Candidate genes for this disease encode proteins functionally related to photoreceptors, either in the phototransduction process, as in the case of GUCY2D, recovery of retinal photodegradation photoreceptors in phototransduction pathway in the case of GUCA1A, or the formation and maintenance of specific structures within the photoreceptors, as in the case of PRPH2, TTLL5 and CDHR1. Enrichment analysis was crucial to compile a set of other genetic factors that could also be related to CACD, despite not appearing in the systematic review process. The gene discussed is GUCA1A; the disease is central areolar choroidal dystrophy.