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At least 487 records · Page 27Linked to original sources
PubMed1998

Macular function testing in a German pedigree with North Carolina macular dystrophy.

BACKGROUND: Our purpose was to investigate central visual function in North Carolina macular dystrophy (MCDR1). A German family with genetically proven MCDR1 was followed for more than 20 years. METHODS: In addition to routine clinical examinations, static and kinetic fundus perimetry was performed with the scanning laser ophthalmoscope. The center of fixation was determined. RESULTS: Visual acuity was 0.6 or better in all but one eye of seven members of this family and did not markedly change during follow-up. Fundus examination confirmed that the fixation was at the nasal edge of the central scar in five affected eyes with reduced stability of fixation. One eye had a prominent gliotic membrane, and fixation was within this area. CONCLUSIONS: Patients had nearly normal visual acuity even though they presented with deep central scotomas and a shift of the center of fixation away from the fovea. Because MCDR1 has good long-term functional prognosis, there might be an early transdifferentiation of the new locus of fixation.

Adolescent↗
PubMed2000

The uniform field and pattern ERG in macaques with experimental glaucoma: removal of spiking activity.

PURPOSE: To determine whether the uniform field and pattern ERGs that are reduced in macaque eyes with experimental glaucoma have the same inner-retinal origins. METHODS: ERGs were recorded from 14 anesthetized adult macaques using DTL electrodes. Six monkeys had laser-induced experimental glaucoma, and two others received intravitreal injections of tetrodotoxin (TTX, 6 microM) to block spiking activity of inner-retinal neurons. The remaining 6 animals were normal. Uniform fields and grating patterns (0.1-3 cpd) were square-wave modulated at 1.7 Hz (transient) and 8 Hz (steady state). The test field (42 degrees x 32 degrees) had a mean luminance of 44 cd/m2 and a contrast of 10% to 82%. RESULTS: In normal eyes transient ERGs to uniform fields contained photopic negative responses (PhNR) after the b-wave and after the d-wave. Transient pattern electroretinograms (PERGs) at each contrast reversal showed positive (P50) potentials followed by negative (N95) potentials of time course similar to that of the PhNR. The PhNR and N95 were greatly reduced or eliminated by experimental glaucoma and by TTX. Summing responses to luminance increments and decrements of the uniform field could simulate the PERG to low spatial frequency stimuli. Further, the PERG responses to high spatial frequencies were similar to the simulation in shape but slightly delayed in time. Experimental glaucoma and TTX had similar effects on the N95 of the simulated PERG as to those on the actual PERG. However, P50 was more reduced by experimental glaucoma than by TTX, indicating a nonspiking contribution to P50. For the steady state condition, the uniform field ERG, the simulated PERG, and the actual PERG all were affected by experimental glaucoma and TTX, indicating that they contained contributions from the spiking activity of ganglion cells. CONCLUSIONS: The changes in the uniform field and PERG responses produced by experimental glaucoma are related and are largely a consequence of reduced spiking activity of ganglion cells and their axons. These findings raise the possibility that the uniform field ERG could serve as a useful alternative to the PERG in the assessment of clinical glaucomatous neuropathy.

Animals↗
PubMed1980

Changes of glaucomatous field defects. Degree of accuracy of measurements with the automatic perimeter Octopus.

The analytical programme Delta was used to determine longterm fluctuation and accuracy of measurement of the programme 31 of Octopus when used on glaucoma patients. Programme 31 examines the 30 degrees field. The test locations are arranged in a square grid with 6 degrees resolution. The programme Delta determines and compares 1) the disturbed area in %; 2) the total loss, the total sensitivity being around 2000 dB; 3) the loss in dB per mean number of disturbed points. Thirty-two eyes of 22 patients with established glaucomatous field defects were examined twice within two to six days and two months later again twice. The size of the disturbed area served for classification of our sample into three groups: 1st group: disturbed area 1-33%; 2nd group: disturbed area 34-66%; 3rd group: disturbed area 67-100%. Long-term fluctuations and accuracy of measurement could be determined as respectively follows: 1) Disturbed area between 0.7 +/- 8% in group 3 and 1.7 +/- 13% in group 2. 2) The total loss increases proportionately to the disturbed area and was 4.9 +/- 29.2 dB in group 1 and 31.8 +/- 82.4 dB in group 3. 3) The total loss per mean number of disturbed points was 0.5 +/- 2 dB in group 1 and 0.3 +/- 1.2 dB in group 2. This signifies that if the learning effect is over, changes of more than 2 dB, especially if several adjacent points are affected, are a significant loss. The learning effect, as determined in an earlier study, may go up as high as 2 dB per point.

