Phenotypic variability of pigment dispersion syndrome in children.
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Anterior Eye Segment↗
Biomedical subjects
Robert Ritch
Publications and source records attributed to Robert Ritch.
Visual field and intraocular pressure asymmetry in the low-pressure glaucoma treatment study.
OBJECTIVE: To explore the relationship between asymmetric baseline intraocular pressure (IOP) and asymmetric visual field (VF) loss in the Low-Pressure Glaucoma Treatment Study. DESIGN: Randomized, multicenter, controlled clinical trial. PARTICIPANTS: Low-pressure glaucoma (LPG) patients 30 years or older were identified. Exclusion criteria included an untreated pressure > 21 mmHg, advanced VF loss, and contraindications to study medications. INTERVENTIONS: A baseline VF was created using the average of 2 reliable Humphrey full-threshold examinations. A baseline diurnal IOP curve was performed without IOP-lowering medication. MAIN OUTCOME MEASURES: Mean diurnal, peak, trough, IOP range (peak - trough), and standard deviation (SD) of IOP measurements, and mean deviation (MD) and corrected pattern SD (CPSD) of VF examinations. RESULTS: One hundred ninety patients were enrolled (mean age, 64.9+/-10.7 years). Mean deviation and CPSD were not correlated with mean, peak, trough, or peak minus trough (P - T) IOP (Ps = 0.2-0.9). Among patients with unilateral VF loss (n = 53 [27.9%]), there were no differences (Ps = 0.3-0.9) in any IOP parameter between the normal VF eye and fellow glaucomatous eyes. Among patients with bilateral VF loss (n = 137 [72.1%]), mean, peak, trough, and P - T IOPs were similar in eyes with a better VF MD compared with eyes with a worse VF MD (Ps = 0.2-0.7). Cross-classified contingency tables demonstrated no relationship (Ps = 0.1-0.3) between IOP and VF MD or CPSD using chi-square analysis. CONCLUSIONS: Intraocular pressure asymmetry is unrelated to VF asymmetry in the Low-Pressure Glaucoma Treatment Study, suggesting an unclear pathogenic relationship between IOP and glaucomatous damage in eyes with LPG.
Adrenergic alpha-Agonists↗
Imaging of the optic disc and retinal nerve fiber layer in acute optic neuritis.
PURPOSE: To demonstrate whether optical coherence tomography (OCT-3) and scanning laser ophthalmoscopy (HRT-2) can be used to measure changes of the optic disc and peripapillary retinal nerve fiber layer (RNFL) in eyes with acute retrobulbar optic neuritis that have no clinically apparent optic disc swelling. To correlate these findings with presentation magnetic resonance imaging (MRI) of the affected optic nerve. METHODS: Eight consecutive patients with acute retrobulbar optic neuritis, who had no prior optic neuritis in either eye, were prospectively investigated at presentation and at between 1 and 3 months with clinical examination, OCT-3, HRT-2. At presentation, MRI of the optic nerves were performed in 7/8 patients. RESULTS: Compared to unaffected eyes, affected eyes without clinically seen optic disc swelling at baseline, there was a non-significant trend to increased thickness in the total RNFL, superior and nasal measurements. Baseline HRT in affected eyes showed smaller mean cup to disc ratio (p=0.003) and a smaller cup area (p=0.002) compared with the unaffected eye. The MRI-demonstrated optic nerve lesion did not correlate with OCT RNFL thickening or HRT decrease of the physiological cup. Follow-up imaging of the affected eyes showed normalization of HRT cup size parameters and OCT RNFL thickness (p<0.04). At follow-up, the temporal RNFL had thinning in 7/8 affected eyes (46.8 mum, p=0.021) compared with fellow unaffected eyes (57.8 mum), which did not change. CONCLUSION: OCT-3 and HRT demonstrate mild RNFL thickening or optic disc swelling in acute optic neuritis, even when swelling is not seen clinically. OCT-3 appears to reveal measurable RNFL thinning in the temporal quadrant after retrobulbar optic neuritis, even though vision improves. RNFL imaging may be useful in future studies of residual injury after optic neuritis.
Acute Disease↗
Further support of the role of CYP1B1 in patients with Peters anomaly.
