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Invited Commentary
January 17, 2019

Overlapping Phenotypes in Congenital Ocular Malformations and the Importance of Molecular Testing

Author Affiliations
  • 1Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio
JAMA Ophthalmol. 2019;137(4):355-357. doi:10.1001/jamaophthalmol.2018.5638

Ocular phenotypes of genetically determined eye disorders vary widely and overlap in physical findings and clinical appearance. This is particularly true of anterior segment dysgenesis and many of the retinal dystrophies. Malformations associated with PAX6 are a classic example in which the clinical findings span the spectrum from foveal hypoplasia with minor or absent iris abnormalities to full blown aniridia with near-total loss of iris tissue and from mild limbal keratopathy to Peters anomaly or congenital cataract.