Intraocular pressure and diurnal fluctuation of open-angle glaucoma and ocular hypertension: a baseline report from the LiGHT China trial cohort

AIMS: To report the baseline intraocular pressure (IOP) characteristics and its diurnal fluctuation in the Laser in Glaucoma and Ocular Hypertension China cohort. METHODS: 622 primary open-angle glaucoma (POAG) patients and 149 ocular hypertension (OHT) patients were recruited at Zhongshan Ophthalmic Center from 2015 to 2019. Standardised ocular examinations were performed including IOP measurement using the Goldmann applanation tonometer. Daytime phasing IOP was recorded at 8:00, 10:00, 11:30, 14:30, 17:00 hour. RESULTS: The mean baseline IOP was 20.2 mm Hg for POAG patients and 24.4 mm Hg for OHT. Multiple regression analysis revealed that thicker central corneal thickness (CCT) was correlated with higher IOP in both POAG and OHT. Male gender and younger age were correlated with higher IOP only for POAG. As for diurnal IOP fluctuation, mean IOP fluctuation was 3.4 mm Hg in POAG eyes and 4.4 mm Hg in OHT. The peak and trough IOP occurred at 8:00 and 14:30 hour in both POAG and OHT eyes. CONCLUSIONS: Younger age, male gender and thicker CCT are correlated to higher IOP in POAG patients while only thicker CCT is related to higher IOP in OHT patients. Peak IOP appears mostly at early morning or late afternoon and trough value occurs mostly at early afternoon

Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a heterogeneous group of progressive retinal degenerations characterized by pigmentation and atrophy in the mid-periphery of the retina. Twenty two subjects from a four-generation Chinese family with RP and thin cornea, congenital cataract and high myopia is reported in this study. All family members underwent complete ophthalmologic examinations. Patients of the family presented with bone spicule-shaped pigment deposits in retina, retinal vascular attenuation, retinal and choroidal dystrophy, as well as punctate opacity of the lens, reduced cornea thickness and high myopia. Peripheral venous blood was obtained from all patients and their family members for genetic analysis. After mutation analysis in a few known RP candidate genes, exome sequencing was used to analyze the exomes of 3 patients III2, III4, III6 and the unaffected mother II2. A total of 34,693 variations shared by 3 patients were subjected to several filtering steps against existing variation databases. Identified variations were verified in the rest family members by PCR and Sanger sequencing. Compound heterozygous c.802-8_810del17insGC and c.1091-2A>G mutations of the CYP4V2 gene, known as genetic defects for Bietti crystalline corneoretinal dystrophy, were identified as causative mutations for RP of this family

Early impairment of magnocellular visual pathways mediated by isolated-check visual evoked potentials in primary open-angle glaucoma: a cross-sectional study

Objective To explore different performances in the magnocellular (MC) and parvocellular (PC) visual pathways in patients with primary open-angle glaucoma (POAG) and to objectively assess impairment in early stage of POAG.Methods and analysis This is a cross-sectional study. MC and PC visual pathways were assessed using isolated-check visual evoked potential (ic-VEP). Visual acuity, intraocular pressure, fundus examination, optical coherence tomography and visual field were measured. Signal-to-noise ratios (SNRs), mediated by ic-VEP were recorded. The Spearman’s correlation analysis was used to estimate the relationships between visual functions and structures. Receiver-operating-characteristic (ROC) curves were used to estimate the accuracy in detection of early POAG.Results 60 participants (30 early POAG eyes and 30 age-matched control subjects) were recruited. MC visual pathway showed a non-linear response function, while PC visual pathway was a linear response function as contrast increased. Early POAG eyes exhibited significantly weaker initial contrast gains and lower maximum responses in the MC visual pathway (p=0.001, p=0.004, respectively). The SNRs at 8% and 32% depths of modulation (DOM) were significantly correlated with temporal-side retinal nerve fibre layer (RNFL) thickness in early POAG in MC-biased stimulation (p=0.017, p=0.020, respectively). The areas under ROC of 16% DOM were 0.780 (sensitivity 80.0%, specificity 63.3%) with the cut-off SNR of 2.07.Conclusions The MC visual pathway was damaged in the early stage of POAG. The SNRs at 8% and 32% DOM of MC-biased stimulation were significantly correlated with temporal-side RNFL thickness in early POAG, which helped in understanding the mechanisms of visual impairment in the early stage of POAG

Number of candidate Indels filtered against several public variation databases.

<p>Number of candidate Indels filtered against several public variation databases.</p

Representative photographs of patients of this family.

<p>(A) Fundus photographs showing bone spicule-like pigmentation, optic never head epimembrane and retinal vascular attenuation. Chorioretinal degeneration with peripapillary atrophy was seen. (B) Fundus fluorescein angiography images showing retinal vascular attenuation and chorioretinal atrophy. (C) OCT showing retinal atrophy. (D) ERG records showing no detectable cone and rod responses. (E) Slit-lamp photography showing punctate opacity of the lens as indicted by the arrows. (F) B-scan ophthalmic ultrasonic images showing posterior scleral staphyloma, indicating high myopia.</p

Pedigree of this family with RP.

<p>Solid symbols indicate affected individuals. Open symbols indicate unaffected individuals. Arrow indicates the proband and slash indicates deceased person.</p

Phenotype and genotype of subjects.

<p>Visual acuity shows corrected visual acuity; N/A, not available; PP, peripheral pigmentation; RVA, retinal vascular attenuation; RCA, retinal and choroidal atrophy. The visual acuity in the left eye of III 10 was reduced due to the presence of age related cataract.</p

Exome sequence variants shared by all affected individuals in homozygous or compound heterozygous states.

<p>Exome sequence variants shared by all affected individuals in homozygous or compound heterozygous states.</p

Number of candidate variants filtered against several public variation databases.

<p>Number of candidate variants filtered against several public variation databases.</p