Related Experiment Video
Updated: Feb 7, 2026

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
Published on: May 24, 2016
CRX-linked macular dystrophy with intrafamilial variable expressivity
Khaled Romdhane1, Veronika Vaclavik1, Daniel F Schorderet1,2,3
1a Jules-Gonin Eye Hospital, Department of Ophthalmology , University of Lausanne , Lausanne , Switzerland.
Background:
We present a macular dystrophy of differing severity in a single kindred caused by a heterozygous nonsense mutation in CRX.
Case Report:
A 21-year-old Caucasian male from a Swiss family was investigated for decreasing central visual acuity associated with dischromatopsia. Clinical examination revealed posterior pole atrophy, including the maculopapillary bundle. Multimodal imaging, including autofluorescence, showed a hyperautofluorescent paramacular ring in both eyes. Genetic analysis identified a c.313C>T, p.Q105* nonsense mutation in CRX. The same mutation was identified in his father and uncle. Both of them showed signs of the disease, however with different severity.
Conclusion:
We describe an intrafamilial variable expressivity of a CRX mutation causing an isolated macular dystrophy.
Related Concept Videos
Covalently Linked Protein Regulators
These groups modify specific amino acids in a protein....
Variability: Analysis
The range is a simple measure of variability, indicating the difference between the highest and...
Random Variables
Uppercase letters such as X or Y denote a random variable. Lowercase letters like x or y denote the value of a random variable. If X is a random variable, then X is written in words, and x is given as a number.
For example, let X = the...
X-linked Traits
Satellite Stem Cells and Muscular Dystrophy
Graphs of Equations in Two Variables

