Multimodal imaging and genetic characteristics of autosomal recessive bestrophinopathy.

PURPOSE: To report the ocular manifestations, multimodal imaging characteristics and genetic testing results of six patients with autosomal recessive bestrophinopathy (ARB). METHODS: This was an observational case series including 12 eyes of 6 patients who were diagnosed with ARB. All patients underwent a complete ophthalmic examination including refraction, slit-lamp biomicroscopy, dilated fundus examination, fundus autofluorescence, optical coherence tomography and electrooculography. BEST1 gene sequencing was also performed for all patients. RESULTS: The mean age was 22.8years and the male-female ratio was 0.50. All ARB patients had a hyperopic refractive error. A spectrum of fundus abnormalities, including multifocal yellowish subretinal deposits in the posterior pole, subfoveal accumulation of vitelliform material and cystoid macular edema, was observed. Fundus autofluorescence imaging demonstrated marked hyperautofluorescence corresponding to the yellowish subretinal deposits. Optical coherence tomography revealed serous retinal detachment, intraretinal cysts, brush border appearance caused by elongation of the outer segments of photoreceptors, and hyperreflective dome-shaped deposits at the level of the retinal pigment epithelium. Fundus fluorescein angiography showed hyperfluorescence with staining of the yellowish subretinal deposits. Electrooculography showed reduced Arden ratio in all patients. In addition, biallelic pathogenic variants in the BEST1 gene were detected in all patients. CONCLUSION: ARB is a rare autosomal recessive inherited retinal disorder with biallelic pathogenic variants in the BEST1 gene and may present with a wide range of ocular abnormalities that may not be easily diagnosed. Multimodal retinal imaging in conjunction with EOG is helpful to establish the correct diagnosis.

An Algorithm for the Diagnosis of Behçet Disease Uveitis in Adults.

Purpose: To develop an algorithm for the diagnosis of Behçet's disease (BD) uveitis based on ocular findings.Methods: Following an initial survey among uveitis experts, we collected multi-center retrospective data on 211 patients with BD uveitis and 207 patients with other uveitides, and identified ocular findings with a high diagnostic odds ratio (DOR). Subsequently, we collected multi-center prospective data on 127 patients with BD uveitis and 322 controls and developed a diagnostic algorithm using Classification and Regression Tree (CART) analysis and expert opinion.Results: We identified 10 items with DOR >5. The items that provided the highest accuracy in CART analysis included superficial retinal infiltrate, signs of occlusive retinal vasculitis, and diffuse retinal capillary leakage as well as the absence of granulomatous anterior uveitis or choroiditis in patients with vitritis.Conclusion: This study provides a diagnostic tree for BD uveitis that needs to be validated in future studies.

Nasotracheal intubation of a patient with restricted mouth opening using a McGrath MAC X-Blade and Magill forceps.

We experienced a case of successful nasotracheal intubation using the X-Blade of the McGrath MAC in a 28-year-old woman with a 2.5-cm mouth opening. She had no teeth on the right side, her neck movement was limited, her mandibular protrusion was grade C, and her Mallampati could not be evaluated. Her tongue was fixed to the left wall during a previous surgery. We evaluated the awake glottic view using the McGrath MAC X-Blade and topical oral anesthesia. We obtained a Cormack-Lehane grade II view and then decided to administer general anesthesia. Intubation was attempted with a Macintosh laryngoscope, but we could not insert the scope deeply enough and there was no area in which to insert the Magill forceps or endotracheal tube. We then used the X-Blade 3 of the McGrath MAC and obtained a sufficient area in which to insert the tube and manipulate the Magill forceps. A laryngoscopic view was achieved in 7 s and nasotracheal intubation was performed in 16 s with a 7.0-mm spiral tube using the Magill forceps. McGrath MAC X-Blade can be used with the Magill forceps in patients with restricted mouth opening with careful patient selection, in experienced hands.

Ahmed valve implantation in glaucoma secondary to chronic uveitis.

