Phenotype/genotype evolution in corneal embryologic malformations

Purpose To describe the evolution of a clinically useful classification of corneal developmental anomalies which has also allowed more accurate phenotype/genotype correlation. Methods The use of clinical documentation using anterior segment photography, normal ultrasound of the eyeball, and high frequency ultrasound and where available histology of host tissue has allowed detailed phenotypes to be developed . Intraoperative recordings of phenotype have also been noted. Genotyping of specific patterns groupings of corneal developmental anomaly phenotypes. Retrospective analysis of clnical outcome with or without surgical intervention. Results Corneal developmental anomalies are best considered in terms of primary corneal disease and secondary corneal disease. The former includes dystophies ( CHED, PPCD and X‐L ECD) , corneal dermoids and isolated sclerocornea ( CNA 1 and 2 ).Secondary corneal disease includes secondary to, iridotrabecular anomalies ( eg congenital glaucoma, aniridia, axenfeld ‐rieger anomaly), kerato‐irido‐lenticular dysgenesis ( iridolenticular adhesions( Peters type I), failure of lens to form,separate or move away from the cornea). Conclusion Using this classification prognosis for intervention can be shown to be mor successful in primary corneal developmental anomalies. Also by considering groups of patients with similar disease eg primary aphakia, appropriate genotyping can be done eg FOXE3 analysis for children with primary aphakia . More acccurate phenotype allows better clinical classification and ultimately better genotyping of corneal developmental anomalies