10.6084/m9.figshare.7101893.v1 Patrícia Ioschpe Gus Patrícia Ioschpe Gus Natália Paseto Pilati Natália Paseto Pilati Bruna Ossanai Schoenardie Bruna Ossanai Schoenardie Diane Ruschel Marinho Diane Ruschel Marinho Classic homocystinuria and keratoconus: a case report SciELO journals 2018 Keratoconus Homocystinuria/genetics Collagen Corneal strome 2018-09-19 02:57:06 Dataset https://scielo.figshare.com/articles/dataset/Classic_homocystinuria_and_keratoconus_a_case_report/7101893 <div><p>ABSTRACT 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.</p></div>