ABSTRACT
BACKGROUND: Anophthalmia, microphthalmia and coloboma are a genetically heterogenous spectrum of developmental eye disorders. Recently, variants in the Wnt-pathway gene Frizzled Class Receptor 5 (FZD5) have been identified in individuals with coloboma and rarely microphthalmia, sometimes with additional phenotypes and variable penetrance. MATERIALS AND METHODS: We identified variants in FZD5 in individuals with developmental eye disorders from the UK (including the DDD Study [www.ddduk.org/access.html]), France and Spain using whole genome/exome sequencing or customized NGS panels of ocular development genes. RESULTS: We report eight new families with FZD5 variants and ocular coloboma. Three individuals presented with additional syndromic features, two explicable by additional variants in other genes (SLC12A2 and DDX3X). In two families initially showing incomplete penetrance, re-examination of apparently unaffected carrier individuals revealed subtle ocular colobomatous phenotypes. Finally, we report two families with microphthalmia in addition to coloboma, representing the second and third reported cases of this phenotype in conjunction with FZD5 variants. CONCLUSIONS: Our findings indicate FZD5 variants are typically associated with isolated ocular coloboma, occasionally microphthalmia, and that extraocular phenotypes are likely to be explained by other gene alterations.
Subject(s)
Anophthalmos , Coloboma , Microphthalmos , Humans , Microphthalmos/genetics , Coloboma/diagnosis , Coloboma/genetics , Eye , Anophthalmos/genetics , Phenotype , Frizzled Receptors/genetics , Solute Carrier Family 12, Member 2/geneticsABSTRACT
We present a technique for the surgical correction of aphakia that allows intrascleral fixation of a posterior chamber intraocular lens (IOL) without sutures. The technique is useful in situations in which one haptic has to be fixated and capsule support is adequate for fixation of the second haptic. The haptic is externalized with a 25-gauge needle; no surgical instrumentation other than that needed for conventional cataract surgery is used. The technique is particularly appropriate for 3-piece IOLs with flexible haptics.
