Biomedical subjects

Christopher K S Leung

Publications and source records attributed to Christopher K S Leung.

3 recordsLinked to original sources

PubMed2006

A genome-wide scan maps a novel juvenile-onset primary open-angle glaucoma locus to 15q.

PURPOSE: To map the disease-associated locus of a family with autosomal dominant juvenile-onset primary open-angle glaucoma (JOAG). METHODS: A complete ophthalmic examination was conducted, and genomic DNA was obtained from 25 members of a Chinese family, of which eight were confirmed as having JOAG. Myocilin (MYOC), optineurin (OPTN), and WD repeat-domain 36 (WDR36) were screened for sequence alterations, by PCR and direct sequencing. Subsequently, a genome-wide scan was performed (Prism Linkage Mapping Set MD-10; Applied Biosystems, Inc., Foster City, CA). Two-point and multipoint linkage analyses were performed with the MLINK, ILINK, and LINKMAP programs. For fine mapping, additional markers flanking the most promising region on 15q were analyzed. The significance of the lod score was tested with simulation analyses by using FASTLINK. Haplotypes were constructed with Simwalk2. Three candidate genes, NR2E3, SMAD6, and CLN6, located within the critical region, were screened for mutations. RESULTS: MYOC, OPTN, and WDR36 mutations were excluded in all family members. A maximum two-point lod score of 3.31 at theta = 0.0 was obtained for the marker D15S125. Four adjacent markers, rs2030040, rs169169963, D15S153, and D15S131, gave two-point lod scores of 2.41, 2.90, 3.02, and 2.68, respectively, at theta = 0.0. Haplotype analysis and recombination mapping further confined this region to 15q22-q24 within a genetic distance of 16.6 Mb flanked by D15S1036 and rs922693. No mutations were found in the coding exons and splicing junctions of NR2E3, SMAD6, and CLN6. CONCLUSIONS: The results provide evidence for the mapping of a novel locus for JOAG at 15q22-q24. A further search for the disease-causing gene in this new JOAG locus is in progress.

Adolescent↗

PubMed2005

Comparison of macular and peripapillary measurements for the detection of glaucoma: an optical coherence tomography study.

OBJECTIVE: To evaluate macular nerve fiber layer (NFL) thickness in glaucomatous damage by optical coherence tomography (OCT) and to compare its discriminating power for glaucoma and glaucoma suspects with that of total macular thickness and peripapillary NFL thickness. DESIGN: Cross-sectional, case-control, comparative study. PARTICIPANTS: A total of 133 eyes from 133 subjects including 46 normal eyes, 48 glaucoma-suspect eyes, and 39 glaucoma eyes were enrolled. METHODS: Macular NFL thickness, total macular thickness, and peripapillary NFL thickness were measured by Stratus OCT in each diagnostic group. MAIN OUTCOME MEASURES: The patterns and measurements of macular NFL, total macular, and peripapillary NFL thickness in total mean, 4 quadrants, and 12 clock hours. The discriminating power of each parameter for detection of glaucoma suspects and glaucoma was evaluated by areas under the receiver operating characteristic curve (AROC). Correspondence with visual field function was studied by linear regression analysis. RESULTS: The macular NFL profile exhibited a double-hump pattern with peaks over superonasal and inferonasal sectors. A significant difference in macular NFL thickness between normal and glaucoma-suspect groups was found at the 6-o'clock position, whereas a difference was found in all except the temporal clock hours between normal and glaucoma subjects. No significant difference in AROCs for detection of glaucoma suspects or glaucoma was found when macular NFL thickness and total macular thickness measurements were compared. However, mean macular NFL thickness demonstrated a stronger correlation with visual function than mean macular thickness (r = 0.39/R2 = 0.15 vs. r = 0.23/R2 = 0.05, P =0.042). Among all the findings, inferior peripapillary NFL thickness had the best performance in discriminating glaucoma (AROC, 0.91) and glaucoma suspects (AROC, 0.67). It also had the strongest correlation with visual function (r = 0.60/R2 = 0.36, P<0.001). CONCLUSIONS: Macular NFL thickness was significantly reduced in glaucoma. It had a similar discriminating power for glaucoma detection but a stronger correlation with visual function than total macular thickness. Peripapillary NFL thickness, however, outperformed both total macular and macular NFL thickness in terms of glaucoma detection and visual function correlation. Peripapillary NFL thickness, as a total measurement of both macular and peripheral NFL, is still the best surrogate marker in glaucoma assessment.

Case-Control Studies↗

PubMed2005

Visualization of anterior chamber angle dynamics using optical coherence tomography.

PURPOSE: To describe the technology of optical coherence tomography (OCT) in imaging the anterior chamber angles and its impact on understanding the pathophysiology of angle-closure glaucoma (ACG). DESIGN: Observational case series. PARTICIPANTS: Three subjects with, respectively, impending angle-closure attack, plateau iris syndrome, and phacomorphic glaucoma were recruited. METHODS: The anterior chamber angle in each patient was imaged with a commercially available OCT unit. The angle configurations were assessed and compared before and after laser peripheral iridotomy (LPI) and argon laser peripheral iridoplasty (ALPI). MAIN OUTCOME MEASURES: Visualization of the changes in the anterior chamber angle configurations and normalization of the intraocular pressure (IOP). RESULTS: A patient with impending angle-closure attack precipitated by a topical mydriatic agent was treated with LPI. Optical coherence tomography imaging of the anterior chamber angles was performed before and after the laser procedure. Conversion of anterior iris bowing and angle crowding to iris straightening and angle opening after LPI was demonstrated. Intraocular pressure became normalized with the change in angle configuration. The second patient presented with symptoms of intermittent angle-closure attacks and was initially diagnosed with primary ACG. Despite successful LPI, the angles remained occludable, and the IOP continued to be elevated. Optical coherence tomography was used to review the anterior chamber angle configuration and demonstrated a typical pattern compatible with the diagnosis of plateau iris syndrome. Subsequent ALPI converted the plateau configuration to open angle, with normalization of IOP and disappearance of symptoms. The third patient presented with an acute angle-closure attack and was diagnosed with phacomorphic glaucoma. Argon laser peripheral iridoplasty was performed successfully to open the angle, as evident by the OCT images, and the IOP was brought under control, together with relief of symptoms. CONCLUSIONS: The commercially available OCT unit can be practically employed for anterior chamber angle imaging. The different patterns of angle configurations are correlated with the underlying pathophysiology in different forms of ACG.

Aged↗