关键词: 晶状体半脱位, FBN1基因, 目标基因捕获, 高通量测序, 基因突变

Abstract:

Objective To reveal mutations of the gene FBN1 of an isolated ectopia lentis family(EL),  and to sum up the surgical procedures of lens subluxation. Design Retrospective case series. Participants An isolated ectopia lentis family in Beijing Tongren Hospital was recruited in 2014. Methods We analyzed all members. Periperal blood was collected and genomic DNA was isolated. FBN1 were selected by a gene capture strategy,  using custom enrichment kit. The enrichment libraries were sequenced on HiSeq2000 sequencer to determine the mutation frequency in FBN1. The probable mutation was determined with the method of the first-generation sequencing. Four cases (8 eyes) with the range of lens dislocation 90~180 degree were performed phacoemulsification combined with capsular tension ring (CTR) and intraocular lens (IOL) implantation,  then after 2~3 months repositioning of CTR-IOL complex. One case (2 eyes) with the range of lens dislocation more than 180 degree were performed pars plana lensectomy combined with sclera-sutured IOL implantation (PPL+PPV+IOL). Two cases (4 eyes) were performed ICCE. One case (1 eye) was performed PPV. Main Outcome Measures Mutations of FBN1 gene,  surgical procedures,  best corrected visual acuity (BCVA). Results We found all the affected individuals carried FBN1 gene mutations,  c.4588C>T（p.R1530C）,  in exon38 by sequence analysis,  while the unaffected family members did not have this mutation. The BCVA in cases underwent Phaco+CTR+IOL was 0.5~0.8. BCVA in cases underwent PPL+PPV+IOL was 0.3~0.5. Conclusion Our study showed that FBN1 gene mutation,  c.4588C>T(p.R1530C),  was the underlying molecular pathogenesis of this family. The treatment with Phaco+CTR+IOL and adjusting the IOL 2-3 months after the surgery led to good BCVA results.（Ophthalmol CHN,  2018, 27：  85-90）

Key words: isolated ectopia lentis, FBN1 gene, targeted gene capture, next-generation sequencing, mutation