Since its identification, ten disease-causing mutations in the GUCA1A gene have been reported to cause autosomal dominant COD, CORD, and macular dystrophy (adMD) in several unrelated families: p.P50L, p.E89K, p.Y99C, p.D100E, p.N104K, p.T114I, p.I143NT, p.L151F, p.E155G, and p.G159V [3–11] (Table 1). The gene discussed is GUCA1A; the disease is Macular dystrophy.