Adult↗
PubMed2000

Photopic negative response of the human ERG: losses associated with glaucomatous damage.

PURPOSE: To evaluate in glaucomatous eyes the photopic electroretinogram (ERG) negative response (PhNR), a component that follows the b-wave peak and is thought to be correlated with inner retinal activity. METHODS: Eleven patients with open-angle glaucoma (OAG) and moderate field loss (Humphrey 30-2 [Humphrey Instruments, San Leandro, CA] mean deviation < or = -6 dB), eight with ocular hypertension (OHT), and eight age-matched normal subjects were tested. Optic discs of patients and control subjects were evaluated by confocal scanning laser ophthalmoscopy. ERGs were recorded to long-duration stimuli (250 msec) of photopic luminance (78 candelas [cd] /m2), presented in the macular region (12 degrees x 12 degrees field size) on a steady, adapting background. Amplitudes of the a-wave and b-wave and the PhNR were measured. Pattern reversal ERGs to 30-minute checkerboards were also recorded from patients and control subjects. RESULTS: Compared with control subjects, patients with OAG showed reduced PhNR (average reduction: 62%, P < 0.01), but normal a- and b-wave amplitudes. In patients with OHT, PhNR and a- and b-wave amplitudes did not differ from control values. In individual patients with OAG, PhNR amplitudes were correlated positively with pattern ERG amplitudes (r = 0.80; P < 0.01) and central (12 degrees) perimetric mean deviations (r = 0.68; P < 0.05) and negatively with cup-to-disc area ratios (r = -0.79; P < 0.01) and cup shape measures (r = -0.78; P < 0.01). CONCLUSIONS: Similar to that found in monkeys with experimentally induced glaucoma, the PhNR is selectively altered in human glaucoma. The correlation between PhNR losses and clinical parameter abnormalities suggests that this component depends on inner retina integrity and may be of clinical value for detecting glaucomatous damage.

Adult↗
PubMedDate not supplied

How spatial orientation of Japanese text affects fixation points in patients with bilateral macular atrophy.

PURPOSE: To ascertain the retinal area used by patients with bilateral macular atrophy when reading Japanese text of different character sizes written horizontally or vertically. In addition, to determine fixation points as part of the first of a series of studies designed ultimately to enhance the quality of life of these patients through the improvement of reading acuity. METHODS: Seventeen patients (34 eyes) with bilateral macular atrophy were tested to determine the retinal area employed for reading (R fixation point). Sentences were arranged either horizontally or vertically and projected onto the retina using a scanning laser ophthalmoscope. We also determined the fixation point using microperimetry (M fixation point). The positional relationships between these two fixation points and the scotoma were examined. RESULTS: The R and M fixation points were the same in 20 of the 34 eyes. Multiple R fixation points were found in 11 eyes. The R fixation point was frequently positioned above the lesion when reading horizontally (nine eyes), while it was often positioned in the area nasal to (eight eyes) or temporal to (six eyes) the lesion when reading vertically. CONCLUSIONS: Fixation points changed frequently in these patients with bilateral macular atrophy depending on the spatial orientation of the text. These data should be used in the future to help patients learn how to use the preferred retinal locus to improve their reading skills and enhance their quality of life.

Adolescent↗
PubMed2006

Evaluation of a two-stage neural model of glaucomatous defect: an approach to reduce test-retest variability.

