Classic homocystinuria and keratoconus: a case report.
Arq Bras Oftalmol
; 81(4): 336-338, 2018.
Article
en En
| MEDLINE
| ID: mdl-29995127
Homocystinuria is one of a group of genetic disorders called inborn errors of metabolism. It is characterized by a deficiency of the enzyme that converts homocysteine to cystathionine. Keratoconus is an ophthalmologic condition characterized by thinning of the corneal stroma, which causes the cornea to assume a conical shape. There is little information in the scientific literature about the association between keratoconus and homocystinuria. We believe that a collagen cross-linking defect may be the key to understand the connection between these two conditions. This case report describes a 38-year-old male patient with a diagnosis of classical homocystinuria since age 13. At the age of 16, he received a diagnosis of asymmetrical keratoconus when referred for lensectomy with vitrectomy of his left eye. To the best of our knowledge, this is the first report of a patient with simultaneous homocystinuria and keratoconus.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Homocistinuria
/
Queratocono
/
Cristalino
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Arq Bras Oftalmol
Año:
2018
Tipo del documento:
Article
País de afiliación:
Brasil
Pais de publicación:
Brasil