Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata.

Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the hydrolytic enzyme α-galactosidase A (α-Gal-A). It is characterized by progressive lysosomal accumulation of globotriaosylceramide (Gb3) and multisystem pathology, affecting the skin, nervous and cerebrovascular systems, kidneys, and heart. Heterozygous females typically exhibit milder symptoms and a later age of onset than males. Rarely, they may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. We report on a 17-year-old female in whom cornea verticillata was found during a routine ophthalmological examination but with no other clinical symptoms. Leucocyte α-galactosidase activity was within the overlap range between Fabry heterozygotes and normal controls. Sanger sequencing of the GLA gene failed to reveal any pathogenic variants. Multiplex Ligation-dependent Probe Amplification (MLPA) analysis revealed a deletion of exon 7. Using a long-range PCR walking approach, we managed to identify the deletion breakpoints. The deletion spans 1182 bp, with its 5' end located within exon 6 of the GLA gene and its 3' end located 612 bp downstream of exon 7. This finding represents a novel deletion identified in the first reported Cypriot female carrier of Fabry disease.

Unintended epithelium-only flap creation using a femtosecond laser during LASIK.

PURPOSE: to present a patient in whom, during LASIK with the IntraLase femtosecond laser (Abbott Medical Optics), unintended epithelial (instead of anterior stromal) flaps were created in both eyes. METHODS: a 28-year-old man underwent bilateral LASIK using the IntraLase femtosecond laser programmed to create 100-microm flaps. Flap creation was performed uneventfully in both eyes but flap thickness was thinner than attempted. The flaps were easily torn during flap lift because they appeared to consist of epithelium only. Therefore, the procedure was immediately converted to photorefractive keratectomy with the use of mitomycin C. RESULTS: re-epithelialization occurred 3 days after the procedure in both eyes. Three months after treatment, uncorrected distance visual acuity was 20/25 in the right eye and 20/20 in the left eye with no signs of corneal haze on slit-lamp examination. CONCLUSIONS: despite the advantages of the IntraLase femtosecond laser in the creation of a LASIK flap, complications in terms of flap thickness may occur.

Interface corneal stromal irregularities after flap creation using femtosecond laser.

PURPOSE: To report a case of interface corneal stromal irregularities after flap creation with the advanced IntraLase femtosecond (150 Hz) laser system (Abbott Medical Optics, Inc.). METHODS: Case report. RESULTS: An 18-year-old man underwent bilateral laser in situ keratomileusis (LASIK) using the IntraLase femtosecond laser to create 110-µm flaps. The procedure was uneventful in the left eye. In the right eye, after flap lifting a central irregular stromal interface was noted. The created flap was thicker than expected (139 µm) as measured intraoperatively with ultrasound pachymetry. The excimer laser ablation procedure was performed and the flap was repositioned. On the first postoperative day and during the 6-month follow-up period, uncorrected distance visual acuity was 20/20 in both eyes. CONCLUSIONS: Interface corneal stromal irregularities may occur after femtosecond corneal flap creation during LASIK.

Photorefractive keratectomy followed by same-day corneal collagen crosslinking after intrastromal corneal ring segment implantation for pellucid marginal degeneration.

A 28-year-old man with progressive pellucid marginal degeneration (PMD) had photorefractive keratectomy (PRK) followed by same-day corneal collagen crosslinking (CXL) for progressive PMD 12 months after intrastromal corneal ring segment implantation (Intacs). No intraoperative or early postoperative complications occurred. Nine months postoperatively, the uncorrected distance visual acuity improved from finger counting to 20/63 and the corrected distance visual acuity improved from 20/40 to 20/25. Corneal topography revealed a significant improvement in keratometry (from 46.73/38.67 to 44.92/39.01), which remained stable during the 9-month follow-up period. Despite the encouraging results, longer follow-up is necessary to evaluate the outcomes of this approach.

Posterior linear stromal haze formation after simultaneous photorefractive keratectomy followed by corneal collagen cross-linking.

PURPOSE: To report the development of posterior linear stromal haze after simultaneous photorefractive keratectomy (PRK) followed by corneal collagen cross-linking (CXL). METHODS: Combined simultaneous customized PRK followed by corneal collagen cross-linking was performed in 23 patients (28 eyes) with keratoconus. Corneas were examined biomicroscopically and by means of confocal microscopy before surgery and 1, 3, 6, 9, and 12 months after surgery. RESULTS: Posterior linear stromal haze was observed clinically (slit lamp biomicroscopy) one month after surgery in 13 of 28 eyes (46.42%). No corneal edema or anterior haze formation was evident. Confocal microscopy revealed in those 13 eyes a hyperreflective area at the level of the posterior stroma 1 month after combined treatment. Both slit lamp examination and corneal confocal microscopy follow-up demonstrated a gradual anterior movement and a decrease in reflectance of this finding. At 12 months this posterior linear stromal haze, despite its anterior movement and decreased density, did not completely disappear at slit lamp and confocal microscopy analysis. CONCLUSIONS: Posterior linear stromal haze formation may appear after simultaneous PRK followed by CXL in patients with keratoconus. This finding seems to gradually become less dense and slowly moves toward the anterior stroma.

LASIK flap buttonhole treated immediately by PRK with mitomycin C.

PURPOSE: To describe the visual outcomes of three patients who had LASIK flap buttonhole and were treated immediately with photorefractive keratectomy (PRK) and topical mitomycin C (MMC) 0.02%. METHODS: Three patients underwent bilateral LASIK with the SCHWIND Carriazo-Pendula 90 microm head microkeratome. In all three cases, a buttonhole flap occurred in the left eye. The flap was repositioned and phototherapeutic keratectomy for 50 microm was used for epithelial removal while immediate PRK with MMC was performed to treat the buttonhole flap. RESULTS: Three months after the procedure, uncorrected distance visual acuity and corrected distance visual acuity were 20/20 with regular topographic findings. CONCLUSIONS: Using PRK with MCC immediately after the occurrence of the LASIK flap buttonhole may be an effective treatment.