Congenital adrenal hyperplaia due to 21-hydroxylae deficiency aociated with bilateral keratoconu

Purpoe To report a clinical aociation between congenital adrenal hyperplaia and keratoconu. Deign Obervational cae report. Method Two 25-year-old dizygotic female twin were retropectively tudied. Clinical hitory, hormonal erologic profile, complete ophthalmologic examination, and Holladay Diagnotic ummary variable were evaluated. In the coure of a 15-month follow-up period, a progreion of the corneal dieae wa oberved. Reult In both twin a diagnoi of nonclaical congenital adrenal hyperplaia, due to 21-hydroxylae deficiency, wa etablihed when they were 21 year old. In one ubject, the computed corneal topographic analye diagnoed an aymmetric keratoconu in both eye. A progreive form of frute central keratoconu wa alo documented in her iter. Concluion Congenital adrenal hyperplaia may be aociated with keratoconu. An abnormal teroidogenic pathway, affecting the normal development of the cornea, could induce tromal abnormalitie that lead to corneal ectaia.