Besides the intronic variants being associated with AMD, biallelic mutations in the coding region of ABCA1 are known to cause the very rare Tangier disease, a systemic condition characterized by virtual absence of plasma HDLs, cholesterol accumulation in several tissues and, in some instances, peripheral neuropathy and increased risk of developing cardiovascular disease (Schaefer et al., 2016). The gene discussed is ABCA1; the disease is age-related macular degeneration.