Ocular Manifestations and Biometrics in Marfan's Syndrome from Eastern Nepal

To evaluate the ocular characteristics of Marfan's syndrome (MFS) fulfilling the revised Ghent-2 nosology in Eastern Nepal.

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).

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 (K_med, correlation coefficient -0.11, p=0.54).

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.