Features include always present findings: Bull's eye maculopathy. 3 total HPO annotations.

ABCA4 encodes ABCA4 (2,273 aa). Flippase that catalyzes in an ATP-dependent manner the transport of retinal-phosphatidylethanolamine conjugates like 11-cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine (N-Ret-PE) from the lumen to the cytoplasmic leaflet of photoreceptor outer segment disk membranes, where 11-cis-retinylidene-phosphatidylethanolamine is then isomerized to its all-trans isomer and reduced by RDH8 to produce all-trans-retinol. Highest expression in Kidney Medulla (4.0 TPM) and Testis (1.4 TPM).

Severe early-childhood-onset retinal dystrophy is associated with mutations in the ABCA4 gene on chromosome 1.

The ABCA4 protein participates in ABCA4 mediates atRAL transport, Defective ABCA4 does not transport NRPE from disc membranes, and ABCA4 transports NRPE from photoreceptor outer segment membrane to cytosol pathways.

ABCA4 is classified as a druggable target (Abc Transporter, Druggable Genome, and Transporter categories) with score 1.1.

882 pathogenic variants reported in ABCA4 in ClinVar, including hotspot variants 511074 (2-star review) and 438100 (2-star review).

Genetic testing for ABCA4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for severe early-childhood-onset retinal dystrophy has been reported in the published literature.

Phenotype severity distribution: 1 always present feature.

Estimated prevalence: Unknown (Unknown prevalence).

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions and gene therapy. Pipeline includes 1 EARLY_PHASE1. Research is primarily industry-sponsored.

51 publications have been identified in PubMed for severe early-childhood-onset retinal dystrophy. Research spans Basic Science / Preclinical (25%), Case Report / Case Series (24%), and Epidemiology / Natural History (24%).