PURPOSE: Peters anomaly is a developmental anomaly of the eye frequently associated with glaucoma. The aim of this study was to further define the molecular basis of this condition. METHODS: The role of four candidate genes implicated in ocular development or glaucoma, PAX6, PITX2, MYOC, and CYP1B1, was studied in 15 patients with Peters anomaly. Mutational analysis used a combination of single strand conformation polymorphism (SSCP) and direct cycle sequencing. RESULTS: Four mutations in CYP1B1 were found in 3/15 (20%) affected individuals compared with 1/140 (0.7%) control individuals. CONCLUSIONS: This study supports the role of CYP1B1 as a causative gene in Peters anomaly. Furthermore, this emphasizes the broad range of phenotypic expression for CYP1B1 mutations, and its role in eye development.
Arginine↗
A genome-wide scan maps a novel juvenile-onset primary open angle glaucoma locus to chromosome 5q.
PURPOSE: To map the disease-associated locus of a family with autosomal dominant juvenile-onset primary open angle glaucoma (JOAG) and to screen the novel glaucoma gene WD repeat domain 36 (WDR36). METHODS: Complete ophthalmic examination and genomic DNA were obtained from 27 family members, in which nine were confirmed JOAG patients. Myocilin (MYOC), optineurin (OPTN), and WDR36 were screened for mutations by polymerase chain reaction and direct sequencing. Genome-wide scanning was carried out using the ABI PRISM Linkage Mapping Set MD-10. 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 chromosome 5q were also analyzed. The significance of LOD scores was tested with simulation analyses using FASTLINK. Haplotypes were constructed using Simwalk2. RESULTS: MYOC or OPTN mutations were excluded in all family members. A maximum LOD score value of 4.82 at theta=0.00 was obtained for the marker D5S2011. Markers D5S2065, D5S1384, D5S471, D5S503, D5S2098, and D5S638 had LOD score values over 4.0 at theta=0.00. Haplotype analysis and recombination mapping further confined this region to 5q22.1-q32 within a region of 36 Mb flanked by D5S2051 and D5S2090. Screening of the novel WDR36 glaucoma-associated gene, which lies centromeric to the disease interval, revealed no mutations within any of the 23 coding exons or splicing junctions. CONCLUSIONS: Our results provided the mapping of a novel locus for JOAG at 5q and excluded coding or splicing junctions mutations within the WDR36 gene.
Adolescent↗
Angle closure in highly myopic eyes.
PURPOSE: Patients with angle-closure glaucoma and high myopia are uncommon. We evaluated the clinical characteristics of all patients with angle closure and high myopia in our database and propose possible mechanisms for angle closure in these atypical patients. DESIGN: Retrospective noncomparative case series. PARTICIPANTS: Our database of 17938 patients was searched for patients with myopia of spherical equivalent of more than -6.0 diopters and angle closure. Data recorded included age at time of initial consultation, gender, slit-lamp examination results, gonioscopy results, biometric parameters, ultrasound biomicroscopy results (from 1993 onward), clinical diagnosis, and therapy. RESULTS: Twenty patients (11 females, 9 males) were identified. Mean age at the time of consultation was 52.9+/-19.3 years. Angle-closure diagnoses included primary pupillary block (9 patients), pupillary block in an eye with keratoconus (1 patient), pupillary block secondary to a pupillary membrane associated with retinopathy of prematurity (1 patient), plateau iris configuration and syndrome (3 patients), phacomorphic glaucoma in Weill-Marchesani syndrome (2 patients), malignant glaucoma secondary to a scleral buckle (2 patients), miotic-induced angle closure (1 patient), and Marfan syndrome (1 patient). CONCLUSIONS: Angle closure can occur in eyes with high myopia. Causes of angle closure other than relative pupillary block are more common than in the general angle-closure glaucoma population. Careful gonioscopy accompanied by biometry and ultrasound biomicroscopy can lead to the correct diagnosis and individualized management in these eyes.
Adult↗
Ultrasound biomicroscopy in asymmetric pigment dispersion syndrome and pigmentary glaucoma.
OBJECTIVE: To identify differences in anterior chamber anatomy among patients with asymmetric pigment dispersion syndrome and no other discernible cause for the asymmetry. METHODS: Ultrasound biomicroscopy and A-scan biometry were performed on both eyes of 13 patients with asymmetric pigment dispersion syndrome without a known cause for asymmetric involvement. A radial perpendicular image in the horizontal temporal meridian detailing the scleral spur, angle anatomy, and iris configuration was obtained for each eye by 2 examiners. RESULTS: There were no differences in lens thickness (P = .33), refractive error (P = .84), or axial length (P = .99) between more and less affected eyes. However, the mean +/- SD iris concavity (P<.001), iris-lens contact distance (P = .02), and distance from the scleral spur to the iris insertion (0.42 +/- 0.11 vs 0.29 +/- 0.06 mm) (P = .002) were greater in the more affected eye of each patient. CONCLUSION: A more posterior iris insertion predisposes to the phenotypic expression of pigment dispersion syndrome.
