The microphthalmic eye: cataract surgery and genetic evaluation

Session Details

Session Title: Moderated Poster Session: Cataract
Session Date/Time: Friday 10/02/2017 | 13:00-14:00
Paper Time: 13:24
Venue: Poster Area


First Author: D. Borroni LATVIA
Co Author(s): M. Ferronato  A. Zemitis  E. Drucka  Z. Krumina  I. Lace  S. Sepetiene  

Abstract Details

Purpose:

Congenital cataracts rappresent 25% to 30% of avoidable blindness and microphthalmus has been found in 7% to 17% of these patients. The genetic map of eye-related genes has been analyzed and SOX2 gene has been found as a major causative gene. Our purpose is to report the outcomes and complications of congenital cataract surgery with IntraOcular-Lens(IOL) implantation in Microphthalmic eyes. The aims of surgeries were to decrease amblyopia, strabisums and give a full visual development to visual system. In microphthalmic eyes IOL implantation is more challenging due to small anatomy but it gives better visual prognosis than eyes left aphakic.

Setting:

Riga Stradins University – Latvia.

Methods:

The study involved 29 microphthalmic eyes from 21 children younger than 3 years of age with congenital cataract. Surgeries consisted in aspiration of the lens and IOL implantation. Eyes with inflammation, ocular trauma, aniridia, chorioretinal coloboma or vitreo-retinal diseases were excluded. 8 patients had bilateral cataract. The outcome measures were Intraocular Pressure (IOP), Best-Corrected Visual Acuity (BCVA) intraoperative and postoperative complications. Genomic DNA was extracted from blood. SOX2 coding region was amplified and PCR product were sequenced with Big Dye Terminator v3.1 (Applied Biosystems, Foster City, CA). Initially identified changes were confirmed by additional independent PCR and sequencing experiments.

Results:

Mean age at the time of surgery was 30.4 ± 10.8 months. Mean ocular axial length was 18.6 ± 0.7 mm. Mean preoperative IOP was 9.3 ± 1.2 mmHg and 10.8 ± 2.7 mmHg on final follow­up. No one intraoperative complications happened. Postoperative complication hapened in one eye (the shortest one with 17.9mm of axial lenght) who developed secondary visual axis opacification. Preoperative and postoperative BCVA was 2.01 ± 0.89 logMAR and 0.31 ± 0.06 logMAR in bilateral cases and 1.81 ± 0.97 logMAR and 0.32 ± 0.13 logMAR in unilateral cases, respectively. SOX2 mutations appear in 8/29 cases (27%).

Conclusions:

In microphthalmic eyes primary IOL implantation in congenital cataract surgery resulted in a significant BCVA improvement with minimal postoperative and no intraoperative complications. Glaucoma and axial opacifications are well knowed long term postoperative complications and children who underwent congenital cataract surgery must be followed-up regularly. Shorter axial lenght is a significat risk factor for post-operative complicatons. SOX2 mutation is found to be one of the major causes of microphthalmus and further studies of mutations affecting the lens membranes (aquaporins/Mip, Lim-2 or connexins) or the structural proteins of the cytosol will give a better uderstanding of congenital cataracts in developing eyes.

Financial Disclosure:

None