Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.

BACKGROUND: Mutations in CRYAA, which encodes the α-crystallin protein, are associated with a spectrum of congenital cataract-microcornea syndromes. RESULTS: In this study, we performed clinical examination and subsequent genetic analysis in two unrelated sporadic cases of different geographical origins presenting with a complex phenotype of ocular malformation. Both cases manifested bilateral microphthalmia and severe anterior segment dysgenesis, primarily characterized by congenital aphakia, microcornea, and iris hypoplasia/aniridia. NGS-based analysis revealed two novel single nucleotide variants occurring de novo and affecting the translation termination codon of the CRYAA gene, c.520T > C and c.521A > C. Both variants are predicted to elongate the C-terminal protein domain by one-third of the original length. CONCLUSIONS: Our report not only expands the mutational spectrum of CRYAA but also identifies the genetic cause of the unusual ocular phenotype described in this report.

Artificial iris-lens diaphragm in reconstructive surgery for aniridia and aphakia.

PURPOSE: To determine the efficacy and safety of surgical implantation of artificial iris-lens diaphragm in patients with anatomic or functional iris deficiencies, aphakia or cataract. SETTING: Svyatoslav Fyodorov MNTK Eye Microsurgery, Cheboksary, Russia. METHODS: Twenty eyes of 19 consecutive patients with combined iris and lens pathology of traumatic or congenital etiology were identified for an interventional noncomparative case series. The newly proposed model of an elastic iris-lens diaphragm with a colored haptic and additional support elements was implanted using various fixation approaches. RESULTS: Fifteen eyes (75%) experienced improvement in corrected visual acuities. The best spectacle-corrected visual acuity (BSCVA) in 2 eyes did not change, while the uncorrected visual acuity (UCVA) in these eyes increased. There were 3 eyes in which BSCVA deteriorated with no change or even slight improvement in UCVA. All patients were satisfied with the cosmetic results of the surgery and reported a decrease in glare and photophobia. There was 1 intraoperative complication of vitreous hemorrhage. Postoperatively, 2 cases of hyphema, 1 case of ciliochoroidal detachment, 4 eyes with exaggerated immediate postoperative reaction, and 1 eye with persistent low-grade cyclitis were observed. In 1 eye, there was persistent intraocular pressure rise. One eye showed signs of cystoid macular edema. No iris-lens diaphragm decentrations and no new or extensions of old retinal detachments were seen during the follow-up period. CONCLUSIONS: Artificial iris-lens diaphragm implantation effectively improved postoperative outcomes by correcting aphakia, reducing glare disability, and addressing cosmetic issues faced by iris-deficient, and aphakic or cataract patients. Although the iris-lens diaphragm appears to be safe, long-term results must be clarified in studies with longer follow-up and a larger patient population.