Antonio Laborante

Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive loci.

PURPOSE Keratoconus (KC) is the most common indication for corneal transplantation in the Western world, with etiologic mechanisms still poorly understood. The disease prevalence in the general population is approximately 1:2000, and familial aggregation, together with increased familial risk, suggests important genetic influences on its pathogenesis. To date, several loci for familial keratoconus have been described, without the identification of any responsible gene in the respective mapped intervals. The aim of this study was to identify causative/susceptibility genes for keratoconus. METHODS A total of 133 individuals (77 affected and 59 unaffected) of 25 families from southern Italy were genotyped using microsatellite markers and included in a genome-wide scan. Nonparametric and parametric analysis using an affected-only strategy were calculated by using genetic algorithm software. RESULTS The chromosomal regions 5q32-q33, 5q21.2, 14q11.2, 15q2.32 exhibited the strongest evidence of linkage by nonparametric analysis (NPL = 3.22, 2.73, 2.62, and 2.32, respectively). The regions 5q32-q33 and 14q11.2 were also supported by multipoint parametric analysis, for which heterogeneity LOD (HLOD) scores of 2.45 (alpha = 0.54) and 2.09 (alpha = 0.46), respectively, were obtained under an affected-only dominant model. CONCLUSIONS This study represents the first KC linkage replication study on the chromosomal region 5q21.2 and reports evidence of suggestive linkage in several regions for which suggestive or significant linkage has been previously detected in different populations.

Comparison of corneal aberration changes after laser in situ keratomileusis performed with mechanical microkeratome and IntraLase femtosecond laser: 1-year follow-up.

Purpose: To compare corneal aberration changes 1 year after myopic laser in situ keratomileusis (LASIK) performed with a mechanical microkeratome and IntraLase femtosecond laser. Methods: Twenty four eyes of 15 patients underwent LASIK with the Hansatome microkeratome, and 23 eyes of 13 patients underwent LASIK with the IntraLase femtosecond laser. A standard ablation was performed with the Bausch & Lomb Technolas 217 excimer laser. Topography data were used to calculate corneal aberrations with a 3.0 mm and 5.00 mm pupil, before and 12 months after surgery. The increasing factor (IF), defined as the ratio between the postoperative and preoperative mean value of the optical aberration, was calculated. The method of Mulhern et al was used to evaluate the centration of ablation. The comalike aberration was correlated with the decentration of ablation. The Student t test was used for the statistical anaylsis. Results: The postoperative mean decentration of ablation was <0.5 mm. The comalike aberration appeared to be positively correlated with the decentration of ablation in both groups with a 5.0-mm pupil (P < 0.05). With a 3.00-mm pupil, the comalike aberration changed in the Hansatome group, whereas with a 5.00-mm pupil, all aberrations statistically significantly changed in both groups (P < 0.05). The IF similarly increased in 2 groups for spherical-like aberration, whereas IF greatly increased for total and comalike aberrations in the Hansatome group. Conclusions: Wavefront corneal aberrations change significantly 1 year after myopic LASIK performed with the Hansatome microkeratome as well as with IntraLase femtosecond lasers. Both of the procedures induce higher-order aberrations in the anterior corneal surface, but the amount of comalike aberration increases more with the Hansatome mechanical microkeratome.

Standardized big-bubble technique in deep anterior lamellar keratoplasty assisted by the femtosecond laser

&NA; We describe a variant of the big‐bubble technique in deep anterior lamellar keratoplasty (DALK) assisted by the IntraLase femtosecond laser, which we call IntraBubble. The use of the 60 kHz IntraLase femtosecond laser allows dissection of the pre‐Descemet‐plane lamella to a predefined corneal depth and creation of a channel in the posterior stroma 50 μm above the endothelium into which a smooth cannula for air injection can be introduced. We lengthened the channel created by the laser using a pointed dissector. Eleven consecutive patients with keratoconus were treated, and all procedures were completed as DALK. The big bubble was achieved in 8 eyes (73%). In 3 cases (27%), intraoperative microperforations occurred and the procedures were completed with hand dissection without complications. This new application of femtosecond laser technology could lead to standardization of the big‐bubble technique in DALK. Financial Disclosure: No author has a financial or proprietary interest in any material or method mentioned.

