Posterior vitreous detachment following intravitreal drug injection.

BACKGROUND: To evaluate the incidence of posterior vitreous detachment (PVD) induced by intravitreal injection of different intravitreal drugs. METHODS: This prospective observational study included 61 patients (61 eyes) with different underlying retinal diseases: exudative age-related macular degeneration (n = 47), cystoid macular edema (CME) after retinal vein occlusion (n = 8), and CME of other origin (n = 6). Bevazicumab (1.25 mg) was injected into 25 eyes, ranibizumab (0.5 mg) into 27 eyes, triamcinolone (4 mg) into six eyes, and a combination of bevacizumab and triamcinolone into three eyes. Patients with initial PVD were excluded. Patients were followed for at least 4-6 weeks after their last injection by Fourier-domain OCT, fundus biomicroscopy and ultrasound B-examination. RESULTS: Overall, 15 of 61 eyes developed a PVD after intravitreal injection (n = 6 after ranibizumab, n = 7 after bevacizumab and n = 2 after triamcinolon) within a mean follow-up period of 11.1 weeks. PVD occurred in three eyes after the first injection, in three eyes after the second, and in seven eyes after the third injection. Incidence of PVD correlated with increasing age. CONCLUSION: Intravitreal injection of commonly-used drugs seems to induce posterior vitreous detachment, which may thus influence the outcome of the underlying disease.

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.

PURPOSE: The goal of this study was to identify mutations in X-chromosomal genes associated with retinitis pigmentosa (RP) in patients from Germany, The Netherlands, Denmark, and Switzerland. METHODS: In addition to all coding exons of RP2, exons 1 through 15, 9a, ORF15, 15a and 15b of RPGR were screened for mutations. PCR products were amplified from genomic DNA extracted from blood samples and analyzed by direct sequencing. In one family with apparently dominant inheritance of RP, linkage analysis identified an interval on the X chromosome containing RPGR, and mutation screening revealed a pathogenic variant in this gene. Patients of this family were examined clinically and by X-inactivation studies. RESULTS: This study included 141 RP families with possible X-chromosomal inheritance. In total, we identified 46 families with pathogenic sequence alterations in RPGR and RP2, of which 17 mutations have not been described previously. Two of the novel mutations represent the most 3'-terminal pathogenic sequence variants in RPGR and RP2 reported to date. In exon ORF15 of RPGR, we found eight novel and 14 known mutations. All lead to a disruption of open reading frame. Of the families with suggested X-chromosomal inheritance, 35% showed mutations in ORF15. In addition, we found five novel mutations in other exons of RPGR and four in RP2. Deletions in ORF15 of RPGR were identified in three families in which female carriers showed variable manifestation of the phenotype. Furthermore, an ORF15 mutation was found in an RP patient who additionally carries a 6.4 kbp deletion downstream of the coding region of exon ORF15. We did not identify mutations in 39 sporadic male cases from Switzerland. CONCLUSIONS: RPGR mutations were confirmed to be the most frequent cause of RP in families with an X-chromosomal inheritance pattern. We propose a screening strategy to provide molecular diagnostics in these families.