Purpose. Mutations in the systemically expressed pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 have recently been associated with autosomal dominant retinitis pigmentosa (adRP). This study was intended to identify mutations in PRPF3, PRPF8, and PRPF31 in 150 Spanish families affected by adRP, to measure the contribution of mutations in these genes to adRP in that population, and to correlate RP phenotype expression with mutations in pre-mRNA splicing-factor genes. methods. Denaturing gradient gel electrophoresis (DGGE) and direct genomic sequencing were used to evaluate the complete coding region and flanking intronic sequences of the PRPF31 gene, exon 42 of PRPF8, and exon 11 of PRPF3 for mutations in 150 unrelated index patients with adRP. Ophthalmic and electrophysiological examination of patients with RP and their relatives was performed according to preexisting protocols. results. Three nonsense mutations caused by insertion and deletion sequences and two missense mutations (Arg2310Gly) and within the stop codon of the PRPF8 gene (TGA→TTG), were detected in five unrelated heterozygous patients. Three patients were heterozygous carriers of different nonsense mutations in exon 8 of the PRPF31, gene and one Thr494Met mutation was found in exon 11 of the PRPF3 gene. Cosegregation of the mutation in PRPF8 and PRPF3 with adRP was observed. However, two nonsense mutations in PRPF31 causing adRP detected in two families showed asymptomatic carriers. conclusions. Nine mutations, six of which are novel, in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31, causing adRP have been identified in the Spanish population. Their contribution to adRP is approximately 5% after correction in relation to mutations found in other genes causing adRP. The patients carrying a mutation in the pre-mRNA splicing-factor PRPF8 gene showed a type 1 diffuse RP. The existence of asymptomatic carriers of the nonsense mutation in the PRPF31 gene suggests incomplete penetrance for these mutations in the families.

To evaluate the prevalence of Bietti's corneoretinal dystrophy (BCD) in a reference population of retinitis pigmentosa (RP), and to document the disease course clinically and angiographically by a cross-sectional approach. Two hundred seven consecutive RP patients were ascertained within a 3-year period. All patients had a complete eye examination, including fluorescein and indocyanine green angiography (FA, ICG). Blood samples were collected for electron microscopy evaluation of circulating lymphocytes of BCD patients. Six patients were diagnosed with BCD. Prevalence was 3% of nonsyndromic RP cases. Limbal corneal and intraretinal crystals were found in all cases. In the early phase of BCD, ICG revealed focal lobular areas of choriocapillary atrophy at the equator, with concomitant retinal pigment epithelium (RPE) changes at the posterior pole on FA. These lesions gradually progressed both anteriorly and posteriorly, sparing an incomplete peripapillary ring and macular island until late in the disease. Progressive sclerosis of ciliary and choroidal arteries was noted upon ICG. The presence of lysosomal crystals was documented in a subpopulation of circulating lymphocytes that seemed to increase with age. The present study is the first to assess BCD prevalence in a population of retinitis pigmentosa patients, to describe clinically and angiographically its evolution from first symptom to legal blindness, and to localize the first fundus alterations not only at the posterior pole but also at the equator.

To determine if the use of continuous anterior chamber infusion (CACI) during conventional phacoemulsification can damage the corneal structure by adding an additional hydrodynamic stress to the corneal endothelium intraoperatively and to use this option routinely in small-incision phacoemulsification to soften its learning curve. We performed a prospective, interventional, case series of patients with cataract who underwent phacoemulsification. Patients were previously classified into 2 groups based on whether CACI was used (group 2) intraoperatively or not (group 1). Pachymetry and endothelial cell (EC) density were evaluated before and after surgery, and data were compared between the 2 groups. Eyes with values of EC density less than 1000 cells/mm or showing previous corneal structural alterations were excluded from the study. Sixty-seven eyes were included in our study from September 2002 to January 2003. Group 1 included 31 eyes (mean pachymetry 520.4 microm and EC density 2883), and group 2 included 36 eyes (mean pachymetry 519.0 and EC density 2627). Multivariate analysis of postoperative data following a multiple regression model showed an increase in pachymetry for both groups at 24 hours after surgery that progressively diminished until the last visit 4 weeks postoperatively, and no statistically significant differences were found between the groups. EC density displayed an abrupt loss for both groups, especially for group 2, that reached statistical significance at day 7 after surgery (P = 0.020). EC density experienced an increase for both groups in follow-up visits, and it was not statistically different at last postoperative control (P = 0.361). : The trend in modern cataract surgery is to reduce postoperative ocular trauma, and this can be achieved by small-incision phacoemulsification. But it requires a learning curve that we believe can be softened by using some surgical maneuvers such as continuous anterior chamber infusion, which minimizes the risk for anterior chamber collapse during the intervention. Comparing postoperative pachymetry and EC density between group 1 and 2, we found that the use of CACI does not add any additional damage to corneal structures because the initial statistically significant EC loss at day 7 postoperatively has a prompt recovery in subsequent visits, and then the EC loss remains similar in both groups. Transition from conventional to bimanual phacoemulsification can be simplified by using CACI, and it does not increase postoperative corneal damage.

To describe the use of intracameral bevacizumab (ICB) Avastin in neovascular glaucoma (NVG) as the first maneuver before pan retinal photocoagulation and/or filtering surgery. Between June 2006 and May 2007, 6 consecutive patients with NVG underwent intracameral injection of bevacizumab (1.25 mg/0.05 mL) as the initial treatment of NVG. Pre-ICB and post-ICB anterior segment photography, iris fluoresceingraphy when possible, gonioscopy with peripheral anterior synechiae (PAS), neovascular membrane (NVM) extension grading, as well as intraocular pressure (IOP) changes during treatment were recorded. All patients were followed for at least 7 months. ICB resulted in a marked regression of anterior segment neovascularization with IOP control without filtering surgery in 2 cases. When PAS extended <330 degrees without previous glaucoma, no filtering surgery was needed to control IOP<18 mm Hg. Iris neovascularization extension had no prognostic value in terms of IOP control. After vascular regression following the administration of ICB, filtering surgery with drainage implants or trabeculectomy were performed when needed with no added difficulties owing to the underlying NVG. No macroscopic signs of corneal toxicity were detected, even when ICB injection had to be repeated. In this case, the time elapsed for the neovascular membrane to reappear at the anterior segment was 3 months. ICB resulted in a rapid regression of the iris and angle neovascularization, which permitted to halt the progression of PAS process. This pilot study shows that intracameral injection of bevacizumab may be a helpful adjunct for the surgical treatment of NVG.

Peer reviewed article authored by (Oscar Buchacra, Susana Duch, Elena Milla, et al). Read article or submit your manuscript for publishing.

Mycoplasma pneumoniae is an atypical bacterium that can cause a great variety of respiratory infections and be responsible for ocular involvement such as conjunctivitis, anterior uveitis and very rarely optic neuropathy. We report herein an additional case of bilateral optic disc swelling with profound visual loss following Mycoplasma pneumoniae pneumonia and review the world literature on the ocular manifestations associated with this pathogen.