The genotype‐phenotype controversy in ophthalmology, Implications of heterogeneity on diagnosis, embryology and molecular function

Abstract

ABSTRACT. Genetic heterogeneity in ophthalmology adds a new dimension to differential diagnosis and prognosis. The indispensable clinical classification is refined by molecular genetic strategies. They sometimes build up new families of diseases, sometimes indicate that what was thought to be aetiologically related disorders are caused by different genetic mechanisms. Heterogeneity throws new light on embryological pathways, and the molecular genetics of the eye increases the information of the localisation of metabolically active substances and structural proteins in the eye.