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Ocular Manifestations and Biometrics in Marfan's Syndrome from Eastern Nepal
Rinkal Suwal1, Simanta Khadka2, Purushottam Joshi3
1Department of Optometry, BP Eye Foundation, Hospital for Children, Eye, ENT and Rehabilitation Service (CHEERS), Bhaktapur, Nepal.
Purpose:
To evaluate the ocular characteristics of Marfan's syndrome (MFS) fulfilling the revised Ghent-2 nosology in Eastern Nepal.
Materials And Methods:
A hospital-based observational and cross-sectional study was conducted. Ocular manifestations and biometrics were incorporated. Patients were subdivided into adults (16 years or older) and children (5-15 years). Ocular biometric parameters consisted of values of refractive error, keratometry readings, anterior chamber depth (ACD), central corneal thickness (CCT), lens thickness (LT) and axial length (AL).
Results:
A total of 34 eyes of 17 patients with MFS were included, where 32 eyes were phakic. Mean age of the study participants was 14.5 ± 9.1 years. The mean best corrected visual acuity (BCVA) of phakic eyes was 0.99 ± 0.82 LogMAR. Myopia greater than -3 diopters (D) was present in 28/34 (82.35%) eyes. The average spherical equivalent was -12.34 ± 8.85 D. Ectopia lentis (EL) was present in 24/32 (75%) eyes where superonasal was the most common subluxation in 10/24 (41.7%) eyes. AL was longer in adults 26.54 ± 4.42 mm compared to 25.21 ± 1.93 mm in children. Likewise, LT in adults was 4.9 ± 0.70 mm and 4.40 ± 0.59 mm in pediatric participants. Flat corneas were noted in both the groups with an average of 41.53 ± 2.21 D. The mean CCT and ACD were 524.62 ± 21.74 μm and 3.64 ± 0.80 mm, respectively. There was a negative association between the AL and the average corneal curvature (Kmed, correlation coefficient -0.11, p=0.54).
Conclusion:
Myopia is the foremost ocular involvement with significant visual disability in MFS. Though, AL and corneal curvature are not included in the revised Ghent-2 nosology, we strongly recommend these parameters to be considered during ophthalmic evaluation in suspected and diagnosed cases of MFS in the absence of genetic testing.
Insights
Marfan syndrome (MFS) significantly impacts vision, with myopia affecting over 80% of eyes and ectopia lentis common. Axial length and corneal curvature are crucial for ophthalmic evaluation in MFS.
Area of Science:
- Ophthalmology
- Genetics
- Marfan Syndrome
Background:
- Marfan syndrome (MFS) is a genetic disorder affecting connective tissue.
- Ocular manifestations are common in MFS and can lead to significant visual impairment.
- The revised Ghent-2 nosology provides diagnostic criteria for MFS.
Purpose of the Study:
- To evaluate the ocular characteristics of patients with Marfan syndrome (MFS) in Eastern Nepal.
- To assess ocular biometric parameters in MFS patients fulfilling the revised Ghent-2 nosology.
Main Methods:
- A hospital-based observational, cross-sectional study was conducted.
- Ocular manifestations and biometrics were recorded in 17 MFS patients (34 eyes).
- Patients were categorized into adults (≥16 years) and children (5-15 years).
Main Results:
- Myopia was prevalent (82.35%), with an average spherical equivalent of -12.34 D.
- Ectopia lentis occurred in 75% of phakic eyes, predominantly superonasal.
- Adults had longer axial length (AL) and lens thickness (LT) than children; corneas were flatter.
Conclusions:
- Myopia is the primary ocular issue in MFS, causing significant visual disability.
- Axial length and corneal curvature are recommended for ophthalmic evaluation in MFS, even without genetic testing.
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