Mets presents 2-year follow-up of a Hispanic child who was first seen at 15 months, demonstrating attempts to assess vision and achieve best vision in this patient with early subluxation of her lenses.

Presentations and Lectures Video

Comments 0

Views 94

Splitting and Transposing Lateral Rectus for Total Third Nerve Palsy

Oct 11, 2017

In this video, a 17-year-old girl presents with wandering eye.

Presentations and Lectures Video

Comments 0

Views 616

Aicardi Syndrome (AIC)

Sep 14, 2017

Aicardi syndrome is a rare neurodevelopmental disorder originally characterized by the triad of infantile spasms, partial or total agenesis of the corpus callosum, and typical lacuna-shaped chorioretinal lesions. In 2005, modified diagnostic criteria were proposed: If 2 classic and at least 2 other major or supporting features were present, the diagnosis would be highly suspected.

Disease Review

Comments 0

Views 3395

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1-20 of 37 results

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