Features include always present findings: Reduced visual acuity, Visual impairment, Central scotoma, and Macular dystrophy; and very common findings: Red-green dyschromatopsia. 9 total HPO annotations.

MFSD8 encodes major facilitator superfamily domain containing 8 (518 aa). Outward-rectifying chloride channel involved in endolysosomal chloride homeostasis, membrane fusion and function. Conducts chloride currents up to hundreds of picoamperes. Highest expression in Brain Cerebellar Hemisphere (20.7 TPM) and Ovary (16.8 TPM).

Macular dystrophy with central cone involvement is associated with mutations in the MFSD8 gene on chromosome 4.

MFSD8 is classified as a druggable target (Druggable Genome and Transporter categories) with score 0.0.

Genetic testing for MFSD8 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for macular dystrophy with central cone involvement has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 1 very common feature, 2 common features.

No clinical trials have been registered for macular dystrophy with central cone involvement.

20 publications have been identified in PubMed for macular dystrophy with central cone involvement. Research spans Case Report / Case Series (44%), Epidemiology / Natural History (38%), and Diagnostic / Biomarker (13%).