Genetic Factors in Keratoconus
Author Information
Author(s): Patrizia De Bonis, Antonio Laborante, Costantina Pizzicoli, Raffaella Stallone, Raffaela Barbano, Costanza Longo, Emilio Mazzilli, Leopoldo Zelante, Luigi Bisceglia
Primary Institution: IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
Hypothesis
To evaluate the involvement of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.
Conclusion
The study confirms the possible pathogenic role of VSX1 in keratoconus, while excluding LOX and TIMP3, and leaving the roles of SOD1 and SPARC unclear.
Supporting Evidence
- A novel mutation p.G239R was found in VSX1.
- Variants in SPARC and SOD1 were identified, but their pathogenic significance is unclear.
- No pathogenic variants were found in LOX and TIMP3.
- 225 sporadic and 77 familial keratoconus cases were analyzed.
Takeaway
This study looked at genes that might cause keratoconus, a condition that affects the eye, and found that one gene, VSX1, might be important, but more research is needed.
Methodology
Mutational analysis of five genes was performed by sequencing and fragment analysis in 302 patients diagnosed with keratoconus.
Limitations
The study does not definitively clarify the roles of SOD1 and SPARC in keratoconus.
Participant Demographics
302 unrelated probands from southern Italy, including 225 sporadic and 77 familial cases.
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