Human papillomavirus (HPV)-associated trilateral squamous neoplasia in immunocompetent individual.

PURPOSE: To describe a case of bilateral conjunctival and cervical human papillomavirus (HPV)-related squamous neoplasia. CASE DESCRIPTION: A healthy immunocompetent 55-year-old lady came to our attention for prosecution of care of a right recurrent conjunctival squamous cell carcinoma. Upon examination, she was found disease-free in the right eye but displayed a left conjunctival intraepithelial neoplasia (CIN grade I) and low-grade cervical squamous dysplasia. HPV infection with genotypes 16 (right eye), 11 and 39 (left eye) and 39 (uterine cervix) was also detected. CONCLUSION: Simultaneous uterine and conjunctival HPV-related squamous neoplasia can occur in immunocompetent individuals. Auto-inoculation and repeated exposure to HPV could explain coexistence of different genotypes.

Evaluation of refraction in a statistically significant sample: changes according to age and strabismus.

PURPOSE: To assess possible refractive changes according to age and strabismus in a statistically significant cohort. METHODS: A population-based sample of 12,534 subjects 0.5 to 20 years old, examined between 2004 and 2006, was tested. Each subject received a complete orthoptic examination, including spherocylindrical streak retinoscopy in cycloplegia. Patients were divided into those with orthophoria (7,784) and those with strabismus (4,750), and the latter group was further divided into those with esodeviation (3,026) and those with exodeviation (1,724). A statistical analysis of the spherical equivalent, astigmatism, and anisometropia was performed with an independent samples t test or one-way analysis of variance. RESULTS: The percentage of patients with a mean spherical equivalent within +/- 1 and +/- 2 standard deviations was greater than 68% and 95%, respectively. The mean spherical equivalent of the total sample was 1.62 diopters (D) (+/- 2.88). The mean spherical equivalent was 1.10 +/- 2.94 D in the orthophoria group, 3.22 +/- 2.29 D in the esodeviation group, and 1.13 +/- 2.50 D in the exodeviation group (one-way analysis of variance; P = .000). Age-related changes in the mean spherical equivalent showed a clear and steady myopic shift, reaching mean myopic refraction at 12 to 14 years in both the total sample and the orthophoria and exodeviation groups. It assumed a more constant trend, with no myopic swing, in the esodeviation group (P = .000). Mean astigmatism was less in patients with less than 1.00 D anisometropia (0.83 +/- 0.92 D) than in those with 1.00 D or greater anisometropia (1.42 +/- 1.18 D) (t test; P = .0001). CONCLUSION: Both the age-related trend in the spherical equivalent and the high hyperopic values of the distribution peak in patients with esodeviation confirm the importance of the hypermetropic refractive component. The statistically significantly higher incidence of astigmatism in patients with 1.00 D or greater ametropia highlights its incidence in amblyopia.

Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.

To assess the clinical utility of targeted Next-Generation Sequencing (NGS) for the diagnosis of Inherited Retinal Dystrophies (IRDs), a total of 109 subjects were enrolled in the study, including 88 IRD affected probands and 21 healthy relatives. Clinical diagnoses included Retinitis Pigmentosa (RP), Leber Congenital Amaurosis (LCA), Stargardt Disease (STGD), Best Macular Dystrophy (BMD), Usher Syndrome (USH), and other IRDs with undefined clinical diagnosis. Participants underwent a complete ophthalmologic examination followed by genetic counseling. A custom AmpliSeq™ panel of 72 IRD-related genes was designed for the analysis and tested using Ion semiconductor Next-Generation Sequencing (NGS). Potential disease-causing mutations were identified in 59.1% of probands, comprising mutations in 16 genes. The highest diagnostic yields were achieved for BMD, LCA, USH, and STGD patients, whereas RP confirmed its high genetic heterogeneity. Causative mutations were identified in 17.6% of probands with undefined diagnosis. Revision of the initial diagnosis was performed for 9.6% of genetically diagnosed patients. This study demonstrates that NGS represents a comprehensive cost-effective approach for IRDs molecular diagnosis. The identification of the genetic alterations underlying the phenotype enabled the clinicians to achieve a more accurate diagnosis. The results emphasize the importance of molecular diagnosis coupled with clinic information to unravel the extensive phenotypic heterogeneity of these diseases.

Long-term analysis of IOL stability of the Lewis technique for scleral fixation.

PURPOSE: To demonstrate that in case of absence of capsular support intraocular lens (IOL) scleral fixation is both effective and stable over years. METHODS: A total of 13 eyes from 13 patients who underwent an IOL scleral fixation according to Lewis suturing technique between January 2001 and December 2008 were studied. Patients underwent a complete ophthalmologic evaluation. The IOL stability was assessed using slit-lamp and anterior segment optical coherence tomography (AS-OCT) examination. The IOL stability was evaluated in terms of centration and tilting. All the knots were photographed and their integrity assessed. RESULTS: Follow-up was 60-129 months. Eleven knots appeared evident and undamaged, 6 knots were eroded, and 9 knots were not detectable. All IOLs were stable in the sulcus. Two patients presented a slight decentration of the IOL at the slit-lamp examination, while the AS-OCT demonstrated slight tilting of the lenses in 4 patients. CONCLUSIONS: The Lewis technique for IOL scleral fixation is an optimal surgical technique in case of absence of capsular support. No IOL luxation in the vitreous chamber has been reported; only 2 of the 10 patients with at least one eroded knot presented a minimal decentration of the lens with no influence on visual acuity. Although knot erosion is not an uncommon occurrence, IOL remains stable in the long term, probably due to a fibrotic process around the suture, and the IOL haptics, which prevent IOL dislocation.