Related Experiment Video
Updated: Aug 4, 2026
11:22
Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures
Published on: December 22, 2014
Late onset dominant cone dystrophy with early blue cone involvement
L N Went1, M J van Schooneveld, J A Oosterhuis
1Department of Human Genetics, Faculty of Medicine, University of Leiden, The Netherlands.
Journal of Medical Genetics
|May 1, 1992
Summary
A Dutch family shows a dominant cone dystrophy affecting vision after age 20. This genetic eye condition involves a near-complete loss of blue cone function, preceding vision loss.
Area of Science:
- Ophthalmology
- Genetics
- Vision Science
Background:
- Cone dystrophies are inherited retinal diseases affecting central vision.
- Blue cone dysfunction can be an early indicator of retinal abnormalities.
Purpose of the Study:
- To investigate a dominant cone dystrophy in a multi-generational Dutch pedigree.
- To characterize the clinical and functional phenotype of the affected individuals.
Main Methods:
- Pedigree analysis across seven generations.
- Clinical ophthalmological examinations.
- Functional visual testing, including assessment of blue cone function.
Main Results:
- A dominant cone dystrophy was identified in the pedigree.
- Visual acuity decline began after age 20 in affected individuals.
- A significant loss of blue cone function (tritan defect) was observed prior to clinical vision impairment.
Conclusions:
- This study describes a novel dominant cone dystrophy with early functional deficits.
- The findings highlight the importance of blue cone function assessment in diagnosing inherited retinal diseases.
Related Concept Videos
01:11Genetic Lingo
Overview
01:32The Retina
The retina is a layer of nervous tissue at the back of the eye that transduces light into neural signals. This process, called phototransduction, is carried out by rod and cone photoreceptor cells in the back of the retina.
01:20Anatomy of the Eyeball
The eye is a spherical, hollow structure composed of three tissue layers. The outer layer — the fibrous tunic, comprises the sclera — a white structure — and the cornea, which is transparent. The sclera encompasses some of the ocular surface, most of which is not visible. However, the 'white of the eye' is distinctively visible in humans compared to other species. The cornea, a clear covering at the front of the eye, enables light penetration. The eye's middle layer, the vascular tunic,...
01:22Photoreceptors and Visual Pathways
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category, whereas...