ABCA4-related Cone-Rod Dystrophy

ABCA4-related Cone-Rod Dystrophy is a progressive inherited retinal degeneration in which cone dysfunction and central visual loss predominate initially, followed by rod involvement, peripheral field loss and night blindness. It lies within the ABCA4 retinopathy spectrum, which also includes Stargardt disease.
SHOW MOUSE MODELS

Genetics

Usually autosomal recessive and caused by biallelic pathogenic variants in ABCA4. Residual transporter activity and the combination of severe and hypomorphic alleles strongly influence age at onset and progression.

Molecular Mechanism

ABCA4 transports N-retinylidene-phosphatidylethanolamine across photoreceptor disc membranes. Deficiency promotes bisretinoid formation and A2E-rich lipofuscin accumulation in retinal pigment epithelium, leading to RPE toxicity and secondary photoreceptor loss.

Therapy

No ABCA4-specific therapy is approved. Management includes low-vision support and avoidance of unnecessary high-dose vitamin A supplementation. Large-gene delivery, gene editing, visual-cycle modulation and cell-based approaches are under development.

CCP Activity

CCP designs and prepares development of clinically relevant mouse models.

Mouse Models Mouse Models & Gene Cards

Mouse ModelsGene Cards
TBDTBD