Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Trial and Error and Algorithm01:12

Trial and Error and Algorithm

83
A problem-solving strategy is a plan of action used to find a solution. Different strategies have distinct action plans. Trial and error involves trying different solutions until one works. For instance, to fix a broken printer, you might check ink levels, ensure the paper tray isn't jammed, and verify the printer's connection to your laptop. This method can be time-consuming but is commonly used. Thomas Edison, for example, used trial and error to find a suitable filament for the light...
83
Persuasion Strategies01:52

Persuasion Strategies

38.4K
Researchers have tested many persuasion strategies, including the foot-in-the door and the door-in-the-face techniques, in a variety of contexts. Ultimately, the principles are effective in selling products and changing people’s attitude, ideas, and behaviors (Cialdini & Goldstein, 2004).
38.4K
Problem-Solving01:29

Problem-Solving

125
Effective problem-solving consists of two steps: 1. identifying the problem and 2. selecting the appropriate problem-solving strategy (i.e., a plan of action used to find a solution). Humans use four problem-solving strategies:
125
Hindsight Biases01:12

Hindsight Biases

3.4K
Hindsight bias leads you to believe that the event you just experienced was predictable, even though it really wasn’t. In other words, you knew all along that things would turn out the way they did. Can you relate this to the phrase "Hindsight is 20/20" now? 
3.4K
Steps in the Modeling Process01:14

Steps in the Modeling Process

173
Albert Bandura's theory of observational learning identifies four critical processes: attention, retention, motor reproduction, and reinforcement or motivation.
Attention is the first necessary component for observational learning. It involves focusing on what the model is doing and saying. For example, if you decide to take a drawing class to enhance your skills, you need to pay close attention to the instructor's words and hand movements. The characteristics of the model significantly...
173
Reliability and Validity01:29

Reliability and Validity

12.7K
Reliability and validity are two important considerations that must be made with any type of data collection. Reliability refers to the ability to consistently produce a given result. In the context of psychological research, this would mean that any instruments or tools used to collect data do so in consistent, reproducible ways.
12.7K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Cost Analysis of an Outpatient MRI Pathway for Optic Disc Edema: A Time-Driven Activity-Based Costing Approach.

American journal of ophthalmology·2026
Same author

Evaluation for Potential Inequities in Efficacy and Patient Outcomes Following Implementation of a STAT Outpatient Neuroimaging Pathway for Evaluation of Patients with Optic Disc Swelling.

Neuro-ophthalmology (Aeolus Press)·2026
Same author

Clinical features of high intracranial pressure and prevalence of idiopathic intracranial hypertension among patients presenting with spontaneous CSF leaks.

Neurosurgical focus·2026
Same author

Reduction of Preexisting AAV9 Antibody Titers Before Onasemnogene Abeparvovec Administration in Twins With Spinal Muscular Atrophy.

Neurology·2025
Same author

Alternating Bilateral Painful Ophthalmoplegia.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society·2025
Same author

Case report: ocular manifestations of <i>NFIX</i>-associated Malan syndrome.

Ophthalmic genetics·2025

Related Experiment Video

Updated: May 27, 2025

Acquisition of a High-precision Skilled Forelimb Reaching Task in Rats
08:59

Acquisition of a High-precision Skilled Forelimb Reaching Task in Rats

Published on: June 22, 2015

10.2K

If at first you don't succeed, try, try again.

Kambiz Ameli1, Jacqueline M Ihinger2, Michael S Lee1

  • 1Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, MN, USA.

Survey of Ophthalmology
|February 16, 2025
PubMed
Summary

A rare UCHL1 gene variant caused progressive vision loss in a young patient. Genetic reanalysis identified this familial mutation, linking it to optic atrophy and vision deficits.

Keywords:
Dominant optic atrophyHereditary spastic paraplegiaUCHL1

More Related Videos

Problem-Solving Before Instruction PS-I: A Protocol for Assessment and Intervention in Students with Different Abilities
10:26

Problem-Solving Before Instruction PS-I: A Protocol for Assessment and Intervention in Students with Different Abilities

Published on: September 11, 2021

3.9K
Proboscis Extension Response PER Assay in Drosophila
23:42

Proboscis Extension Response PER Assay in Drosophila

Published on: April 29, 2007

30.3K

Related Experiment Videos

Last Updated: May 27, 2025

Acquisition of a High-precision Skilled Forelimb Reaching Task in Rats
08:59

Acquisition of a High-precision Skilled Forelimb Reaching Task in Rats

Published on: June 22, 2015

10.2K
Problem-Solving Before Instruction PS-I: A Protocol for Assessment and Intervention in Students with Different Abilities
10:26

Problem-Solving Before Instruction PS-I: A Protocol for Assessment and Intervention in Students with Different Abilities

Published on: September 11, 2021

3.9K
Proboscis Extension Response PER Assay in Drosophila
23:42

Proboscis Extension Response PER Assay in Drosophila

Published on: April 29, 2007

30.3K

Area of Science:

  • Ophthalmology
  • Genetics
  • Neuroscience

Background:

  • Progressive vision loss, dyschromatopsia, and visual field defects can indicate optic nerve damage.
  • Optic atrophy, particularly in young individuals, necessitates thorough etiological investigation.
  • Genetic factors are increasingly recognized as causes of inherited optic neuropathies.

Purpose of the Study:

  • To identify the genetic cause of unexplained progressive vision loss in a 15-year-old male.
  • To investigate the role of the Ubiquitin C-terminal hydrolase L1 (UCHL1) gene in inherited optic atrophy.
  • To highlight the importance of familial genetic testing and reanalysis of exome data.

Main Methods:

  • Clinical presentation including optical coherence tomography (OCT) for retinal nerve fiber layer assessment.
  • Comprehensive work-up including neuroimaging and extensive genetic testing (exome sequencing).
  • Familial genetic analysis to confirm segregation of the identified variant.

Main Results:

  • Initial extensive work-up, including genetic testing, was negative for acquired bilateral optic atrophy.
  • Reanalysis of exome data after a family member tested positive revealed a pathogenic variant in the UCHL1 gene.
  • The identified UCHL1 variant was confirmed as the cause of the patient's progressive vision loss and optic atrophy.

Conclusions:

  • A pathogenic variant in the UCHL1 gene can cause autosomal dominant optic atrophy presenting in adolescence.
  • Revisiting exome sequencing data in light of family history is crucial for diagnosing rare genetic disorders.
  • This case underscores the genetic heterogeneity of optic neuropathies and the utility of targeted genetic reanalysis.