UbiA prenyltransferase domain-containing protein 1 (UBIAD1) variant c.695 A > G identified in a multigenerational Japanese family with Schnyder corneal dystrophy.

PURPOSE: We aimed to identify pathogenic variations in the UbiA prenyltransferase domain-containing protein 1 (UBIAD1) gene in a Japanese family with Schnyder corneal dystrophy (SCD). STUDY DESIGN: Clinical study METHODS: Three clinically diagnosed SCD patients from a single pedigree participated. Patients 1 and 2 were 69- and 65-year-old sisters, and patient 3 was the 42-year-old daughter of patient 1. Blood samples from the patients were obtained for genetic analysis. Mutation screening of the two UBIAD1 exons was performed using polymerase chain reaction (PCR)-based DNA sequencing. RESULTS: All participants were found to be heterozygous for the pathogenic missense variation c.695 A > G (p.Asn232Ser) in exon 2 of UBIAD1. CONCLUSION: This is the first report on the pathogenic UBIAD1 variation c.695 A > G (p.Asn232Ser) in a Japanese population. SCD is a rare corneal dystrophy, and further research on additional cases will aid in the elucidation of disease mechanisms and development of therapeutic strategies.

Spontaneous Corneal Graft Reattachment Following Descemet Stripping Automated Endothelial Keratoplasty in Prone Position: A Case Report and Literature Review.

Graft detachment after Descemet stripping automated endothelial keratoplasty (DSAEK) is usually managed with air-bubbling. However, it is an invasive procedure, which can cause corneal endothelial reduction, and requires hospitalization and supine position maintenance. Only few case reports on graft reattachment in the prone position exist, and this is the first report from Japan. An 87-year-old woman presented with sudden pain in her left eye. Examination of her left eye showed a best-corrected vision of 20/50, shallow anterior chamber, cataractous lens, central corneal thickness (CCT) of 630 µm, and corneal endothelial cell count of 467 cells/mm2. She was diagnosed with left-eye bullous keratopathy due to primary angle closure, and DSAEK was performed after cataract surgery. Post-surgery, she touched her left eye due to agitation. Graft adhesion was good until postoperative day 4; however, a partial detachment was observed on day 12. She was instructed to remain in a prone position for as long as possible; on day 22, the graft was reattached, and the CCT improved to 555 µm. Since then, the graft adhesion has been maintained, and her best-corrected vision has improved to 20/30. To date, 5 cases of graft reattachment in the prone position have been reported, with reattachment observed in all cases within 10 days from the onset of detachment, including this case. Re-bubbling is an effective technique; however, it is invasive and may cause additional corneal endothelial loss. Therefore, it may be beneficial to have the patient initially attempt the prone position for reattachment.

Regular and irregular astigmatism of bullous keratopathy using Fourier harmonic analysis with anterior segment optical coherence tomography.

Bullous keratopathy (BK) is known to present with corneal edema and Descemet's folds, which can cause corneal astigmatism. However, no report quantitatively evaluated BK astigmatism by separating it into regular and irregular astigmatism. This study investigated the regular and irregular astigmatism of the anterior and posterior corneal surface with Fourier harmonic analysis and anterior segment optical coherence tomography. Preoperative data from 43 eyes of 41 BK patients who received corneal endothelial transplantation were compared with the data from 43 eyes of 43 subjects without corneal disease. Anterior and posterior cylinder power, central corneal thickness (CCT) and thinnest corneal thickness were significantly greater in BK. With Fourier harmonic analysis, BK eyes were found to have significantly larger anterior and posterior regular astigmatism, asymmetry component and higher-order irregularity. Asymmetry component and higher-order irregularity that accounted for the posterior irregular astigmatism increased as CCT increased in BK. Higher-order irregularity in the posterior cornea also positively correlated with worsening best corrected visual acuity. Subgroup analysis found significant correlations between CCT and posterior higher-order irregularity for intraocular surgery and laser iridotomy, but not Fuchs endothelial corneal dystrophy. This study has significance in that it revealed the characteristics of the corneal posterior irregular astigmatism of BK.