Leber's Congenital Amaurosis By: Ashley Beasley Lori Graham Shelly Sumner Phyllus Bryan Steffani Bryant Derricka Jackson.

Slides:

Advertisements

Similar presentations

Advertisements

Eye Care Center at the Southern California College of Optometry MaryAnn Walls Low Vision Center Dr. Becky Kammer, Chief

Dr. Dean Stenehjem, Superintendent

UCL Institute of Ophthalmology Department of Genetics

Stargardt’s Disease Fundus Flavimaculatus

Kendra Farrow, CVRT.  VRTs address the physical, emotional, and social implications of vision loss  Provides counseling and training in NEW skills and.

ACCESSIBILITY TRAINING August 28, 2014 Accessibility Support Team.

By: Austin Schulte & Brendan Logan P. 4. Background/History  Discovered in 1910  The disease is said to have originated in Africa, but it was first.

Treuman Katz Center for Pediatric Bioethics Conference Newborn Screening: The Future Revolution Beth A. Tarini, MD, MS Assistant Professor Child.

Color blindness B y : M a r e i M ü n s t e r, M o l l y S u l l i v a n, a n d A l e x a n d r a O l i v a n.

Macular Degeneration Adult and Juvenile

Retinitis pigmentosa (RP) is a group of inherited diseases that damage the light-sensitive rods and cones located in the retina, the back part of our eyes.

Patients present with night vision problems, which progress to a slow loss of all peripheral vision; central vision is spared the longest.

Presented by Chino Anyanwu Lynn Baudoin Mona L. Bell Emily Diaz Wendy Lewis Kathy Sanders.

Juvenile Macular Degeneration

Stephanie Hunstable, Miranda Williams, Mandy Boyd, Anissa Lara & Cindy Anderson Macular Degeneration Region 11.

CORTICAL VISUAL IMPAIRMENT (CVI) Group presentation Region 10 GROUP A (Lucy Davis, Monica Degrate, Nkeiruka Dike, Mindy Allen.

Glaucoma Region XI “The Hot Splinters”. Definition A group of diseases caused by damage to the optic nerve that can gradually eliminate all sight A group.

Age-Related Macular Degeneration

Color Blindness By Russell Luther. The Basics Color blindness is a very common disorder, and is also known as Color vision Deficiency. Every different.

By Ivy Poon, Diana Jackson, and Annaliese Yostpile

Prader – Willi Syndrome By Ria Gulati & Ami Bulsara Period 4.

1 Testing sensory visual function. 2 types: 1) psychophysical tests 2) electrophysical tests.

CORTICAL VISUAL IMPAIRMENT

Macular Degeneration John Fontenot Bridget Deckard Miriam Rios Brianne Korth Trenton Adkins.

Marfan Syndrome Lydia Auch Block 2.

Student Diversity in Development and Learning.  Student Diversity in Development and Learning “School psychologists have knowledge of individual differences,

Leber’s Congenital Amaurosis

1 Eye and Vision Screening Procedures, Part 5 Department of Blind and Vision Impaired Created by Carmen Valdes & Lisa Shearman.

SPE 516 LA 2b Stephen Atwood, Amy Hitchcock, Niccole Hunter and Elizabeth Watt.

Retinopathy of Prematurity (ROP) Melissa Andrews BME 281 Sec 2.

Stages of Retinopathy of Prematurity 1 Mildly abnormal blood vessel growth. 2 Blood vessel growth is moderately abnormal. 3 Blood vessel growth is.

1. 2 ©2014 MidMichigan Health Clinical References 1. Based on February 10, 2014, presentation at MidMichigan Health by J. Bryan Sexton,

Hemophilia A By Saad Mukaty. Definition of Hemophilia  Hemophilia (A) is a rare disorder in which blood doesn’t clot normally because it lacks important.

Behavioral Approaches for Migraine Headaches Rusty Lozano M.ED, LPC, BCB Director: Center for Biofeedback & Behavior Therapy Beltway Dr Addison,

Manipulating the Genome 6.4. Recombinant DNA genetic information from different organisms can be combined, forming recombinant DNA.

Visual Impairment. Factors Affecting Visual Function and Their Treatment Visual Acuity - ability to see "detail" –Measured using testing distance/letter.

