Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.

چکیده

Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are inherited retinal diseases that are characterized by severe visual loss very early in life. Whereas LCA is characterized by loss of vision in the first year of life, nystagmus, and absent or abnormal electrical…

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