Adult↗
The ISNT rule and differentiation of normal from glaucomatous eyes.
OBJECTIVE: To determine whether the ISNT rule (that normal eyes show a characteristic configuration for disc rim thickness of inferior > or = superior > or = nasal > or = temporal), widely used for clinical evaluation of the optic nerve head, can differentiate normal from glaucomatous eyes. METHODS: All subjects underwent complete eye examination, including achromatic automated perimetry, simultaneous stereoscopic disc photography, and confocal scanning laser ophthalmoscopy. Subjects with normal eyes had no evidence of glaucoma or ocular hypertension and had normal perimetry measurements. Subjects with glaucoma had a reproducible visual field defect. One eye from each subject was randomly enrolled. The ISNT rule was assessed by masked evaluation of disc photographs at the 3, 6, 9, and 12 o'clock positions. RESULTS: Sixty-six subjects with normal eyes (33 black and 33 white individuals) and 43 with open-angle glaucoma (15 black and 28 white individuals) were enrolled. The ISNT rule was intact in 52 (79%) of 66 normal eyes and 12 (28%) of 43 glaucomatous eyes (P<.001). Multiple logistic regression indicated that the odds ratio for glaucoma associated with violation of the ISNT rule was 6.04 (95% confidence interval, 1.74-20.95) after adjustment for age; race was not a confounder of this association. CONCLUSION: The ISNT rule is useful in differentiating normal from glaucomatous optic nerves and is unaffected by race.
Adult↗
Effect of eye testing order on automated perimetry results using the Swedish Interactive Threshold Algorithm standard 24-2.
OBJECTIVE: To evaluate whether the order of eye testing affects the mean deviation (MD) or the test reliability of visual field testing using the Swedish Interactive Threshold Algorithm (SITA) standard 24-2. METHODS: Consecutive patients with manifest or suspect glaucoma with 2 prior sets of SITA standard 24-2 test results performed on the right eye first were enrolled. A subsequent test was performed on the left eye first. For each eye, the MD and the test reliability indexes (> or = 20%) were compared among the 3 successive examinations. RESULTS: Forty-seven patients (29 women and 18 men; mean +/- SD age, 70.6 +/- 11.9 years) were enrolled. The MD +/- SD was -5.83 +/- 5.43 dB OD and -5.46 +/- 4.86 dB OS. There was no statistically significant difference in the MD or the test reliability among the 3 test results for either eye. Fixation loss was responsible for the unreliable fields in almost all cases. CONCLUSIONS: Among this cohort of patients experienced with automated perimetry in a glaucoma subspecialty practice, changing the order of eye testing using the SITA standard 24-2 did not have a significant effect on the MD or the test reliability. Intereye fatigue may not be clinically significant with this algorithm. Fixation loss remains a problem with the use of this algorithm.
Aged↗
Clinical utility of intraocular pressure monitoring outside of normal office hours in patients with glaucoma.
OBJECTIVE: To determine whether intraocular pressure (IOP) monitoring outside of normal office hours adds clinically useful information. METHODS: We reviewed the records of all patients with glaucoma who were admitted for 24-hour IOP monitoring during 3 years. Applanation IOP was recorded in the sitting position from 7 am until midnight and in the supine position at 6 am. RESULTS: Thirty-two patients (22 women and 10 men) were enrolled (mean +/- SD age, 67.3 +/- 12.1 years). Mean +/- SD 24-hour IOP was 13.0 +/- 2.2 mm Hg. Mean +/- SD peak 24-hour IOP (16.8 +/- 3.2 mm Hg) was significantly higher than peak office IOP (14.7 +/- 3.2 mm Hg) (P<.001). Peak IOP was recorded outside of office hours in at least 1 eye in 22 patients (69%). Mean IOP fluctuation during 24-hour monitoring (6.9 +/- 2.9 mm Hg) was significantly greater than that during office hours (3.8 +/- 2.3 mm Hg) (P<.001). Peak 24-hour IOP was higher than the peak IOP noted during previous office visits in 40 eyes (62%). Results of 24-hour IOP monitoring led to immediate treatment change in 23 eyes (36%). CONCLUSIONS: In glaucoma patients with advanced disease or progression that are disproportionate to known IOP measurements, 24-hour monitoring of IOP may reveal a greater role for pressure-related risk for glaucoma progression than previously suspected and may alter treatment strategies.