Arcuate keratotomy for high postoperative keratoplasty astigmatism performed with the intralase femtosecond laser

PURPOSE To evaluate the refractive and keratometric effect of arcuate keratotomy performed using the IntraLase femtosecond laser (Abbott Medical Optics) in patients with high postoperative keratoplasty astigmatism. METHODS Nine eyes of nine patients (mean age 45 +/- 7.5 years; mean spherical equivalent refraction -2.50 +/- 3.60 diopters [D]) who had undergone a penetrating keratoplasty were considered. The subjective refraction was measured, and corneal thickness and keratometric parameters were calculated by the Pentacam (Oculus Optikgeräte). All uncomplicated surgeries were performed with the IntraLase femtosecond laser. Paired 70 degrees arc length incisions were performed at 80% depth of the corneal thickness. The mean optical zone was 5.9 mm. The side cut was 90 degrees. All incisions were performed in the graft itself. Mean change in best spectacle-corrected visual acuity (BSCVA), refractive and keratometric astigmatism, and spherical equivalent refraction was evaluated. Follow-up was 3 months. Refractive and keratometric data were analyzed using vector analysis as described by Alpins. A paired Student t test was used to compare preoperative and 3-month postoperative data. A P value <.05 was considered significant. RESULTS Mean preoperative BSCVA was 20/30, increasing to 20/25 postoperatively (P > .05). The mean refractive astigmatism decreased by 6.00 D (P < .05), whereas the mean keratometric value decreased by 4.60 D (P < .05). The mean spherical equivalent refraction did not change significantly. The surgical vectors in the refractive and keratometric analysis were calculated, showing good predictability. CONCLUSIONS Arcuate keratotomy performed with the IntraLase femtosecond laser could be an effective, safe, and relatively predictable treatment of high postoperative keratoplasty astigmatism.

Refractive outcome of keratoconus treated by combined femtosecond laser and big-bubble deep anterior lamellar keratoplasty.

PURPOSE To report 1-year follow-up in 11 of 13 eyes with keratoconus treated by deep anterior lamellar keratoplasty with a combined femtosecond laser lamellar resection followed by a big-bubble dissection. METHODS Thirteen eyes with keratoconus were treated. Recipient and donor were prepared with the 60-kHz IntraLase femtosecond laser (Abbott Medical Optics). In the recipient, the femtosecond laser, after performing a lamellar cut 100 μm above the thinnest corneal point (measured by Pentacam [Oculus Optikgeräte GmbH]), was used to make a mushroom-shaped resection (anterior diameter, 9 mm; posterior diameter, 8 mm) from the same depth. In the donor, the mushroom lamellar thickness was calculated according to an original model based on the recipient preoperative corneal thickness. Upon removal of the recipient lamella, air was injected into the residual stroma to achieve a big bubble. The keratectomy was continued up to Descemet membrane. The donor was fit into place and sutured using interrupted sutures, which were removed by 8 months postoperative. Corrected distance visual acuity (CDVA) and refractive astigmatism were calculated by manifest refraction, whereas topographic astigmatism and corneal thickness were measured by Pentacam. RESULTS A big bubble was successfully achieved in 11 eyes. Twelve months after surgery, mean CDVA was 0.52±1.2 (decimal), and refractive sphere and cylinder were -1.50±1.70 diopters (D) and 2.00±2.60 D, respectively. Three (27%) of 11 eyes at 1 year had a manifest refraction spherical equivalent within 1.00 D of emmetropia. Topographic astigmatism was 2.90±1.60 D. The thinnest corneal point was 519±27 μm. CONCLUSIONS This combination of a femtosecond laser lamellar dissection with a big-bubble technique can improve the standardization of deep anterior lamellar keratoplasty for keratoconus.

Anterior Lamellar Keratoplasty Assisted by Intralase™ Femtosecond Laser in a Pediatric Patient

A 14-year-old boy affected by keratoconus underwent an anterior lamellar keratoplasty assisted by IntraLase femtosecond laser (Abbott Medical Optics, Abbott Park, IL). Results after 2 years of follow-up indicate the procedure may be safe and effective in pediatric patients.

Corneal iontophoresis and cross linking: a preliminary report of our experience.