PURPOSE: To evaluate the efficacy of Ahmed valve (AV) implantation in patients with uveitic glaucoma. METHODS: In total, 18 patients (19 eyes) with glaucoma secondary to chronic uveitis, who underwent AV implantation were retrospectively reviewed. Visual acuity, intraocular pressure (IOP), and glaucoma medications at the most recent examination prior to surgery, were compared with those of last postoperative examination. The surgical success was defined as IOP less than 21 mmHg and greater than 4 mmHg without loss of light perception and visually devastating complications at the last postoperative examination. Decrease in the number of glaucoma medications was also a criterion for surgical success. RESULTS: The mean follow-up period was 26+/-9.7 months. The mean preoperative and postoperative IOPs were 33.3+/-9.7 (range, 20-57) mmHg and 17.3+/-10.8 (range, 6-40) mmHg respectively (P<0.0001). The mean number of antiglaucoma medications was 3.5+/-0.8 (range, 2-5) preoperatively and 1.4+/-1.3 (range, 0-4) postoperatively (P<0.0001). Valve occlusion (five eyes, 26.3%) was the most commonly observed complication. Surgical success was achieved in 13 eyes (68.4%). The cumulative probability of success was 94.4% at 1 year and 60% at 2 years. Five eyes (26.3%) with IOP greater than 21 mmHg and one (5.3%) with corneal decompensation requiring penetrating keratoplasty were considered as failures. CONCLUSIONS: The implantation of AV is an effective surgical procedure for the management of uveitic glaucoma. The inflammatory background might contribute to the occurrence of valve occlusion, which is the most common complication. Prevention of this complication is an essential factor for improving the surgical outcome.

The role of ultrasound biomicroscopy in predicting the result of temporal artery biopsy in temporal arteritis patients: a preliminary study.

PURPOSE: Temporal artery biopsy is considered the gold standard for the diagnosis of temporal arteritis (TA). However, complications following this procedure may occur. The goal of this study is to evaluate if ultrasound biomicroscope (UBM) findings are useful in predicting the result (positive or negative) of temporal artery biopsy in patients with TA. METHODS: Twenty-six consecutive patients with clinical diagnosis of TA seen at the Department of Ophthalmology, Royal Victoria Hospital, Montreal, Canada, were involved in this study. All patients were submitted to UBM before temporal artery biopsy. Eight patients presented histopathologic findings consistent with the diagnosis of TA. Thus, UBM findings of these patients were compared with those from 18 patients with negative biopsy. On UBM we searched for the presence of a hypoechoic effect surrounding the walls of the temporal arteries, the so-called halo sign, as well as an intra-arterial middle reflexive filling, the so-called intra-arterial filling. RESULTS: The halo sign and/or the intra-arterial filling were found in 8 (100%) of 8 patients with biopsy-proven TA. However, 10 (55.5%) of 18 patients with a negative biopsy presented one or both of these two UBM findings. On the other hand, the absence of these two parameters on the UBM of a patient with TA strongly suggests that the temporal artery biopsy will be negative (negative predictive value=100%). CONCLUSIONS: This preliminary work suggests that UBM may play a role in predicting a negative result of the temporal artery biopsy in patients with TA. In the present series approximately 30% of the patients could be spared this surgical procedure and its possible complications.

The role of ultrasound biomicroscopy in predicting the result of temporal artery biopsy in temporal arteritis patients: A preliminary study.

PURPOSE: Temporal artery biopsy is considered the gold standard for the diagnosis of temporal arteritis (TA). However, complications following this procedure may occur. The goal of this study is to evaluate if ultrasound biomicroscope (UBM) findings are useful in predicting the result (positive or negative) of temporal artery biopsy in patients with TA. METHODS: Twenty-six consecutive patients with clinical diagnosis of TA seen at the Department of Ophthalmology, Royal Victoria Hospital, Montreal, Canada, were involved in this study. All patients were submitted to UBM before temporal artery biopsy. Eight patients presented histopathologic findings consistent with the diagnosis of TA. Thus, UBM findings of these patients were compared with those from 18 patients with negative biopsy. On UBM we searched for the presence of a hypoechoic effect surrounding the walls of the temporal arteries, the so-called halo sign, as well as an intra-arterial middle reflexive filling, the so-called intra-arterial filling. RESULTS: The halo sign and/or the intra-arterial filling were found in 8 (100%) of 8 patients with biopsy-proven TA. However, 10 (55.5%) of 18 patients with a negative biopsy presented one or both of these two UBM findings. On the other hand, the absence of these two parameters on the UBM of a patient with TA strongly suggests that the temporal artery biopsy will be negative (negative predictive value=100%). CONCLUSIONS: This preliminary work suggests that UBM may play a role in predicting a negative result of the temporal artery biopsy in patients with TA. In the present series approximately 30% of the patients could be spared this surgical procedure and its possible complications.

Multifocal choroiditis--an unusual finding in Crohn's disease.

