Abstract：
OBJECTIVE: To investigate the relationship between visual prognosis and genotype in patients undergoing lens surgery for congenital ectopia lentis (EL).
METHODS: 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.
METHODS: 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.
摘要：
目的：探讨先天性扁桃体外翻(EL)行晶状体手术患者视力预后与基因型的关系。
方法：前瞻性临床队列研究。
方法：接受晶状体摘除和人工晶状体植入的先天性EL患者接受了基于小组的下一代测序。根据手术年龄将患者分为儿童和青少年/成人。视觉预后，包括最佳矫正视力（BCVA）和弱视，分为短期和中长期。
结果：本研究纳入了329位先天性EL先证者，晶状体手术的中位年龄为7.00岁(四分位距[IQR]=5.00,12.50岁)。具有非FBN1突变的儿童表现出较差的中长期术后BCVA[0.26（IQR：0.14，0.33）与0.15（IQR：0.10，0.22），P=0.034]，弱视患病率较高（44.4%vs.16.8%,P=0.012）与具有FBN1突变的人相比。多变量分析表明基因型(FBN1与非FBN1突变）与儿童术后中远期BCVA（b=-0.128，95％CI-0.214至-0.042，P=0.004）和弱视（OR=0.20，95％CI0.05至0.78，P=0.020）显着相关。FBN1基因型的进一步分类与视觉预后没有显着相关性。然而,在儿童中,基因型和短期视力预后之间没有观察到显著的相关性.轻度EL患儿（OR=0.13，95%CI0.02～0.85，P=0.033）在短期随访中发生弱视的风险较低。对于患有先天性EL的青少年和成人患者，那些术前BCVA和眼轴长度较差的患者应被告知视力预后欠佳。
结论：基因型显著影响先天性EL患儿的中远期视力预后。基因型,连同术前BCVA,可能有助于为患者在晶状体手术后的视力结果建立合理的期望。
方法：前瞻性临床队列研究。
方法：接受晶状体摘除和人工晶状体植入的先天性EL患者接受了基于小组的下一代测序。根据手术年龄将患者分为儿童和青少年/成人。视觉预后，包括最佳矫正视力（BCVA）和弱视，分为短期和中长期。
结果：本研究纳入了329位先天性EL先证者，晶状体手术的中位年龄为7.00岁(四分位距[IQR]=5.00,12.50岁)。具有非FBN1突变的儿童表现出较差的中长期术后BCVA[0.26（IQR：0.14，0.33）与0.15（IQR：0.10，0.22），P=0.034]，弱视患病率较高（44.4%vs.16.8%,P=0.012）与具有FBN1突变的人相比。多变量分析表明基因型(FBN1与非FBN1突变）与儿童术后中远期BCVA（b=-0.128，95％CI-0.214至-0.042，P=0.004）和弱视（OR=0.20，95％CI0.05至0.78，P=0.020）显着相关。FBN1基因型的进一步分类与视觉预后没有显着相关性。然而,在儿童中,基因型和短期视力预后之间没有观察到显著的相关性.轻度EL患儿（OR=0.13，95%CI0.02～0.85，P=0.033）在短期随访中发生弱视的风险较低。对于患有先天性EL的青少年和成人患者，那些术前BCVA和眼轴长度较差的患者应被告知视力预后欠佳。
结论：基因型显著影响先天性EL患儿的中远期视力预后。基因型,连同术前BCVA,可能有助于为患者在晶状体手术后的视力结果建立合理的期望。
