Femtosecond Laser and Big-Bubble Deep Anterior Lamellar Keratoplasty: A New Chance

Purpose. To report the 12-month follow-up after big-bubble deep anterior lamellar keratoplasty (DALK) assisted by femtosecond laser that we have called IntraBubble. Methods. A 60 kHz IntraLase femtosecond laser (Abbott Medical Optics) firstly created a 30° angled intrastromal channel to insert the air injection cannula, 50 μ above the thinnest corneal site measured by Sirius Scheimpflug camera (CSO, Firenze, Italy), then performed a full lamellar cut 100 μ above the thinnest corneal point, and from the same corneal depth, created a mushroom incision. The lamella was removed, and the smooth cannula of Fogla was inserted into the stromal channel and air was injected to achieve a big bubble. The follow up is 12 months, and sutures were removed by the 10th postoperative month in all patients. Best Corrected Visual Acuity (BCVA), spherical equivalent and, by Sirius Scheimpflug camera (CSO, Firenze, Italy) keratometric astigmatism were evaluated. Results. All procedures were completed as DALK except 2 converted to PK because an inadvertent intraoperative macroperforation occurred. Mean postoperative BCVA was 0.8, mean spherical equivalent was -3.5 ± 1.7 D, and mean keratometric astigmatism was 4.8 ± 3.1 D. Conclusion. The femtosecond laser could standardize the big-bubble technique in DALK, reducing the risk of intraoperative complications and allowing good refractive outcomes

Combined HLA matched limbal stem cells allograft with amniotic membrane transplantation as a prophylactic surgical procedure to prevent corneal graft rejection after penetrating keratoplasty: case report

Purpose. To determine if the use of combined HLA matched limbal stem cells allograft  with  amniotic  membrane  transplantation  (AMT)  is  a  safe  and  effective  prophylactic  surgical procedure to prevent corneal graft after penetrating keratoplasty (PK).Methods.  We  report  the  case  of  a  17  years  old  patient  with  a  history  of  congenital  glaucoma, trabeculectomy and multiple corneal graft rejections, presenting total limbal  cell deficiency. To reduce the possibility of graft rejection in the left eye after a new PK,  a two step procedure was performed. At first the patient underwent a combined HLA  matched limbal stem cells allograft (LAT) and AMT and then, 10 months later, a new  PK.Results. During 12 months of follow-up, the corneal graft remained stable and smooth,  with no sign of graft rejection.Conclusions. In our patient, the prophylactic use of LAT from HLA-matched donors  and AMT before PK, may result in a better prognosis of corneal graft survival.   

Correction to: Translational immune correlates of indirect antibody immunization in a randomized phase II study using scheduled combination therapy with carboplatin/paclitaxel plus oregovomab in ovarian cancer patients

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Mutation profile of BBS genes in patients with Bardet-Biedl syndrome : An Italian study

Background: Bardet-Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is currently no treatment for BBS, but some morbidities can be managed. Accurate molecular diagnosis is often crucial for the definition of appropriate patient management and for the development of a potential personalized therapy. Methods: We developed a next-generation-sequencing (NGS) protocol for the screening of the 18 most frequently mutated genes to define the genotype and clarify the mutation spectrum of a cohort of 20 BBS Italian patients. Results: We defined the causative variants in 60% of patients; four of those are novel. 33% of patients also harboured variants in additional gene/s, suggesting possible oligogenic inheritance. To explore the function of different genes, we looked for correlations between genotype and phenotype in our cohort. Hypogonadism was more frequently detected in patients with variants in BBSome proteins, while renal abnormalities in patients with variations in BBSome chaperonin genes. Conclusions: NGS is a powerful tool that can help understanding BBS patients' phenotype through the identification of mutations that could explain differences in phenotype severity and could provide insights for the development of targeted therapy. Furthermore, our results support the existence of additional BBS loci yet to be identified

Genotype-phenotype characterization of novel variants in six Italian patients with familial exudative vitreoretinopathy

Familial exudative vitreoretinopathy (FEVR) is a complex disorder characterized by incomplete development of the retinal vasculature. Here, we report the results obtained on the spectrum of genetic variations and correlated phenotypes found in a cohort of Italian FEVR patients. Eight probands (age range 7-19 years) were assessed by genetic analysis and comprehensive age-appropriate ophthalmic examination. Genetic testing investigated the genes most widely associated in literature with FEVR: FZD4, LRP5, TSPAN12, and NDP. Clinical and genetic evaluations were extended to relatives of probands positive to genetic testing. Six out of eight probands (75%) showed a genetic variation probably related to the phenotype. We identified four novel genetic variants, one variant already described in association with Norrie disease and one previously described linked to autosomal dominant FEVR. Pedigree analysis of patients led to the classification of four autosomal dominant cases of FEVR (caused by FZD4 and TSPAN12 variants) and two X-linked FEVR probands (NDP variants). None of the patients showed variants in the LRP5 gene. This study represents the largest cohort study in Italian FEVR patients. Our findings are in agreement with the previous literature confirming that FEVR is a clinically and genetically heterogeneous retinal disorder, even when it manifests in the same family

The Changes of Posterior Corneal Surface and High-Order Aberrations after Refractive Surgery in Moderate Myopia

PURPOSE: To compare forward shift of posterior corneal surface and higher-order aberration (HOA) changes after LASIK, LASEK, and wavefront-guided LASEK surgery in moderate myopia METHODS: One hundred eighty four eyes undergoing LASIK, LASEK and wavefront-guided LASEK with VISX STAR S4 were included in this study. The posterior corneal elevation was measured with Orbscan before, 2 and 4 months after surgery. Changes of the elevation were assessed using the difference map generated from preoperative and postoperative elevation maps. The values of higher-order aberrations were evaluated preoperatively and 2 months postoperatively with Wavefront aberrometer. RESULTS: The posterior corneal surface displayed forward shift of 27.2+/-11.45 micrometer, 24.3+/-9.76 micrometer in LASIK group, 23.4+/-10.5 micrometer, 23.6+/10.55 micrometer in LASEK group, 24.0+/-14.95 micrometer, 28.4+/-14.72 micrometer in wavefront-guided LASEK group at 2 months and 4 months, respectively. There were no statistically significant differences among those three groups, and between 2 and 4 months. The root mean score (RMS) of HOA was increased after LASIK and LASEK (p=0.000, p=0.000, respectively). The mean change of HOA-RMS was significantly smaller in wavefront-guided LASEK than LASIK or LASEK (p=0.000, p=0.000, respectively, Bonferroni-corrected). CONCLUSIONS: The changes of posterior corneal surface forward shift showed no difference among LASIK, LASEK and wavefront-guided LASEK in moderate myopia. HOAs were significantly increased after LASIK and LASEK. The changes of HOAs were significant smaller in wavefront-guided LASEK than LASIK or LASEK