Aged↗
Surgical reduction of symptomatic, circumferential, filtering blebs.
We describe methods and outcomes of surgical reduction of symptomatic, circumferential, filtering blebs after trabeculectomy with antifibrotic agents. The medical records of 15 eyes of 14 patients with symptomatic, circumferential blebs who underwent surgical bleb reduction for bleb dysesthesia under topical anesthesia were reviewed. Each bleb was incised segmentally and the cut edges of the conjunctiva and Tenon capsule were sutured to the underlying sclera. Outcome measures included symptomatic relief, retention of bleb function, and intraocular pressure maintenance. Fourteen eyes had successful reduction of bleb size, symptomatic relief, and cosmetically acceptable appearance. One eye continued to have dysesthesia and 1 had a transient bleb leak that resolved spontaneously. Surgical reduction of circumferential, symptomatic, filtering blebs is a safe and effective technique to reduce bleb dysesthesia and improve cosmesis without loss of bleb function.
Aged↗
Pattern of trabecular surface pigment deposition in primary angle closure.
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Glaucoma, Angle-Closure↗
Intraocular pressure variation during weight lifting.
OBJECTIVE: To evaluate the effect of weight lifting on intraocular pressure (IOP). METHODS: Subjects performed 4 repetitions of a bench press exercise in 2 ways: in mode I (right eyes), the breath was held during the last repetition; in mode II (left eyes), subjects exhaled normally during the last repetition. The IOP was measured with an electronic tonometer during the fourth repetition in both modes while the subject sustained the exercise. RESULTS: Mean IOP during exercise in mode I increased by 4.3 +/- 4.2 mm Hg (P<.001, paired t test; range, -3.6 to 17.7 mm Hg). In mode II, mean IOP increased by 2.2 +/- 3.0 mm Hg (P<.001, paired t test; range, -6.0 to 8.7 mm Hg). The IOP increased in 90% of subjects in mode I and in 62% in mode II. An increase in IOP greater than 5.0 mm Hg was observed in 9 subjects (30%) in mode I and in 6 (21%) in mode II. In 2 subjects, IOP during exercise mode I was markedly increased (>10.0 mm Hg). CONCLUSIONS: The IOP increases significantly during a bench press exercise. Breath holding during the exercise leads to a greater IOP increase.
Adolescent↗
Sutureless revision of overhanging filtering blebs.
We describe methods and outcomes of a technique for sutureless surgical revision of symptomatic corneal overhanging filtering blebs after trabeculectomy using mitomycin in 6 eyes in 6 patients. Separation of the bleb from the corneal surface was achieved by blunt or sharp dissection, as necessary, and the overhanging portion of the bleb was excised and a bandage contact lens was inserted. Outcome measures included symptomatic relief, retention of bleb function, and maintenance of intraocular pressure. Five eyes (83.3%) demonstrated symptomatic relief and a cosmetically acceptable appearance. One patient continued to have dysesthesia, and 1 patient had bleb leak that required suture repair. Sutureless surgical revision of overhanging filtering blebs is a safe and effective technique to reduce bleb-related dysesthesia and improve cosmesis without compromising filtration function.
Aged↗
Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His.
Age-related macular degeneration (AMD) is the most common cause of irreversible visual loss in the developed world. Previous studies have demonstrated that the c.1204T>C, p.Tyr402His allelic variant in the complement factor H (CFH) gene is associated with an approximately three-fold increased risk for AMD in Caucasians of predominantly European descent. Both the prevalence as well as the phenotypic spectrum of AMD varies widely among persons of different ethnicities. We hypothesized that populations with a lower prevalence of AMD might also have a lower prevalence of the CFH risk allele. In this study we sought to determine the frequency of this sequence variant in control populations of Caucasians, African Americans, Hispanics, Somalis, and Japanese. Normal control populations were assembled for each ethnic group: Caucasian (n=148), Somali (n=128), African American (n=75), Hispanic (n=81), and Japanese (n=82). Individuals were genotyped using a restriction digest assay and the frequency of the C allele at nucleotide position 1204 of the CFH gene was determined. A bioinformatic approach was used to identify SNPs in linkage disequilibrium with rs1061170 (c.1204T>C, p.Tyr402His) from the human haplotype map project database (HapMap) in order to validate the findings. We found widely discordant frequencies of the risk allele between some of the different ethnic groups: Japanese 0.07+/-0.02, Hispanics 0.17+/-0.03, African-Americans 0.35+/-0.04, Caucasians 0.34+/-0.03, and Somalis 0.34+/-0.03. Allele frequencies generated by analysis of the HapMap database were consistent with these findings. This study suggests that there are other yet unidentified genetic factors important in the pathogenesis of AMD that may mitigate the effects of c.1204T>C, p.Tyr402His variant.
