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Updated: Feb 7, 2026
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Three Different Protocols of Corneal Collagen Crosslinking in Keratoconus: Conventional, Accelerated and Iontophoresis
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Classic homocystinuria and keratoconus: a case report
Patrícia Ioschpe Gus1, Natália Paseto Pilati2, Bruna Ossanai Schoenardie2
1Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
Arquivos Brasileiros De Oftalmologia
|July 12, 2018
Summary
Homocystinuria, a metabolic disorder, and keratoconus, an eye condition, may be linked by collagen cross-linking defects. This case report details the first known patient with both homocystinuria and keratoconus.
Area of Science:
- Biochemistry
- Ophthalmology
- Genetics
Background:
- Homocystinuria is an inherited metabolic disorder caused by enzyme deficiency, leading to elevated homocysteine levels.
- Keratoconus is an eye condition characterized by progressive thinning and conical deformation of the cornea.
- The scientific literature lacks substantial information on the association between homocystinuria and keratoconus.
Observation:
- This case report presents a 38-year-old male diagnosed with classical homocystinuria at age 13.
- The patient was diagnosed with asymmetrical keratoconus at age 16, requiring ocular surgery.
- This represents the first documented instance of a patient presenting with both homocystinuria and keratoconus.
Findings:
- The simultaneous occurrence of homocystinuria and keratoconus in this patient suggests a potential underlying connection.
- A collagen cross-linking defect is hypothesized as the unifying factor linking these two distinct conditions.
- Further research is warranted to explore the biochemical pathways involved.
Implications:
- This case highlights a potential, previously unrecognized link between metabolic disorders and corneal ectasias.
- Understanding the collagen cross-linking defect could lead to novel therapeutic strategies for both conditions.
- This finding may prompt further investigation into metabolic screening for keratoconus patients and ophthalmologic evaluation for homocystinuria patients.
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