Genomics and the Eye

Abstract

The eye has had a pivotal role in the evolution of human genomics. At least 90% of the genes in the human genome are expressed in one or more of the eye's many tissues and cell types at some point during a person's life. Consistent with this impressive genomic footprint is the observation that about a third of entries in the Online Mendelian Inheritance in Man database for which a clinical synopsis is provided include a term that refers to the structure or function of the eye.¹ Moreover, the phenotypic effects of even small genetic variations are made readily apparent by the many layers of amplification in the human visual system. For example, a single-nucleotide change in PAX6 can cause an anatomic abnormality of the macula less than a millimeter in diameter that results in noticeably reduced visual acuity and nystagmus.²