Color Blindness “Color blindness is the inability to see certain colors in the usual way.” By: Alex Murfree.

Chapter Twelve Individuals With Visual Impairments.

Special Populations in College Counseling Lippincott & Lippincott Physical Disabilities Presented by: Karen Cooper Samuel Lopez Allison Subasic.

Chapter Thirteen Individuals With Visual Impairments.

Gene Therapy in Retinitis Pigmentosa (RP) Henry J Kaplan, MD Evans Professor of Ophthalmology Chair, Department of Ophthalmology & Visual Sciences Director,

Retinitis Pigmentosa (RP)

Engaging the Visually Impaired Learner

Alstrom Syndrome A very rare genetic disease with just over 1000 identified cases worldwide By Laura Glass Saskatoon has 3 known cases, with myself teaching.

Functional Vision Endpoints: OCTGT Perspective Samuel B. Barone, M.D. Office of Cellular, Tissue, and Gene Therapies Center for Biologics Evaluation and.

Tay-Sachs Drew Sivertsen. History Tay-Sachs is named after two physicians Warren Tay – was an ophthalmologist who was the first to discover a red dot.

By Maddy Jones, Coby Austin, Ellie Stiller, and Deon Robinson.

By: Alaina Zsampar MARFAN SYNDROME.  Disorder that affects the body’s connective tissues  1896  By French Doctor Antoine Marfan  Observed a five year.

Nikita, Jenna, and Neil Towery.  We believe that the benefits of gene therapy outweigh the risks and losses far too much for clinical trials to cease.

Hemophilia Brandon Vilorio.

3.04 Functions and disorders of the eye

Cone-Rod Dystrophy: a rare disorder of the eye that is usually, but not always, inherited. The cells that receive light stimuli (cone cells and rod cells)

Pedigree Medical Detectives © 2013 Project Lead The Way, Inc.

Copyright © 2017 American Academy of Pediatrics.

Macular Degeneration.

Invest. Ophthalmol. Vis. Sci ;58(2): doi: /iovs Figure Legend:

Dr. Becky Kammer, Chief Eye Care Center at the Southern California College of Optometry MaryAnn Walls Low Vision Center Dr.

Retinitis Pigmentosa Owen Ferrara.

What does this protein make up or do?

Updates in Neuronal Ceroid Lipofuscinosis

Ike Presley American Foundation for the Blind

Updates in Neuronal Ceroid Lipofuscinosis

Retinitis Pigmentosa Course Title : Molecular diagnostic Unit : II

Topic F 3 Gene Therapy.

Fighting blindness: ‘Towards a cure for animals and a cure for humans’

The Future Is Now: Gene Therapy for Inherited Retinal Diseases

Cases of ARMD in Low vision Jasmin modi 9/10/20191.

Fig. 1 Relevance of therapies for treating retinal degeneration and stage of disease. Relevance of therapies for treating retinal degeneration and stage.

Presentation transcript:

Leber's Congenital Amaurosis By: Ashley Beasley Lori Graham Shelly Sumner Phyllus Bryan Steffani Bryant Derricka Jackson

What is it? Inherited Affects rods and cones on the macula Rare Congenital and progressive

How it Affects Vision Signs Symptoms Vision Associated conditions

Diagnosis History Physical findings Electroretinography (ERG) Genetic testing

Treatment No treatment Routine followups Clinical Trials in Gene replacement therapy RPE65

Educational Implications Devices/Aids Community/School Trainings Eccentric Viewing Braille and/or print

Case Study

Yes I Can Award

Brandon and his brother Tandem Biking

Who said I cant surf ?

Brandons headshot for his acting career

Having fun with Grandpa!

Musical

Works Cited Levack, N. (1994) Low vision: A resource guide with adaptations for students with visual impairments, 2nd edition. Austin, TX: The University of Texas. Levack,N. (1994) Functional vision: A practitioners guide to evaluation and intervention. New York, NY: AFB press, American Foundation for the Blind. Region IV Service Center (1994) Program in low vision therapy. Houston, TX: Region IV Service Center. Retina Foundation of the Southwest. (2010) Lebers Congenital Amaurosis. Retrieved from American Association for Pediatric Ophthalmology and Stabismus. (2010) Lebers Congenital Amaurosis. Retrieved from