Aged↗
Identification of retained nucleus fragment in the posterior chamber using ultrasound biomicroscopy.
PURPOSE: To describe the use of ultrasound biomicroscopy (UBM) to image retained nuclear fragments posterior to the iris plane after uncomplicated phacoemulsification with posterior chamber intraocular lens (PCIOL) implantation in two patients. DESIGN: Interventional case report. METHODS: Two patients presented with an iris elevation after uncomplicated phacoemulsification and lens implantation. RESULTS: Visual acuity was 20/20 in the first patient and 20/30 in the second. There was no anterior chamber inflammation in either eye. UBM revealed a small, retained nuclear fragment between the iris pigment epithelium and the anterior lens capsule, causing localized anterior iris displacement in both patients. The PCIOL was within the capsular bag, and the iris root and ciliary body were normal in both patients. CONCLUSION: UBM can demonstrate retained lens fragments within the posterior chamber.
Aged↗
Measurements of optic disk size with HRT II, Stratus OCT, and funduscopy are not interchangeable.
PURPOSE: To assess the interchangeability of optic disk size measurements using slit-lamp funduscopy, optical coherence tomography (OCT-3), and confocal scanning laser ophthalmoscopy (HRT-II) in clinical practice. DESIGN: Prospective nonrandomized clinical study. METHODS: Measurements of vertical disk diameter (VDD) were obtained with the three methods. Disk area was obtained from OCT and HRT printouts. True agreement between methods in measuring VDD was assessed using Bland-Altman graphs and 95% limits of agreement (LoA). Disks were classified as small, average, or large, and agreement between methods in this classification was assessed using kappa statistics. RESULTS: Forty-eight patients were enrolled (mean age 53.4 +/- 14.3 years). VDD (mean +/- SD) was 1.58 +/- 0.15, 1.70 +/- 0.22, and 1.90 +/- 0.24 mm with funduscopy, HRT, and OCT, respectively. Very large LoA were observed: -0.29 to 0.70 mm for OCT and HRT, -0.07 to 0.71 mm for OCT and funduscopy, and -0.29 to 0.53 mm for HRT and funduscopy. There was poor agreement (kappa < 0.4) in classification of disk size as small, average, or large whether disk diameter or area was compared and using two definitions of disk size. CONCLUSIONS: We observed a large range of differences in estimating disk size with HRT, OCT, and funduscopy. This precludes interchangeable use of these measurements in clinical practice, and does not allow simple conversion formulas to be proposed. In addition, there is poor agreement between these methods in classifying disk size as small, average, or large. At present, estimation of both absolute and relative disk size can only be defined separately for each measurement modality.
Anthropometry↗
Rescue of failed filtering blebs with ab interno trephination.
We evaluated the effectiveness of ab interno automated trephination as a technique for rescuing failed mature filtering blebs. A retrospective chart review of 40 failed blebs of 38 patients who had a posttrephination follow-up period of at least 3 months was done. With success defined as intraocular pressure (IOP) <21 mm Hg and at least a 20% reduction from baseline on the same or fewer number of pretrephination medications, 30/40 eyes (75%) fit these criteria over the entire course of follow-up. Among all 40 eyes, there was a significant reduction of IOP from pretrephination to 3 months (P<.001). The percentage of patients requiring 2 or more medications declined from 90% pretrephination to 21% at 3 months (P<.0001), and was stable thereafter. Some patients were able to eliminate all medications. Patients who did not meet the criteria of success regained successful IOP control with other modalities of management. Complications were few. We believe that ab interno trephination is an excellent option for rescuing selected failed filtering blebs.
Adult↗