Congenital adrenal hyperplasia due to 21-hydroxylase deficiency associated with bilateral keratoconus.
OBJECTIVE
To report a clinical association between congenital adrenal hyperplasia and keratoconus.


METHODS
Observational case report.


METHODS
Two 25-year-old dizygotic female twins were retrospectively studied. Clinical history, hormonal serologic profile, complete ophthalmologic examination, and Holladay Diagnostic Summary variables were evaluated. In the course of a 15-month follow-up period, a progression of the corneal disease was observed.


RESULTS
In both twins a diagnosis of nonclassical congenital adrenal hyperplasia, due to 21-hydroxylase deficiency, was established when they were 21 years old. In one subject, the computed corneal topographic analyses diagnosed an asymmetric keratoconus in both eyes. A progressive form of fruste central keratoconus was also documented in her sister.


CONCLUSIONS
Congenital adrenal hyperplasia may be associated with keratoconus. An abnormal steroidogenic pathway, affecting the normal development of the cornea, could induce stromal abnormalities that lead to corneal ectasia.
Incorvaia
Carlo
C
Department of Ophthalmology, University of Ferrara, Ferrara, Italy.
Parmeggiani
Francesco
F
Costagliola
Ciro
C
Perri
Paolo
P
Tittoni
Marzia
M
Sebastiani
Adolfo
A
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D000328:Adult; D003315:Cornea / Q000473:pathology*; D019781:Corneal Topography; D004200:Diseases in Twins / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007640:Keratoconus / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D012189:Retrospective Studies; D013255:Steroid 21-Hydroxylase / Q000378:metabolism*; D014429:Twins, Dizygotic
D013255:Steroid 21-Hydroxylase