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.

Glaucoma Australia educational impact study: a randomized short-term clinical trial evaluating the association between glaucoma education and patient knowledge, anxiety and treatment satisfaction.

IMPORTANCE: Targeted education may impact glaucoma patients' clinical experience. BACKGROUND: The aim of this study was to measure the impact of patient-centred glaucoma-related education on knowledge, anxiety and treatment satisfaction. DESIGN: This was a multicentre Australia-wide randomized clinical trial. PARTICIPANTS: One hundred one newly diagnosed glaucoma patients were randomized 1:1 to intervention or control groups. METHODS: Those randomized to the Glaucoma Australia educational intervention received telephone-based counselling about glaucoma followed by mail-out information, in addition to usual care and information from their treating ophthalmologist. The control group received only usual care and information from their treating ophthalmologist. Surveys were administered at baseline and 4 weeks following intervention. MAIN OUTCOME MEASURES: The Auckland Glaucoma Knowledge Questionnaire measured glaucoma-related knowledge. The Hospital Anxiety and Depression Scale and Eye-Drop Satisfaction Questionnaire measured anxiety and patient treatment satisfaction, respectively. RESULTS: Mean age was 64.7 ± 11.1 years, and 52 (51.5%) were male. There was no noticeable increase in knowledge levels in the control group (mean difference: 0.04 logits, P = 0.7), compared with a 0.49-logit (P = 0.02) increase in knowledge levels in the intervention group. Between-group comparison showed a non-significant increase in knowledge (0.45 logits, P = 0.07) comparing intervention participants with controls. Intervention participants experienced a statistically significant decrease in anxiety compared to controls (-0.60 logits, P = 0.02). No between-group difference was found in Eye-Drop Satisfaction Questionnaire scores. CONCLUSIONS AND RELEVANCE: Patient-centred glaucoma-related education and support services may improve knowledge and can reduce anxiety for newly diagnosed glaucoma patients. All glaucoma patients should be adequately counselled about the nature of the disease and its management.

Clinical audit examining the impact of benzalkonium chloride-free anti-glaucoma medications on patients with symptoms of ocular surface disease.

BACKGROUND: Ocular surface disease (OSD) is relatively common in glaucoma patients. OSD symptoms could be linked to prolonged exposure to preservatives in anti-glaucoma medications, especially benzalkonium chloride (BAK). The OBSERVE clinical audit was designed to track the impact of intraocular pressure lowering medications in patients with evidence of OSD to test the hypothesis that BAK-free anti-glaucoma preparations offer clinical advantages over BAK-containing products. DESIGN: Prospective clinical audit from March 2012 to April 2013, open to ophthalmologists practising in Australia. PARTICIPANTS: There were 375 patients enrolled, with a completion rate of 64%. The cohort was predominantly female (68%) with an average age of 71 years. METHODS: Patients were screened for inclusion during a routine consultation. If eligible, they were enrolled. At the ophthalmologist's discretion, some patients were switched to BAK-free anti-glaucoma products. Data were collected via an online survey completed by the ophthalmologist during three appointments over a 16- to 30-week period for all patients. MAIN OUTCOME MEASURES: Intraocular pressure, tear-film breakup time, McMonnies Dry Eye Questionnaire score and reported lubricant use. RESULTS: Patients who switched to BAK-free preparations reported a significant fall in the use of lubricants (P = <0.001). Patients in both groups experienced a significant improvement in McMonnies Dry Eye Questionnaire score (P = <0.0001). The percentage of patients with low tear-film breakup time decreased significantly in both groups (P = 0.0001). There was no significant change in intraocular pressure from pre-study levels for either group (P = 0.105). CONCLUSIONS: BAK-free anti-glaucoma preparations were associated with a change in lubricant use, suggesting reduction in some OSD symptoms, but more research is needed.