<i>ABCA4</i> Sequence Variants in Chinese Patients with Age-Related Macular Degeneration or Stargardt’s Disease

<i>ABCA4</i> gene sequence alterations cause Stargardt’s disease (STGD) and may cause some age-related macular degeneration (AMD). We sought to shed light on these associations among Hong Kong Chinese by genotyping 140 AMD, 18 STGD and 95 normal control subjects for 15 <i>ABCA4</i> exons which were reported to often contain AMD- or STGD-associated mutations. Sequence alterations R212H, T1428M, V1433I, T1572M, I2166M, IVS6–5T>G and IVS33+1G>T were found in AMD patients. T1428M and R2040X occurred in STGD patients. Control subjects displayed all the above missense alterations but no splicing or nonsense changes. Therefore, <i>ABCA4</i> splicing mutations may be associated with a small proportion of AMD cases.