PURPOSE To evaluate the effect induced by UVA radiation with corneal iontophoresis and cross-linking. MATERIALS AND METHODS From February 2013 to August 2014 we saw 15 eyes of 15 patients, age range 19-38 years (10 women and 5 men) keratoconus stage 1-2. Vision evaluation was carried out with ETDRS scale and Topography and Pachymetry. To evaluate line of demarcation with the confocal microscope and corneal optical coherence tomography (OCT) and the pain with the Faces Pain Scale. RESULTS At 6 months there was a stabilization of vision and topography, with a slight improvement at 1 year of vision of 1 line and of the Km of 0.5 diopters. The in vivo microscopic examination with the confocal microscope showed that the line of demarcation was not particularly evident, it was irregular and when present was more evident at 150-200 µ depth, there was a keratinocyte activation in the anterior stroma with slight oedema. There were also superficial epithelial alterations present and only slight involvement of the subepithelial nervous plexus, there were no alterations of the endothelium. The Faces Pain Scale the pain score was 2±1. We have to stress the usefulness of Corneal optical coherence tomography (OCT) also pre and post iontophoretic treatment. CONCLUSIONS Further, larger studies and longer follow-ups are needed, recent studies have shown the absorption of riboflavin with iontophoresis is 50% with respect to the classic technique, the percentage of riboflavin in the anterior 2/3 of the corneal stroma would be, however, efficacious to provide good results.

Von Hippel-Lindau disease: when neurosurgery meets nephrology, ophthalmology and genetics

INTRODUCTION Von Hippel-Lindau (VHL) disease is a dominantly inherited condition associated with tumors in multiple organs, whose treatment requires heightened multidisciplinary teamwork. Therefore, a document summarizing all the pertinent knowledge is needed to enhance coordination of care. EVIDENCE ACQUISITION A systematic review of the literature from the Medline, Embase and Cochrane Central databases was performed. From 1970 to 2017, all articles meeting specific inclusion criteria were included by at least one specialist physician for each field. EVIDENCE SYNTHESIS We included 95 articles, mostly dealing with genetics or management of VHL associated tumors in one organ system. There were no papers discussing the manifestations of VHL altogether, which was the aim of our paper. CONCLUSIONS VHL requires a multidisciplinary management to provide the highest quality of care. Coordination and communication between patients and caregivers is enhanced when knowledge is shared. Gathering together specialists in different domains around the production and reading of a comprehensive document such as the one hereby may contribute to this purpose.

Primitive eyelid Merkel carcinoma.

Primitive Merkel Cell Carcinoma (MCC) of the eyelid is a malign cutaneous neuro-endocrine tumour that originates in Merkel cells; which are situated along the border of the eyelid between the eyelashes. It is a rare, very aggressive and metastasising tumour. The histo-pathological diagnosis may require an immuno-histochemical and ultrastructural analysis. The authors describe the clinical case of a 65-year-old woman with palpebral MCC that appeared suddenly over a period of three months. The correct therapeutic strategy for Merkel cell cancer is a radical, aggressive and early removal of the tumour at its initial stage, in order to reduce the risk of a distant recurrence and to improve the survival rate. The tumour must be resected with a broad safety margin and radiotherapy may be required post surgery.

Endoscopic laser-assisted dacryocistorhinostomy DCR with the placement of a customised silicone and Teflon bicanalicular stent Endoscopic laser-assisted dacryocystorhinostomy (DCR).

INTRODUCTION We present our experience in endoscopic laser assisted dacryocystorhinostomy (DCR) analyzing the results obtained with a new technique that involves placing bicanalicolar silicone stent more Teflon tube, in combination with paraseptal silastic sheet. MATERIALS AND METHODS In our study 49 of 57 patients (85%) at a mean follow up of at least 12 months have not reported epiphora or more episodes of acute dacryocystitis. RESULTS 49 out of the 57 patients (85%) in our group reported no additional epiphora or episodes of acute dacryocystitis. CONCLUSIONS Endoscopic DCR is currently the gold standard for sac and post-sac stenosis given the minimal invasiveness of the procedure and the long-term results that appear comparable to those obtained with extrinsic DCR. The principal problem is cicatricial stenosis that can occlude the stoma over time.