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 Experiment Videos

Progressive cone dystrophy with deutan genotype and phenotype.

Hendrik P N Scholl1, Jan Kremers, Dorothea Besch

  • 1Department of Ophthalmology, University of Bonn, Ernst-Abbe-Strasse 2, 53127, Bonn, Germany. hendrik.scholl@ukb.uni-bonn.de

Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie
|August 6, 2005
PubMed
Summary

This study investigated a patient with progressive cone dystrophy using specialized electroretinograms (ERGs). Findings indicate the patient

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Adaptation of visual responses in degenerating <i>rd10</i> and healthy mouse retinas during ongoing electrical stimulation.

Frontiers in neuroscience·2026
Same author

Longitudinal Changes of Fundus Autofluorescence and Correlation With Visual Acuity in ABCA4-Associated Stargardt Disease.

Investigative ophthalmology & visual science·2026
Same author

[On the urgency of treating ophthalmic emergencies].

Die Ophthalmologie·2026
Same author

Surgical Approach for the Implantation of a Ring Electrode into the Sulcus in a Phakic Non-human Primate.

Journal of refractive surgery (Thorofare, N.J. : 1995)·2026
Same author

Real-Time Control of a Focus Tunable Lens for Presbyopia Correction Using Ciliary Muscle Biopotentials and Artificial Neural Networks.

Bioengineering (Basel, Switzerland)·2025
Same author

Safety and vision outcomes of subretinal gene supplementation therapy in <i>PDE6A</i>-associated retinitis pigmentosa: a non-randomised controlled trial.

The British journal of ophthalmology·2025

Area of Science:

  • Ophthalmology and Visual Neuroscience
  • Clinical Electrophysiology
  • Medical Genetics

Background:

  • Progressive cone dystrophy is an inherited retinal disease characterized by the degeneration of cone photoreceptors, leading to progressive vision loss.
  • Cone-specific electroretinograms (ERGs) are crucial for assessing the function of long-wavelength-sensitive (L) and middle-wavelength-sensitive (M) cones.
  • Understanding the functional deficits in cone pathways is essential for diagnosing and managing inherited retinal diseases.

Observation:

  • A 65-year-old male with a history of color vision disturbances, reduced visual acuity, and central visual field defects was studied.
  • Large-field and multifocal electroretinograms (ERGs) were employed to specifically assess L- and M-cone pathway function.
  • Genetic analysis of the L- and M-pigment genes was conducted.

Related Experiment Videos

Findings:

  • The patient exhibited normal rod-driven ERG but reduced cone-driven ERG amplitudes, with normal implicit times.
  • Large-field flicker-ERG responses to L-cone modulation were reduced but detectable, while M-cone responses were undetectable.
  • Multifocal ERGs confirmed severely reduced L-cone responses and undetectable M-cone responses, suggesting dichromacy (deuteranopia) and impaired L-cone function.

Implications:

  • The findings suggest a potential coincidence of progressive cone dystrophy and deuteranopia in this patient.
  • While the L/M-pigment gene array is consistent with the deutan phenotype, the cone dystrophy may have an independent genetic origin.
  • This case highlights the utility of cone-specific ERGs in dissecting complex visual pathway deficits and informs genetic counseling for inherited retinal disorders.