Awareness and Knowledge About Glaucoma in the Western Region of Saudi Arabia: A Population-Based Survey.

Background Glaucoma is a leading cause of irreversible blindness worldwide. This study aimed to assess the Saudi population's levels of awareness and knowledge regarding glaucoma risk factors, symptoms, treatment, and outcomes. Methods A cross-sectional study was conducted among the Glaucoma Awareness Campaign attendees during the World Glaucoma Week (2015-2016). A structured questionnaire was used, and a knowledge score (0-25) was calculated as the sum of all correct answers. Sociodemographic factors, personal and family history of glaucoma, and the presence of risk factors were investigated and analyzed as factors affecting knowledge. Results The study included 1751 participants, with a mean age of 40.23 (SD ±13.86) years; 51.5% were males, 3.7% had glaucoma and 22.6% had a family history of glaucoma. The overall awareness rate was 65.6%, which was moderately higher among females (71.6%), older participants (≥40 years, 69.7%), and highly educated participants (70.6%). Concerning knowledge, 15.4% had fair to good knowledge (score 15-25). Participants with a personal history of glaucoma had relatively greater knowledge regarding glaucoma-specific questions, such as optic nerve damage (p=0.001) and the requirement of lifetime treatment (p<0.001). Conclusion Awareness and knowledge about glaucoma are limited among the Saudi population, regardless of socioeconomic class or educational status. Knowledge about glaucoma should be further promoted to enable early screening and prevention.

Prevalence of Glaucoma in Patients with Obstructive Sleep Apnea.

To determine the prevalence of glaucoma in obstructive sleep apnea (OSA) patients and compare it with that of patients without OSA. Patients investigated for OSA using polysomnography at the sleep center of King Abdulaziz University Hospital were invited to participate in this cross-sectional case series study. American Academy of Sleep Medicine guidelines were used to diagnose OSA. Recruitment of patients with and without OSA was conducted from December 2013 to September 2015. Exclusion criteria included topical and systemic steroid use and presence of other ocular diseases. Two criteria, cup/disc ratio and visual field defects, were necessary for a glaucoma diagnosis. Among 84 adults enrolled, 44 (52%) had a confirmed diagnosis of OSA. Glaucoma prevalence was higher among individuals with OSA (16%) than among non-OSA individuals (8%), a difference that was not statistically significant. A consistent trend, which was not statistically significant after adjusting for cofounders, toward more glaucomatous changes was observed in OSA subjects. Although a trend toward higher glaucoma prevalence was observed in OSA patients, the difference was not statistically significant. As many variables contribute to the development of the two conditions, larger cohorts are needed to evaluate associations between glaucoma and OSA.

CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia.

BACKGROUND: CYP1B1 is the most commonly mutated gene in primary congenital glaucoma (PCG). This study was undertaken to identify mutations in CYP1B1 in the Western region of Saudi Arabia. METHODS: Blood of patients who had typical findings of PCG, were screened by direct sequencing of all coding exons and splice junctions of the CYP1B1 gene. RESULTS: 34 patients were studied; 18 patients belonged to 8 families, and 16 patients were non-familial, isolated PCG. Consanguinity was found in 27/34 (79.4%) of cases. All patients were diagnosed to have bilateral PCG at birth except one child, who had glaucoma in the right eye. More males (61.8%) were affected than females (38.2%). 79.4% (27/34) of patients were solved with pathogenic mutations and 20.6% (7/34) remained unsolved. Of the solved ones, 22.2% (6/27) of patients carry a pathogenic allele on one allele while the other allele remained yet to be determined. Direct sequencing of exon 2 revealed two pathogenic variants (p.Gly61Glu, p.Glu229Lys). P.Gly61Glu substitution was found both homozygously in 63% (17/27) of cases, and heterozygously in one patient. P.Glu229Lys variant was found heterozygous in 3.7% (1/27) of cases. One pathogenic variant (p.Arg469Trp) was found in exon 3, and is present homozygously in 14.8% (4/27) of cases while four patients have this variant heterozygously. All mutations were reported previously in the Saudi population, except p.Glu229Lys. Severe cases were associated with p.Gly61Glu, and p.Arg469Trp in 50% and 30% of ten patients respectively. CONCLUSIONS: This study confirms that CYP1B1 mutations are the most frequent cause of PCG in the Saudi population, with p.Gly61Glu being the major disease-associated mutation. P.Glu229Lys is a newly discovered mutation in our PCG patients. Patient lacking mutation in CYP1B1 gene seems likely, to have another genetic loci involved in the pathogenesis of the disease, and need further study. Genetic studies of recessive diseases such as PCG is important in consanguineous populations, since it will increase awareness and allows genetic counseling to be offered to patients and their relatives. This will not only reduce the disease to be inherited to future generations, but will also reduce the disease burden in the community.