摘要: Molecular genetic evidence has contributed significantly to the understanding of fundamental molecular biology eye in health and disease, but it also exposed inadequacy our traditional clinically based classification hereditary disorders by unravelling significant non-allelic heterogeneity many disorders. Furthermore, epidemiology ocular gained considerably establishment mutation spectra a rapidly growing number monogenic In this overview, special emphasis been put on impact diseases visual impairment, heterogeneity, role founder mutations for skewed appearance certain some populations.
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