PURPOSE: The purpose of this study is to model perimetric defect and variability and identify stimulus conditions that can reduce variability while retaining good ability to detect glaucomatous defects. METHODS: The two-stage neural model of Swanson et al. was extended to explore relations among perimetric defect, response variability, and heterogeneous glaucomatous ganglion cell damage. Predictions of the model were evaluated by testing patients with glaucoma using a standard luminance increment 0.43 degrees in diameter and two innovative stimuli designed to tap cortical mechanisms tuned to low spatial frequencies. The innovative stimuli were a luminance-modulated Gabor stimulus (0.5 c/deg) and circular equiluminant red-green chromatic stimuli whose sizes were close to normal Ricco's areas for the chromatic mechanism. Seventeen patients with glaucoma were each tested twice within a 2-week period. Sensitivities were measured at eight locations at eccentricities from 10 degrees to 21 degrees selected in terms of the retinal nerve fiber bundle patterns. Defect depth and response (test-retest) variability were compared for the innovative stimuli and the standard stimulus. RESULTS: The model predicted that response variability in defective areas would be lower for our innovative stimuli than for the conventional perimetric stimulus with similar defect depths if detection of the chromatic and Gabor stimuli was mediated by spatial mechanisms tuned to low spatial frequencies. Experimental data were consistent with these predictions. Depth of defect was similar for all three stimuli (F = 1.67, p > 0.19). Mean response variability was lower for the chromatic stimulus than for the other stimuli (F = 5.58, p < 0.005) and was lower for the Gabor stimulus than for the standard stimulus in areas with more severe defects (t = 2.68, p < 0.005). Variability increased with defect depth for the standard and Gabor stimuli (p < 0.005) but not for the chromatic stimulus (slope less than zero). CONCLUSIONS: Use of large perimetric stimuli detected by cortical mechanisms tuned to low spatial frequencies can make it possible to lower response variability without comprising the ability to detect glaucomatous defect.

Color Perception↗
PubMed2004

Impact of cataract on the results of frequency-doubling technology perimetry.

PURPOSE: To determine the effect of cataract on the results of frequency-doubling technology (FDT) perimetry. DESIGN: Consecutive cohort study. PARTICIPANTS: Forty-four patients with normal ophthalmic examinations, with the exception of cataract, scheduled to undergo phacoemulsification and posterior chamber lens implantation were prospectively identified and completed the study. METHODS: All subjects underwent FDT perimetry using the full-threshold C-20 strategy. Both eyes were tested within 1 month before cataract surgery and up to 3 months after surgery. The unoperated fellow eyes served as controls. MAIN OUTCOME MEASURES: Changes in visual acuity (VA), mean deviation (MD), and pattern standard deviation (PSD) were evaluated. For each subject, the change in MD and PSD in the eye that underwent cataract surgery was adjusted for change in the control eye that is thought to occur due to a learning effect. RESULTS: Among the eyes that underwent cataract surgery, the median preoperative VA was 20/60 (range, 20/30-20/800) and the mean preoperative MD was -4.00+/-3.72 decibels (dB). Postoperatively, the median VA improved to 20/30 (range, 20/20-20/70) and the mean postoperative MD was -0.26+/-3.09 dB (P<0.001). Among the control eyes, MDs were -1.74+/-3.71 dB preoperatively and -0.94+/-3.85 dB postoperatively (P = 0.019). The adjusted improvement in MD among eyes that underwent cataract surgery was 2.94+/-3.44 dB (P<0.001). There was no significant change in PSD. Preoperative VA correlated significantly with preoperative MD (r = 0.39, P = 0.01). The improvement in VA correlated significantly with the adjusted improvement in MD (r = 0.38, P = 0.01). CONCLUSIONS: Cataract has an adverse effect on the MD but not the PSD in FDT perimetry. Among eyes with visually significant cataract, the MD correlates significantly with VA. After cataract surgery, the change in VA correlates significantly with the adjusted change in MD.

Adult↗
PubMed1998

Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.

