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Genotype Associated With Visual Prognosis in Patients With Congenital Ectopia Lentis Following Lens Surgery: A
Wan-Nan Jia1, Ze-Xu Chen1, Ya-Lei Wang1
1From the Eye Institute and Department of Ophthalmology (W.N.J., Z.X.C., Y.L.W., X.S., X.Y.C., T.H.C., Y.S., Y.L., L.H.S., Q.Y.H., and Y.X.J.), Eye & ENT Hospital, Fudan University, Shanghai China; NHC Key Laboratory of Myopia (Fudan University), Key Laboratory of Myopia (W.N.J., Z.X.C., Y.L.W., X.S., X.Y.C., T.H.C., Y.S., Y.L., L.H.S., Q.Y.H., and Y.X.J.), Chinese Academy of Medical Sciences, Shanghai, China; Shanghai Key Laboratory of Visual Impairment and Restoration (W.N.J., Z.X.C., Y.L.W., X.S., X.Y.C., T.H.C., Y.S., Y.L., L.H.S., Q.Y.H., and Y.X.J.), Shanghai, China.
Purpose:
To investigate the relationship between visual prognosis and genotype in patients undergoing lens surgery for congenital ectopia lentis (EL).
Design:
Prospective clinical cohort study.
Methods:
Patients with congenital EL who underwent lens removal and intraocular lens implantation received panel-based next-generation sequencing. Patients were grouped into children and adolescents/adults based on the age at surgery. The visual prognosis, including best-corrected visual acuity (BCVA) and amblyopia, was stratified into short-term and medium to long-term.
Results:
This study included 329 probands with congenital EL, with a median age at lens surgery of 7.00 years (interquartile range [IQR] = 5.00, 12.50 years). Children with the non-FBN1 mutation exhibited inferior medium to long-term postoperative BCVA (0.26 [IQR: 0.14, 0.33] vs 0.15 [IQR: 0.10, 0.22], P = .034) and a higher prevalence of amblyopia (44.4% vs 16.8%, P = .012) compared to those with FBN1 mutation. Multivariable analysis showed that genotype (FBN1 vs non-FBN1 mutation) was significantly associated with medium to long-term postoperative BCVA (b = -0.128, 95% CI -0.214 to -0.042, P = .004) and amblyopia (OR = 0.20, 95% CI 0.05-0.78, P = .020) in children. Further classification of FBN1 genotype did not yield significant correlations with visual prognosis. However, no significant correlation was observed between genotype and short-term visual prognosis in the children. Children with less severe EL (OR = 0.13, 95% CI 0.02-0.85, P = .033) had lower risks of amblyopia in the short-term follow-up. For adolescent and adult patients with congenital EL, those with poor preoperative BCVA and long axial length should be informed of suboptimal visual prognosis.
Conclusions:
Genotype significantly influences the medium to long-term visual prognosis in children with congenital EL. Genotype, along with preoperative BCVA, may assist in establishing reasonable expectations for patients regarding their visual outcomes after the lens surgery.
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