PURPOSE: To report a patient with Crohn's disease and acute decreased vision in one eye secondary to multifocal choroiditis and serous retinal detachment. METHODS: A complete ocular examination, including fluorescein angiography, was performed. RESULTS: Fundus biomicroscopy disclosed multifocal, deep, discretely elevated yellowish lesions at the posterior pole of the affected eye. Fluorescein angiographic study of these lesions revealed early hypofluorescence followed by late hyperfluorescence. Subtenonian injection of corticosteroids rapidly induced remission of the choroidal lesions. CONCLUSIONS: Chorioretinal involvement in patients with Crohn's disease may or may not be related to reactivation of this disorder. Therefore, even patients without gastrointestinal symptoms who present with posterior segment inflammation must be informed of this. The chorioretinal inflammatory lesions do seem to respond promptly to periocular injection of corticosteroids.

Accuracy of the clinical diagnosis of chalazion.

PURPOSE: A chalazion, localized lipogranulomatous inflammation of the eyelid, may simulate various eyelid lesions. This study was conducted to determine the accuracy of the clinical diagnosis of chalazion and demonstrate the importance of histopathological confirmation of the diagnosis. METHODS: Histopathological diagnoses of 1060 cases with the clinical diagnosis of chalazion, submitted to the Henry C Witelson Ophthalmic Pathology Laboratory and Registry between September 1993 and December 2001, were retrospectively evaluated. Discrepancies between clinical and histopathological diagnoses were classified. RESULTS: A total of 1033 (97.4%) of the 1060 cases were clinically diagnosed as primary and the remaining 27 (2.6%) as recurrent chalazions. Agreement was noted between clinical and histopathological diagnoses in 992 (93.6%) cases. Of the 68 (6.4%) clinically misdiagnosed cases, 15 (1.4%) were found to be malignant, two (0.2%) premalignant, and 51 (4.8%) benign conditions. Sebaceous cell carcinoma was the most commonly missed malignancy (12 cases, 1.1%) followed by basal cell carcinoma (three cases, 0.3%). Premalignant lesions, which masqueraded as chalazion, were chronic inflammation with cellular atypia and mitotic figures (two cases, 0.2%). Of these 17 cases with premalignant and malignant histopathologies, only six (35.3%) had a clinical diagnosis of recurrent chalazion, whereas the others (64.7%) were primary cases. Of the various benign conditions that were misdiagnosed as chalazion, different types of chronic inflammation (24 cases, 2.2%) were the most frequent. CONCLUSIONS: A number of different benign, premalignant, and malignant conditions may clinically masquerade as a chalazion. Delayed diagnosis and treatment of sebaceous cell carcinoma, which is the most frequently missed malignancy, may be life threatening for the patient. Therefore, all chalazion specimens, primary or recurrent, should be submitted for histopathological examination.

Factors influencing treatment results in pseudophakic endophthalmitis.

PURPOSE: To evaluate risk factors, therapeutic approaches and factors associated with the poor visual outcome in pseudophakic endophthalmitis. METHODS: Data related to 28 cases with the diagnosis of endophthalmitis after cataract surgery and IOL implantation were gathered retrospectively. RESULTS: Preceding surgery was extracapsular cataract extraction (ECCE) in 18, phacoemulsification in 8 and scleral fixated intraocular lens implantation in two cases. Posterior capsule rupture and diabetes mellitus were considered to contribute to the development of endophthalmitis because of their high incidences (50% and 25%) in the study group. Microbiological studies from aqueous and vitreous humour were done in 85% of the cases and 58% were positive. S. Epidermidis was the most common organism, accounting for 50% of the isolates. All cases were given topical and systemic antibiotics. Inflammation was controlled by addition of subconjunctival antibiotics to this regimen in two, intravitreal antibiotic injection in 14, pars plana vitrectomy, total capsular and lens extraction and intravitreal antibiotic injection in three, lens exchange, intracapsular and intravitreal antibiotic injection in three cases. Six (21%) cases eventually needed evisceration. Visual acuity of 20/40 or better was achieved in 25%, and 20/100 or better in 64%. CONCLUSIONS: Treatment delay (p=0.039), capsular rupture complicating cataract surgery, especially with extracapsular cataract extraction (p=0.015), and initial visual acuity worse than hand motion (p=0.003) were strong predictors of poor visual outcome. The risk of endophthalmitis was not different forplanned ECCCE (0.26%) andphacoemulsification (0.27%) but the prognosis was better with the latter.