Recent developments in the management of congenital cataract

Abstract

Congenital cataract is a rare eye disease, one of the leading treatable causes of low vision in children worldwide. Hereditary cataracts can be divided in syndromic and non-syndromic cataracts. Early diagnosis in congenital cataracts is key to reach good visual function. Current surgical techniques, that combine microincision cataract extraction and primary intraocular lens (IOL) implantation, have improved childhood cataract outcome. Complications include posterior capsule opacification (PCO), aphakic or pseudophakic glaucoma, uveitis, pupil displacement and IOL decentration. A recent study using a modified Delphi approach identified areas of consensus and disagreement in the management of pediatric cataract. A consensus or near consensus was achieved for 79% of the questions, however 21% of the questions remained controversial, as for IOL implantation strategy. Congenital cataracts show a highly variable phenotype and genotype, and can be related to different mutations, genetic variance, and other risk factors. Congenital cataracts can be associated with other ocular developmental abnormalities, including microphthalmia, microcornea, or aniridia and with systemic findings. Next-generation sequencing (NGS) and forthcoming new ultra-high-throughput sequencing represent excellent tools to investigate the genetic causes of congenital cataracts. A better recognition of different clinical presentations and underlying etiologies of congenital cataracts may lead to the development of new approaches to improve visual outcome after cataract surgery and promote early detection of systemic associated syndromes.

Prenatal Diagnosis of the Unique Combination of Bilateral Congenital Cataracts With Strabismus

“…Microincision cataract aspiration combined with posterior capsulotomy, anterior vitrectomy, and primary intraocular lens (IOL) implantation is now recognized as the optimal surgical option for a large part of pediatric cataracts. 2 Prenatal demonstration of bilateral congenital cataracts in conjunction with congenital strabismus is a rare and unique combination of ocular abnormalities that has not been previously reported. Both anomalies can be diagnosed by prenatal ultrasound and the experienced ultrasound examiner should be familiar with obtaining views of the orbits and lenses.…”

“…Congenital cataracts may also impair lens growth, eyeball axial length and refractive properties, all leading to visual disturbances. 2 The reported incidence varies depending on geographical location with an incidence of 1-6 cases per 10,000 live births in industrialized countries, which increases to 5-15 per 10,000 in underdeveloped regions of the world. 3 In one study, 1027 cases of congenital/infantile cataract were analyzed resulting in 36% of cases being unilateral and 64% with bilateral presentation.…”

Screening, Diagnosis, and Treatment of Pediatric Ocular Diseases

“…As cataracts can completely obscure vision by opacifying the lens, removal of symptomatic cataracts is recommended to restore vision in the affected eye(s) and prevent amblyopia in younger patients. Patients with significant congenital cataracts should pursue surgery as soon as possible, ideally within the first 6 weeks of life [ 116 , 117 ]. Patients younger than 6 months will typically receive aphakic contact lenses to replace their natural lens rather than an intraocular lens, as is standard for older children and adults.…”

Morphological characteristics of the subfoveal choroid and their association with visual acuity in postoperative patients with unilateral congenital cataracts

“…Despite this, the visual outcomes of cataractous patients vary greatly, ranging from useful visual acuity to blindness ( 2 , 3 ). Previous studies have suggested that cataract type ( 3 ), age at cataract extraction ( 4 ) and compliance with amblyopia therapy ( 5 ) are important determinants of visual outcomes for patients with CCs. Recently, it was also reported in unilateral CC patients’ affected eyes had greater foveal retinal thickness than their healthy fellow eyes ( 6 , 7 ).…”