ABCA4-retinopathies encompass various retinal phenotypes associated with homozygous or compound heterozygous mutations in the ABCA4 gene. It could present as an isolated macular dystrophy, or a more generalised retinal dystrophy.

Alstrom syndrome is a rare multisystemic condition caused by mutations in the ALMS1 gene. It is characterised by progressive sight loss from cone-rod dystrophy, congenital heart problems, hearing loss, childhood-onset obesity, diabetes, kidney and liver dysfunction.