Quality of Life of Caregivers of Children With Glaucoma in an Arab Population: A Cross-Sectional Study.

BACKGROUND: To evaluate the quality of life (QoL) measures of caregivers of children with glaucoma using the Caregiver's Congenital Glaucoma Quality of Life (CarCGQoL) questionnaire. MATERIALS AND METHODS: This was a cross-sectional study undertaken at King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. QoL of the caregivers, the main outcome, was assessed using the 20-item CarCGQoL questionnaire. Raw QoL scores of caregivers were converted to Rasch-calibrated interval level scores. A multiple linear regression analysis was performed to identify factors associated with caregivers' QoL. RESULTS: Eighty-five caregivers (46 fathers and 39 mothers) aged 42.5±7.5 years were included in the study. The mean QoL score of caregivers was 0.63 (±1.05). The presence of additional children with glaucoma in the household had the strongest negative relationship with caregivers' QoL [ß=-0.75, 95% confidence interval (CI): -1.22, -0.27; P=0.003]. A poor QoL was noted with mother caregivers (ß=-0.46, 95% CI: -0.87, -0.04; P=0.031) and those caring for blind children (vision <20/200 in the better eye) (ß=-0.52, 95% CI: -0.98,-0.05; P=0.030) when compared with their reference groups. A 22.3% variance in the QoL score was explained by these three factors (adjusted R=0.223). CONCLUSIONS: The QoL of caregivers of children with glaucoma was poor. Caregiver's relation to patients, additional children with glaucoma in the family and patient's vision in the better eye could influence a caregiver's QoL. Periodic evaluation of QoL of caregivers is recommended to plan counseling and other support services.

CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

PURPOSE: To screen primary congenital glaucoma patients in the United States for sequence variants within the CYP1B1, LTBP2, and MYOC genes using Sanger and whole exome sequencing. DESIGN: Retrospective case-control study. METHODS: Fifty-seven primary congenital glaucoma patients (47 families), 71 unaffected family members of the primary congenital glaucoma probands, and 101 healthy unrelated individuals were recruited from a single institution. Sanger sequencing of the primary congenital glaucoma gene, CYP1B1, was performed on 47 proband deoxyribonucleic acid samples. Simultaneously, whole exome sequencing was conducted on 3 families, each including more than 1 affected individual. Concurrently, 33 of 47 primary congenital glaucoma probands with extended family deoxyribonucleic acid samples were screened for LTBP2 and MYOC gene mutations. Exome-sequenced variations were validated by additional Sanger sequencing to confirm segregation of filtered disease-causing single nucleotide variations. RESULTS: Seven primary congenital glaucoma families (14.9%) manifested disease phenotypes attributable to CYP1B1 mutations. One primary congenital glaucoma family possessed homozygous mutant alleles, whereas 6 families carried compound heterozygous mutations. Five novel combinations of compound heterozygous mutations were identified, of which 2 combinations were found with whole exome sequencing. No disease-causing mutations within the LTBP2 and MYOC genes were discovered. CONCLUSIONS: This study analyzed CYP1B1, LTBP2, and MYOC mutations in a cohort of primary congenital glaucoma patients from the United States, applying whole exome sequencing as a complementary tool to Sanger sequencing. Whole exome sequencing, coupled with Sanger sequencing, may identify novel genes in primary congenital glaucoma patients who have no mutations in known primary congenital glaucoma genes.

CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children.

Nonsyndromic primary newborn glaucoma, the most severe form of primary congenital glaucoma, typically is bilateral and often the result of CYP1B1 mutations, particularly in certain consanguineous populations. Truly unilateral cases are uncommon and genetically not well studied. During a 9-year period, we tested 5 consecutive children with unilateral primary newborn glaucoma from Saudi Arabia, where CYP1B1 mutations are the cause for 91% of bilateral primary newborn glaucoma cases. None of these children with unilateral primary newborn glaucoma harbored CYP1B1 mutations, suggesting that in this population the pathogenesis of unilateral disease differs from that of bilateral disease.

Outcomes of Ahmed glaucoma valve implantation in children with primary congenital glaucoma.

OBJECTIVES: To evaluate the long-term efficacy of intraocular pressure reduction and complications of Ahmed glaucoma valve (AGV) implantation in children with primary congenital glaucoma. METHODS: The medical records of patients with primary congenital glaucoma who underwent AGV implantation with a minimum follow-up of 6 months were reviewed. The primary outcome measure was cumulative probability of success, defined as intraocular pressure greater than 5 mm Hg and less than 23 mm Hg and at least a 15% reduction from the preoperative intraocular pressure, without serious complications, additional glaucoma surgery, or loss of light perception. RESULTS: Thirty eyes of 19 children with primary congenital glaucoma who underwent AGV implantation with a minimum follow-up of 6 months were reviewed. The children had a mean (SD) age of 1.8 (2.6) years, a mean (SD) preoperative intraocular pressure of 28.4 (6.7) mm Hg, and a mean (SD) follow-up time of 57.6 (48.0) months. The cumulative probability of success was 63% in 1 year and 33% in 5 years. After a second AGV implantation, the cumulative probability of success was 86% in 1 and 2 years and 69% in 5 years. Hispanic ethnicity (P = .02) and being female (P = .005) were associated with increased risk of failure. CONCLUSIONS: Thirty-three percent of AGV implantations in children with primary congenital glaucoma were successful after 5 years of follow-up. With the implantation of a second AGV, the 5-year success rate increased to 69%.