Molecular Mechanisms Governing Sight Loss in Inherited Cone Disorders.
Genes (Basel)
; 15(6)2024 Jun 01.
Article
in En
| MEDLINE
| ID: mdl-38927662
ABSTRACT
Inherited cone disorders (ICDs) are a heterogeneous sub-group of inherited retinal disorders (IRDs), the leading cause of sight loss in children and working-age adults. ICDs result from the dysfunction of the cone photoreceptors in the macula and manifest as the loss of colour vision and reduced visual acuity. Currently, 37 genes are associated with varying forms of ICD; however, almost half of all patients receive no molecular diagnosis. This review will discuss the known ICD genes, their molecular function, and the diseases they cause, with a focus on the most common forms of ICDs, including achromatopsia, progressive cone dystrophies (CODs), and cone-rod dystrophies (CORDs). It will discuss the gene-specific therapies that have emerged in recent years in order to treat patients with some of the more common ICDs.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Color Vision Defects
/
Retinal Cone Photoreceptor Cells
/
Cone-Rod Dystrophies
Limits:
Animals
/
Humans
Language:
En
Journal:
Genes (Basel)
Year:
2024
Document type:
Article
Affiliation country:
United kingdom