A novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: a case report and review of the literature.

BACKGROUND: Congenital ectopia lentis is characterized by dislocation of the lens caused by partial or complete abnormalities in the zonular fibers. It can be caused by either systemic diseases or isolated ocular diseases. Gene detection techniques can provide valuable information when an etiological diagnosis is challenging. Herein, we report the case of a six-year-old girl with a confirmed diagnosis of isolated ectopia lentis caused by a compound heterozygous ADAMTSL4 gene mutation. CASE PRESENTATION: The patient was a 6-year-old Chinese Han girl with strabismus in the right eye. Slit lamp examination revealed that the lens in the right eye was opacified and dislocated, without an ectopic pupil. Gene detection demonstrated the presence of a compound heterozygous mutation in the ADAMTSL4 gene [c. 2270dupG (p.Gly758Trpfs *59) and c. 2110A > G (p.Ser704Gly)], and the diagnosis of isolated ectopia lentis was confirmed. She underwent lens extraction, and a sutured scleral-fixated posterior chamber intraocular lens (IOL) was placed in the right eye. The best-corrected visual acuity was 0.1 one month postoperatively. CONCLUSION: Gene detection plays a crucial role in diagnosing disorders with similar symptoms, such as isolated ectopia lentis and Marfan syndrome. In this study, we used whole exons sequencing to diagnose isolated ectopia lentis and identified the variant c.2110A > G (p.Ser704Gly), which may be associated with the development of ectopia lentis and early-onset cataract in the patient. These pathogenic gene mutations have significant implications for the genetic diagnosis of congenital ectopia lentis, treatment, surveillance, and hereditary and prenatal counseling for the patient and their family members.

Sutured Scleral Fixation of Posterior Chamber Intraocular Lens in Children under the Age of 9 with Congenital Ectopia Lentis.

INTRODUCTION: This study aimed to report the visual acuity outcomes and complications of sutured scleral fixation of posterior chamber intraocular lens (IOL) in children under 9 years old with congenital ectopia lentis. METHODS: Twenty-six children (47 eyes) with congenital ectopia lentis were included in this study. The mean age at surgery was 61.6 ± 22.3 months (range, 32-94). Patients underwent lens extraction, anterior vitrectomy, and sutured scleral fixation of posterior chamber IOL. The implanted IOL included rigid polymethyl methacrylate (PMMA) IOL (CZ70BD, n = 36) and foldable IOL (SA60AT, n = 9, and LI61SE, n = 2). The outcome measures used to assess the benefits were uncorrected visual acuity (UCVA), best-corrected visual acuity (BCVA), refraction, intraocular pressure, and any associated complications. Median follow-up was 33.0 months (range, 4-129). RESULTS: After surgery, the median UCVA (1.30 vs. 0.35 logMAR) and BCVA (0.82 vs. 0.15 logMAR) improved significantly (p < 0.001). The median absolute spherical values decreased considerably (9.00 vs. 0.75 D; p < 0.001). The median astigmatism was lower in foldable IOL compared to rigid PMMA IOL (1.0 vs. 2.5 D; p = 0.026), but neither the UCVA nor BCVA was significantly different. There was no intraoperative complication. Postoperative complications included pupillary capture in 4 eyes (9%), IOL decentration in 4 eyes (9%), choroid edema in 1 eye (2%), and subretinal hemorrhage in 1 eye (2%). The rate of secondary surgery was 9%, caused by IOL decentration of IOL haptics which was broken in 3 eyes and suture degradation in 1 eye. CONCLUSION: Sutured scleral fixation of posterior chamber IOL provided good visual outcomes in children under 9 years of age with congenital ectopia lentis. Although there were some risks of secondary surgery, the complications were acceptable.