Title |
Classic homocystinuria and keratoconus: a case report
|
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Published in |
Arquivos Brasileiros de Oftalmologia, January 2018
|
DOI | 10.5935/0004-2749.20180065 |
Pubmed ID | |
Authors |
Patrícia Ioschpe Gus, Natália Paseto Pilati, Bruna Ossanai Schoenardie, Diane Ruschel Marinho |
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. |
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Unknown | 1 | 100% |
Demographic breakdown
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
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Unknown | 13 | 100% |
Demographic breakdown
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Student > Bachelor | 4 | 31% |
Professor > Associate Professor | 2 | 15% |
Student > Master | 1 | 8% |
Other | 1 | 8% |
Researcher | 1 | 8% |
Other | 1 | 8% |
Unknown | 3 | 23% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 5 | 38% |
Biochemistry, Genetics and Molecular Biology | 2 | 15% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 8% |
Agricultural and Biological Sciences | 1 | 8% |
Nursing and Health Professions | 1 | 8% |
Other | 0 | 0% |
Unknown | 3 | 23% |