Materials and methods: We analysed 100 unrelated HA and 15 unrelated HB patients for genetic alterations in the F8 and F9 genes by using the long-range PCR, DNA sequencing, and the multiplex-ligation-dependent probe amplification assays. The prediction software was used to confirm the effects of these mutations on factor VIII and IX proteins.
Results: 44 (53%) of the severe HA patients were positive for F8 intron 22 inversion, and three (3.6%) were positive for intron one inversion. There were 22 novel mutations in F8, including missense (8), frameshift (9), splice site (3), large deletion (1) and nonsense (1) mutations. In HB patients, four novel mutations were identified including the splice site (1), small deletion (1), large deletion (1) and missense (1) mutation.
Discussion: The mutational spectrum of F8 in Malaysian patients is heterogeneous, with a slightly higher frequency of intron 22 inversion in these severe HA patients when compared to other Asian populations. Identification of these mutational profiles in F8 and F9 genes among Malaysian patients will provide a useful reference for the early detection and diagnosis of HA and HB in the Malaysian population.
METHOD: Prospective case series.
RESULTS: Doxycycline is widely used in treating corneal melts, ocular surface diseases, meibomian gland disease, recurrent epithelial cell erosion, rosacea, and keratitis sicca. This prospective case series highlights the successful treatment of five patients with leaking blebs and conjunctiva erosion from glaucoma filtration surgery with the use of oral doxycycline. There was no adverse event reported in our cases.
CONCLUSIONS: This study suggests that oral doxycycline may be a feasible non-surgical treatment modality due to its ability to inhibit collagenolysis, restore the Meibomian gland function, thereby stopping breakdown and promote conjunctival tissue healing.
CASE DESCRIPTION: A 28-year-old gentleman with body mass index of 34.3 was referred to us for management of double vision of 2 weeks duration. His symptom started after a brief episode of upper respiratory tract infection. His best corrected visual acuity was 6/6 OU. He had bilateral sixth nerve palsy worse on the left eye and bilateral hypometric saccade. His deep tendon reflexes were found to be hyporeflexic in all four limbs. No sensory or motor power deficit was detected, and his gait was normal. Plantar reflexes were downwards bilaterally and cerebellar examination was normal. Both optic discs developed hyperaemia and swelling. Magnetic resonance imaging of brain was normal and lumbar puncture revealed an opening pressure of 50 cmH2O. Anti-GQ1b IgG and anti-GT1a IgG antibody were tested positive.
CONCLUSION: Acute ophthalmoparesis without ataxia can present with co-occurrence of raised intracranial pressure. It is important to have a full fundoscopic assessment to look for papilloedema in patients presenting with Miller Fisher syndrome or acute ophthalmoparesis without ataxia.
METHODS: In this cross-sectional study, 30 severe glaucoma patients, 30 mild glaucoma patients and 30 age-matched controls were recruited. All subjects underwent standard automated perimetry, RNFL analysis and 3 T MRI examinations. Glaucoma patients were classified according to the Hodapp-Anderson-Parish classification. Pearson's correlation coefficient was used to correlate ON volume with RNFL, and receiver operating curve (ROC) analysis was performed to determine the sensitivity and specificity of ON volume in detecting glaucoma severity.
RESULTS: Optic nerve volume was significantly lower in both the left and right eyes of the severe glaucoma group (168.70 ± 46.28 mm(3); 167.40 ± 45.36 mm(3)) than in the mild glaucoma group (264.03 ± 78.53 mm(3); 264.76 ± 78.88 mm(3)) and the control group (297.80 ± 71.45 mm(3); 296.56 ± 71.02 mm(3)). Moderate correlation was observed between: RNFL thickness and ON volume (r = 0.51, p <0.001), and in mean deviation of visual field and optic nerve volume (r = 0.60, p
PURPOSE: The purpose of this study was to investigate the clinical characteristics, including 24-hour ocular perfusion pressure and risk of progression in patients with baseline central VF defect, as compared with those with peripheral VF defect in NTG.
DESIGN: This was a prospective, longitudinal study.
METHODS: A total of 65 NTG patients who completed 5 years of follow-up were included in this study. All the enrolled patients underwent baseline 24-hour intraocular pressure and blood pressure monitoring via 2-hourly measurements in their habitual position and had ≥5 reliable VF tests during the 5-year follow-up. Patients were assigned to two groups on the basis of VF defect locations at baseline, the central 10 degrees, and the peripheral 10- to 24-degree area. Modified Anderson criteria were used to assess global VF progression over 5 years. Kaplan-Meier analyses were used to compare the elapsed time of confirmed VF progression in the two groups. Hazard ratios for the association between clinical risk factors and VF progression were obtained by using Cox proportional hazards models.
RESULTS: There were no significant differences between the patients with baseline central and peripheral VF defects in terms of demography, clinical, ocular and systemic hemodynamic factors. Eyes with baseline defects involving the central fields progressed faster (difference: βcentral=-0.78 dB/y, 95% confidence interval=-0.22 to -1.33, P=0.007) and have 3.56 times higher hazard of progressing (95% confidence interval=1.17-10.82, P=0.025) than those with only peripheral defects.
CONCLUSION: NTG patients with baseline central VF involvement are at increased risk of progression compared with those with peripheral VF defect.
DESIGN: Prospective, longitudinal study.
METHODS: Sixty-five NTG patients who were followed up for 5 years are included in this study. All the enrolled patients underwent baseline 24-h IOP and BP monitoring via 2-hourly measurements in their habitual position and were followed up for over 5 years with reliable VF tests. Modified Anderson criteria were used to assess VF progression. Univariable and multivariable analyses using Cox's proportional hazards model were used to identify the systemic and clinical risk factors that predict progression. Kaplan-Meier survival analyses were used to compare the time elapsed to confirmed VF progression in the presence or absence of each potential risk factor.
RESULTS: At 5-year follow-up, 35.4% of the enrolled patients demonstrated visual field progression. There were statistically significant differences in the mean diastolic blood pressure (p 43.7 mmHg (log rank = 0.018).
CONCLUSION: Diastolic parameters of BP and OPP were significantly lower in the NTG patients who progressed after 5 years. Low nocturnal DOPP is an independent predictor of glaucomatous visual field progression in NTG patients.