Vector Analysis of Femtosecond Laser-Assisted Arcuate Keratotomy for Post-Keratoplasty Astigmatic Correction.

PURPOSE: To study the astigmatic correction of high post-keratoplasty astigmatism using Femtosecond laser (FSL)-assisted Arcuate Keratotomy (FS-AK). METHODS: A prospective interventional cohort study. We enrolled 17 eyes with high degree of irregular astigmatism, scheduled for FS-AK. FSL was used to perform paired arcuate incisions 1.00 mm inside the graft. Patients' uncorrected visual acuity (UCVA), best corrected visual acuity (BCVA), and astigmatic change were recorded and followed up to 1 year after surgery. Vector analysis using Alpins' method was done to analyze the astigmatic correction. RESULTS: FS-AK reduced the refractive astigmatism at final follow-up visit at 12 months (p = 0.0008, repeated-measures analysis of variance [ANOVA]). The procedure improved the UCVA over the follow-up period (p = 0.007, repeated-measures ANOVA), with a similar effect on the BCVA (p = 0.046, repeated-measures ANOVA). There was a mild correlation between the target-induced astigmatism and the surgically induced astigmatism (R2 = 0.245) with a tendency to overcorrect more than under correct the astigmatism. A constant rotational error in the counterclockwise direction was also detected. CONCLUSIONS: FS-AK improves the visual outcome and reduces the refractive cylinder in post-penetrating keratoplasty astigmatism. The predictability of astigmatism correction was variable in reducing post-keratoplasty astigmatism. Refinement of the treatment nomogram for such cases is highly recommended.

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

Pre-mRNA splicing factors play a fundamental role in regulating transcript diversity both temporally and spatially. Genetic defects in several spliceosome components have been linked to a set of non-overlapping spliceosomopathy phenotypes in humans, among which skeletal developmental defects and non-syndromic retinitis pigmentosa (RP) are frequent findings. Here we report that defects in spliceosome-associated protein CWC27 are associated with a spectrum of disease phenotypes ranging from isolated RP to severe syndromic forms. By whole-exome sequencing, recessive protein-truncating mutations in CWC27 were found in seven unrelated families that show a range of clinical phenotypes, including retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurological defects. Remarkably, variable expressivity of the human phenotype can be recapitulated in Cwc27 mutant mouse models, with significant embryonic lethality and severe phenotypes in the complete knockout mice while mice with a partial loss-of-function allele mimic the isolated retinal degeneration phenotype. Our study describes a retinal dystrophy-related phenotype spectrum as well as its genetic etiology and highlights the complexity of the spliceosomal gene network.