Archives of ophthalmology最新文献

Objective: To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsyndromic autosomal recessive retinitis pigmentosa (RP).

Methods: Homozygosity mapping of a patient with isolated RP was followed by BBS1 sequence analysis. We performed restriction fragment length polymorphism analysis of the p.M390R allele in 2007 patients with isolated RP or autosomal recessive RP and in 1824 ethnically matched controls. Patients with 2 BBS1 variants underwent extensive clinical and ophthalmologic assessment.

Results: In an RP proband who did not fulfill the clinical criteria for BBS, we identified a large homozygous region encompassing the BBS1 gene, which carried the p.M390R variant. In addition, this variant was detected homozygously in 10 RP patients and 1 control, compound heterozygously in 3 patients, and heterozygously in 5 patients and 6 controls. The 14 patients with 2 BBS1 variants showed the entire clinical spectrum, from nonsyndromic RP to full-blown BBS. In 8 of 14 patients, visual acuity was significantly reduced. In patients with electroretinographic responses, a rod-cone pattern of photoreceptor degeneration was observed.

Conclusions: Variants in BBS1 are significantly associated with nonsyndromic autosomal recessive RP and relatively mild forms of BBS. As exemplified in this study by the identification of a homozygous p.M390R variant in a control individual and in unaffected parents of BBS patients in other studies, cis - or trans -acting modifiers may influence the disease phenotype.

Clinical relevance: It is important to monitor patients with an early diagnosis of mild BBS phenotypes for possible life-threatening conditions.

OBJECTIVE To describe the etiology and outcome of patients with simultaneous-onset nongranulomatous bilateral acute anterior uveitis. METHODS The medical records of patients who presented to a single tertiary care center with simultaneous-onset nongranulomatous bilateral acute anterior uveitis between January 1990 and May 2010 were retrospectively reviewed; the clinical presentation, results of diagnostic testing, and outcome data are described. RESULTS A total of 4288 new patients with uveitis were evaluated by the Uveitis Service at the University of Illinois at Chicago Eye and Ear Infirmary between January 1990 and May 2010. Of these new patients, 44 (1%) presented with simultaneous-onset nongranulomatous bilateral acute anterior uveitis. The most common etiologies were postinfectious or drug-induced uveitis (23 of 44 patients [52%]) and idiopathic uveitis (15 patients [34%]). Tubulointerstitial nephritis and uveitis syndrome, HLA-B27-associated uveitis, inflammatory bowel disease, and Kawasaki disease each made up fewer than 5% of diagnoses. Overall, this group of patients was younger than the entire cohort of new patients with uveitis who were evaluated during the same time period (P = .002). For 14 of the 15 patients with at least a year of follow-up (93%), the disease duration was limited (<3 months). Of these 14 patients, 7 (50%) developed recurrent disease, with an average time to first recurrence of 20 months (range, 7.5-40 months) after resolution of the initial inflammatory episode. CONCLUSIONS Simultaneous-onset nongranulomatous bilateral acute anterior uveitis is a rare clinical entity that is more common in younger patients and is most frequently associated with recent infection and/or systemic antibiotic use. Tubulointerstitial nephritis and uveitis syndrome should also be considered as a diagnosis. Diagnostic evaluation should include serum antistreptolysin-O titers, HLA-B27 antigen, and urine β2 microglobulin levels because these may reveal systemic disease that requires therapy.

Objective: To investigate the effect of cataract surgery on subjective quality of vision.

Methods: The Quality of Vision (QoV) questionnaire (Italian translation) was completed before and 3 months after cataract surgery in 4 groups of patients recruited from September through December 2010: first eye with ocular comorbidity, first eye without ocular comorbidity, second eye with ocular comorbidity, and second eye without ocular comorbidity. The questionnaire measures 3 aspects of quality of vision: frequency, severity, and bothersome nature of symptoms. The Lens Opacities Classification System (LOCS) III was used for cataract grading. Friedman and Kruskal-Wallis H tests were performed to compare QoV scores within and between groups. Spearman rank correlations (rs) were calculated to investigate the correlation between LOCS III and QoV symptoms.

Results: Two hundred twelve patients (mean [SD] age, 74.2 [8.7] years) were recruited, and 212 eyes were included in the study. Improvements in QoV scores were found in all 4 groups (P < .05). There were no statistically significant (P > .05) differences among the 4 groups in the improvement in QoV scores or in the preoperative or postoperative scores. Blurred vision was correlated with posterior subcapsular cataract (rs = 0.420, P = .04).

Conclusions: Cataract in one or both eyes causes a similar loss in subjective quality of vision, which is also irrespective of the presence of ocular comorbidity. Posterior subcapsular cataract causes the specific symptom "blurred vision." Cataract surgery resulted in a large and comparable improvement in subjective quality of vision, regardless of ocular comorbidity and first or second eye surgery.