Propionibacterium acnes Endophthalmitis Following Baerveldt Glaucoma Device Implantation.

PURPOSE: The purpose of this study was to report a case of Propionibacterium acnes endophthalmitis in a patient with a Baerveldt glaucoma implant. PATIENTS AND METHODS: An 8-year-old boy presented with left eye pain, extreme photophobia, and acute anterior uveitis >6 months after Baerveldt glaucoma implantation. A diagnosis of P. acnes endophthalmitis was made after a positive culture of the explanted Baerveldt device. RESULTS: Initially, the patient was treated with intravitreal vancomycin and ceftazidime which led to mild early clinical improvement followed by deterioration of findings with recurrence of fibrin at the Baerveldt tube ostium within the anterior chamber. Repeat intravitreal injections were given to include antifungal coverage, along with intracameral moxifloxacin and subconjunctival vancomycin around the Baerveldt reservoir. Symptoms and findings again recurred, ultimately leading to the decision for complete removal of the glaucoma implant along with irrigation of the scleral bed with moxifloxacin. P. acnes was cultured from the extracted implant. The endophthalmitis resolved completely after implant removal. CONCLUSIONS: Despite the introduction of antibiotics into the intravitreal, intracameral, and subconjunctival space surrounding the Baerveldt implant, infection persisted until complete explantation of the device. Early explantation should be considered in glaucoma drainage device endophthamitis secondary to P. acnes.

Congenital glycosylation disorder: a novel presentation of coexisting anterior and posterior segment pathology and its implications in pediatric cataract management.

We report a case exhibiting the coexistence of anterior and posterior segment pathology in the same eye secondary to a congenital disorder of glycosylation resulting from a DPAGT1 gene mutation. This case details a novel gene mutation in a male infant found to have bilateral congenital cataracts, removed at 6 and 7 weeks of life, only to uncover bilateral retinal and optic atrophy. Our report highlights issues of surgical timing for syndrome-related pediatric cataracts, given the risks related to secondary glaucoma versus deprivation amblyopia, in an infant born with both cataracts and vision-limiting posterior segment pathology.

A Modeling Study of the Effects of Vocal Tract Movement Duration and Magnitude on the F2 Trajectory in CV Words.

Purpose: This study used a computational vocal tract model to investigate the relationship of diphthong duration and vocal tract movement magnitude to measures of the F2 trajectory in CV words. Method: Three words (bough, boy, and buy) were simulated on the basis of an adult female vocal tract model, in which the model parameters were estimated from audio recordings of a female talker. Model parameters were then modified to generate 35 simulations of each word corresponding to 7 different durations and 5 movement magnitude settings. In addition, these simulations were repeated with vocal tract lengths representative of an adult male and an approximately 6-year-old child. Results: On the basis of univariate analysis, measures of frequency predicted changes in magnitude, and temporal measures predicted changes in speaking rate consistent with the hypothesis. The combined effects of duration and magnitude showed that F2 was more sensitive to changes in magnitude at shorter word durations compared with longer word durations. This finding held across words and vocal tract length. Conclusions: Results suggest that there is an interaction between duration and magnitude that affects the slope of the F2 trajectory. The next step is to relate kinematics to F2 trajectory output using real speakers.

Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene.

PURPOSE: To report the occurrence of intraretinal cystoid spaces presumably due to retinal degeneration caused by CRB1 mutations, and the response to treatment with carbonic anhydrase inhibitors. MATERIALS: Retrospective case series. METHODS: We report four patients with retinal degeneration and intraretinal cystoid spaces due to CRB1 mutation. Of these patients, three were treated with topical carbonic anhydrase inhibitors. One of these three patients was changed to oral carbonic anhydrase inhibitor. Best corrected visual acuity and quantitative and qualitative macular optical coherence tomography results were recorded. RESULTS: Three patients were compound heterozygous for CRB1 mutations, and one had two mutations one of which was not found in the father. A total of seven different mutations were detected. All patients treated with carbonic anhydrase inhibitors experienced an improvement in visual acuity and decreased central retinal thickness, except in one eye in which retinal thickness paradoxically increased. CONCLUSIONS: CRB1 mutations may be associated with intraretinal cystoid spaces. The use of carbonic anhydrase inhibitors can result in improved visual acuity in some patients.

X-linked retinoschisis: novel mutation in the initiation codon of the XLRS1 gene in a large family.

PURPOSE: To describe a novel point mutation in the initiation codon of the XLRS1 gene in a large family and the clinical features of males affected with X-linked juvenile retino-schisis. METHODS: Genealogic investigation and mutation screening of the XLRS1 gene were performed for a 4-generation family consisting of 72 members. Affected males were evaluated clinically between 1986 and 2004 with up to 18 years of follow-up. RESULTS: We identified a novel point mutation (1A>T transversion) in the initiation codon of the XLRS1 gene in affected males resulting in an amino acid substitution of methionine to leucine (Met1Leu), therefore abolishing the translation initiation Met codon. CONCLUSION: Identification of the disease-causing mutation in this family with long-term follow-up allows for earlier and more accurate identification of individuals at risk for this inherited progressive macular degeneration, provides for more accurate genetic counseling, and contributes to our understanding of the pathophysiology of this disorder.