No abstract

Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.

Surgeons starting to perform Descemet membrane endothelial keratoplasty (DMEK) should be informed about the learning curve and experience of others. OBJECTIVE To document the clinical outcome of standardized "no-touch" DMEK and its complications during the learning curves of experienced surgeons. DESIGN, SETTING, AND PARTICIPANTS Retrospective multicenter study. A total of 431 eyes from 401 patients with Fuchs endothelial dystrophy (68.2%) and bullous keratopathy (31.8%) underwent DMEK performed by 18 surgeons in 11 countries. EXPOSURES Descemet membrane endothelial keratoplasty. MAIN OUTCOMES AND MEASURES Best-corrected visual acuity (BCVA), endothelial cell density, and intraoperative and postoperative complications. RESULTS Of 275 eyes available for BCVA pooled analysis, BCVA improved in 258 eyes (93.8%), remained unchanged in 12 (4.4%), and deteriorated in 5 (1.8%). Two hundred seventeen eyes (78.9%) reached a BCVA of at least 20/40 (Ն0.5), 117 (42.5%) at least 20/25 (Ն0.8), and 61 (22.2%) at least 20/20 (Ն1.0). Eyes with at least 6 months of follow-up (n = 176) reached similar BCVA outcomes. Mean (SD) decrease in endothelial cell density at 6 months was 47% (20%) (n = 133 [P = .02]). Intraoperative complications were rare, including difficulties in inserting, unfolding, or positioning of the graft (1.2%) and intraoperative hemorrhage (0.5%). The main postoperative complication was graft detachment (34.6%); 20.4% underwent a single rebubbling procedure, occasionally requiring a second (2.6%) and a third rebubbling (0.7%), and 17.6% underwent a second keratoplasty.CONCLUSIONS AND RELEVANCE Our multicenter study showed that the standardized no-touch DMEK technique was feasible in most hands. The main challenges for surgeons starting to perform the procedure may be (1) to decide whether graft preparation is outsourced or performed during surgery, (2) to limit the number of graft detachments and secondary procedures, and (3) to obtain organ cultured donor corneal tissue.

This case series shows that DMEK by a beginning surgeon can achieve good results without preparing the graft in an eye bank. Use of backup tissue can be avoided by strictly adhering to the Netherlands Institute for Innovative Ocular Surgery techniques and by harvesting the graft the day before surgery to avoid last-minute cancellation.