Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry.

PURPOSE: To report the relative frequencies of childhood and early onset glaucoma subtypes and their genetic findings in a large single cohort. DESIGN: Retrospective clinical and molecular study. PARTICIPANTS: All individuals with childhood glaucoma (diagnosed 0 to <18 years) and early onset glaucoma (diagnosed 18 to <40 years) referred to a national disease registry. METHODS: We retrospectively reviewed the referrals of all individuals with glaucoma diagnosed at <40 years of age recruited to the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG). Subtypes of glaucoma were determined using the Childhood Glaucoma Research Network (CGRN) classification system. DNA extracted from blood or saliva samples underwent sequencing of genes associated with glaucoma. MAIN OUTCOME MEASURES: The phenotype and genotype distribution of glaucoma diagnosed at <40 years of age. RESULTS: A total of 290 individuals (533 eyes) with childhood glaucoma and 370 individuals (686 eyes) with early onset glaucoma were referred to the ANZRAG. Primary glaucoma was the most prevalent condition in both cohorts. In the childhood cohort, 57.6% of individuals (167/290, 303 eyes) had primary congenital glaucoma (PCG), and 19.3% (56/290, 109 eyes) had juvenile open-angle glaucoma. Juvenile open-angle glaucoma constituted 73.2% of the early onset glaucoma cohort (271/370, 513 eyes). Genetic testing in probands resulted in a diagnostic yield of 24.7% (125/506) and a reclassification of glaucoma subtype in 10.4% of probands (13/125). The highest molecular diagnostic rate was achieved in probands with glaucoma associated with nonacquired ocular anomalies (56.5%). Biallelic variants in CYP1B1 (n = 29, 23.2%) and heterozygous variants in MYOC (n = 24, 19.2%) and FOXC1 (n = 21, 16.8%) were most commonly reported among probands with a molecular diagnosis. Biallelic CYP1B1 variants were reported in twice as many female individuals as male individuals with PCG (66.7% vs. 33.3%, P = 0.02). CONCLUSIONS: We report on the largest cohort of individuals with childhood and early onset glaucoma from Australasia using the CGRN classification. Primary glaucoma was most prevalent. Genetic diagnoses ascertained in 24.7% of probands supported clinical diagnoses and genetic counseling. International collaborative efforts are required to identify further genes because the majority of individuals still lack a clear molecular diagnosis.

Bilateral occipital lobe infarction with altitudinal field loss following radiofrequency cardiac catheter ablation.

BACKGROUND: Bilateral stroke following radiofrequency catheter ablation is an unusual complication and may result in bilateral altitudinal visual field defects. Bilateral altitudinal visual field defects usually result from prechiasmal pathology causing damage to both retinas or optic nerves and rarely from bilateral symmetric damage to the post chiasmal visual pathways. CASE PRESENTATION: A 48-year-old man complained of visual disturbance on wakening following radiofrequency catheter ablation. The patient had a CHADS score of 1 pre-operatively and no complications were noted intra-operatively. Examination revealed a bilateral superior altitudinal defect and MRI of the brain showed multifocal areas of infarction predominantly involving the occipital lobes which correlated to with the visual deficits. CONCLUSION: While the risk of thromboembolism and perioperative stroke during radiofrequency catheter ablation is small, it is not insignificant.

Retrospective study of an as required dosing regimen of intravitreal bevacizumab in neovascular age-related macular degeneration in an Australian population.

PURPOSE: To investigate the efficacy of intravitreal bevacizumab for the treatment of neovascular age-related macular degeneration (AMD) using an as required dosing regimen. METHODS: A retrospective study of 210 patients (231 eyes) with choroidal neovascularization resulting from neovasacular AMD. Patients were treated with 1.25 mg intravitreal bevacizumab at a vitreoretinal practice in Adelaide, South Australia. Patients were followed up at 2-4 weeks and then at 1-month intervals; repeat injections were offered in the event of recurrence. Recurrence was defined as either a decrease of best-corrected visual acuity or an increase in macular oedema, subretinal fluid or intraretinal fluid on optical coherence tomography, after complete or partial resolution in previous follow-up visits. Patient data were collected for 12 months of follow up or until the patient's treatment was changed to ranibizumab. RESULTS: Significant improvement in visual acuity and central retinal thickness was demonstrated at 1 month with an improvement of vision from logMAR equivalent 0.76 to 0.68 (P < 0.001) and a decrease of central retinal thickness from 306 µm to 244 µm (P < 0.001). This overall improvement was continued throughout the 12-month follow-up period; however, follow up was poor with 12-month data available for only a small number of patients (7.8%). Ocular and systemic side-effects were rare at 3.5% and 0.4%, respectively. CONCLUSION: Eyes with neovascular AMD treated with intravitreal bevacizumab for up to 12 months had significant functional and anatomical improvement. Further studies need to confirm the long-term safety and efficacy of this treatment.

Hypertrophic changes of the lower eyelid margin after hughes procedure for eyelid reconstruction: the management and outcomes.

PURPOSE: To describe the management of lower eyelid margin hypertrophy as a complication of the Hughes procedure for eyelid reconstruction. METHODS: A retrospective review of all patients with lower eyelid hypertrophy after Hughes procedure. Patient demographics, management, histologic findings, and outcomes were recorded. The patients underwent wedge excision of the hypertrophic segment of the eyelid with direct closure achieved in the majority of cases. RESULTS: Five patients were identified. The mean age at presentation was 66 years. The mean onset for the hypertrophic margin was 8.4 weeks after the Hughes flap. Four patients complained of ocular irritation and 1 patient had a constant ocular discharge. All patients were concerned by the appearance of the eyelid margin. Four patients received topical steroid treatment and 4 patients underwent triamcinolone subcutaneous injections with no improvement. The wedge excision was successful in 4 patients at the mean follow-up of 10 months, with no recurrence of the hypertrophic margin. One patient was reviewed in another center. CONCLUSION: The authors found no beneficial effect with topical or subcutaneous courses of steroids on eyelid margin hypertrophy. In situations of horizontal eyelid laxity, a full-thickness wedge excision offers a good means of removing the offending eyelid segment.

Visual field defects after stroke--a practical guide for GPs.

BACKGROUND: Visual field defect after stroke can result in significant disability and reduction in quality of life. Visual rehabilitation aims to maximise the residual vision and decrease functional disability. Understanding the rehabilitation options available, and where to refer patients with visual defects after a stroke, can help patients, and their families, in the rehabilitation process. OBJECTIVE: This article provides a review of the functional disability from visual field loss and discusses the various forms of visual rehabilitation. DISCUSSION: Optical therapy, eye movement therapy and visual field restitution are the rehabilitation therapies currently available. Rehabilitation needs to cater to each patient's specific needs. Any patient recognised as having a visual field defect after stroke needs prompt referral for further assessment and consideration for visual rehabilitation.

Clinicopathological correlation in pituitary gland metastasis presenting as anterior visual pathway compression.

Pituitary gland metastases, albeit rare, remain an important differential in sellar and suprasellar tumours. Clinical and radiological features of pituitary metastases may be indistinguishable from benign suprasellar lesions such as a pituitary adenoma. Histopathology with immunohistochemical assay remains the key to the diagnosis of pituitary metastasis. We describe four patients with sellar lesions presenting with anterior visual pathway compression initially diagnosed as pituitary adenomas who on immunohistochemistry were found to have metastases to the pituitary. Classification of the cell histology determined the primary site of origin in some patients. This series demonstrates the importance of combining histopathology and immunohistochemistry in the diagnosis of suprasellar lesions.