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Association Between Keratoconus and Familial Mediterranean Fever in Turkey
Mustafa Kosker1, Nese Arslan, Muhammed Yunus Alp
1*Cornea Service, Department of Ophthalmology, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey; †Genetic Diagnostic Center, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey; and ‡Department of Rheumatology, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey.
Purpose:
To evaluate the association between familial Mediterranean fever (FMF) and keratoconus (KC).
Methods:
This retrospective case-control study was performed to compare the prevalence of KC in patients with FMF with the corresponding prevalence in control patients without FMF referred to Genetic Diagnostic Center at Diskapi Yildirim Beyazit Training and Research Hospital from June 2012 to June 2015. We included all 100 patients with FMF. Each FMF-affected patient was matched to 3 controls.
Results:
None of the patients in the control group (0%, 0/300) had KC, whereas 4 of 100 patients with FMF (4%) had KC (P < 0.004). Three of 33 patients with a homozygous mutation (9.1%) (M694V/M694V in 2 cases and M680I/M680I in 1 case) and 1 of the 46 patients with a compound heterozygous mutation (2.2%) (M694V/M680I) had KC, whereas none of the 21 patients with a heterozygous mutation (0%) had KC. All patients with KC were women, and mean age was 40.8 years (range, 30-51). Although 1 of the 4 patients with KC had hypertension and type 2 diabetes mellitus, the other 3 patients did not have any systemic illness except FMF. When we compared the prevalence of KC in patients with FMF (4%) with the highest prevalence of KC reported in the literature (0.2%), FMF was a predisposing factor to develop KC [odds ratio: 18.1 (95% CI: 11.9-27.5)] especially in patients with a homozygous mutation [odds ratio: 43.4 (95% CI: 28.6-65.7)].
Conclusions:
Mediterranean fever (MEFV) gene mutations, particularly in homozygous mutations of the MEFV gene, may be a predisposing factor in the development of KC.
Insights
Familial Mediterranean Fever (FMF) is linked to a higher risk of developing keratoconus (KC), especially with homozygous MEFV gene mutations. This suggests FMF may predispose individuals to KC.
Area of Science:
- Ophthalmology
- Genetics
- Rheumatology
Background:
- Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disorder.
- Keratoconus (KC) is a progressive thinning of the cornea.
- The relationship between FMF and KC requires further investigation.
Purpose of the Study:
- To investigate the association between FMF and the prevalence of KC.
- To determine if FMF is a risk factor for developing KC.
Main Methods:
- A retrospective case-control study was conducted.
- 100 FMF patients were compared with 300 controls.
- Prevalence of KC in FMF patients versus controls was analyzed.
Main Results:
- 4% of FMF patients had KC, compared to 0% in controls (P < 0.004).
- Homozygous MEFV gene mutations showed a significantly higher KC prevalence (9.1%).
- FMF was identified as a predisposing factor for KC (OR: 18.1), particularly with homozygous mutations (OR: 43.4).
Conclusions:
- MEFV gene mutations, especially homozygous ones, may predispose individuals to KC.
- FMF is a significant risk factor for developing KC.
