ABCA4 is associated with which ocular condition?

ABCA4 is a gene that encodes a protein involved in the visual cycle, particularly in the transport of retinoids within the retina. Mutations in the ABCA4 gene are primarily linked to Stargardt's disease, which is a form of juvenile macular degeneration. This condition is characterized by progressive vision loss due to the accumulation of lipofuscin in the retinal pigment epithelium, leading to photoreceptor cell degeneration. The relationship between ABCA4 and Stargardt's disease is well-documented, making this the correct association.

Other conditions listed, such as macular degeneration, retinitis pigmentosa, and glaucoma, are driven by different genetic and pathological mechanisms. Macular degeneration generally involves age-related factors and may not be directly linked to ABCA4 mutations. Similarly, retinitis pigmentosa is caused by mutations in various genes unrelated to ABCA4, affecting rod and cone photoreceptor cells leading to progressive vision loss. Glaucoma, which involves increased intraocular pressure and optic nerve damage, is associated with different risk factors and genetic mutations. Thus, the association of ABCA4 with Stargardt's disease stands out as the most direct and specific relationship among the options.