PURPOSE: To define the phenotypes of retinal degenerations associated with mutations in the gene encoding CRX (cone-rod homeobox), a photoreceptor-specific transcription factor. METHODS: Heterozygotes with the E168 [delta1 bp], E168 [delta2 bp], or G217 [delta1 bp] CRXgene mutation were studied clinically, with visual function tests, including rod and cone perimetry and electroretinography (ERG), and with optical coherence tomography (OCT). RESULTS: Clinical diagnoses included autosomal dominant cone-rod dystrophy in one family (E168 [delta1 bp] mutation) and simplex Leber congenital amaurosis in two families (E168 [delta2 bp], G217 [delta1 bp] mutations). In the family with the E168 [delta1 bp] mutation, two siblings had relatively mild disease expression in the third decade of life. The central retinas of these two patients had profound loss of rod and short wavelength cone function; long/middle wavelength cone thresholds were elevated at fixation, but there were greater paracentral than central abnormalities. Peripheral retinal dysfunction was evident by psychophysics and by maximum amplitude loss for rod- and cone-isolated ERG photoreceptor responses. OCT cross-sectional reflectance images showed decreased central retinal thickness consistent with photoreceptor loss. An additional member of this family (E168 [delta1 bp] mutation) and two other patients (representing E168 [delta2 bp] and G217 [delta1 bp] mutations) had a severe phenotype with retina-wide loss of function and islands of function remaining only in the temporal periphery. CONCLUSIONS: Truncation mutations in CRX are associated with retinopathies that share phenotypic features but vary in disease severity. The disease mechanism could involve abnormal photoreceptor development compounded by a disturbance in the maintenance of photoreceptors in the mature retina.

Adult↗
PubMed2006

Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.

PURPOSE: Identification of a novel rhodopsin mutation in a family with retinitis pigmentosa and comparison of the clinical phenotype to a known mutation at the same amino acid position. METHODS: Screening for mutations in rhodopsin was performed in 78 patients with retinitis pigmentosa. All exons and flanking intronic regions were amplified by PCR, sequenced, and compared to the reference sequence derived from the National Center for Biotechnology Information (NCBI, Bethesda, MD) database. Patients were characterized clinically according to the results of best corrected visual acuity testing (BCVA), slit lamp examination (SLE), funduscopy, Goldmann perimetry (GP), dark adaptometry (DA), and electroretinography (ERG). Structural analyses of the rhodopsin protein were performed with the Swiss-Pdb Viewer program available on-line (http://www.expasy.org.spdvbv/ provided in the public domain by Swiss Institute of Bioinformatics, Geneva, Switzerland). RESULTS: A novel rhodopsin mutation (Gly90Val) was identified in a Swiss family of three generations. The pedigree indicated autosomal dominant inheritance. No additional mutation was found in this family in other autosomal dominant genes. The BCVA of affected family members ranged from 20/25 to 20/20. Fundus examination showed fine pigment mottling in patients of the third generation and well-defined bone spicules in patients of the second generation. GP showed concentric constriction. DA demonstrated monophasic cone adaptation only. ERG revealed severely reduced rod and cone signals. The clinical picture is compatible with retinitis pigmentosa. A previously reported amino acid substitution at the same position in rhodopsin leads to a phenotype resembling night blindness in mutation carriers, whereas patients reported in the current study showed the classic retinitis pigmentosa phenotype. The effect of different amino acid substitutions on the three-dimensional structure of rhodopsin was analyzed by homology modeling. Distinct distortions of position 90 (shifts in amino acids 112 and 113) and additional hydrogen bonds were found. CONCLUSIONS: Different amino acid substitutions at position 90 of rhodopsin can lead to night blindness or retinitis pigmentosa. The data suggest that the property of the substituted amino acid distinguishes between the phenotypes.

Adult↗
PubMed1994

The influence of patient reliability on visual field outcome.

The reliability of subjects to perform to perimetry correctly should be carefully evaluated to interpret visual field examinations adequately. Clinicians generally agree that numerous false-positive responses to catch trials cause measured thresholds to be falsely high and numerous false-negative responses cause measured thresholds to be falsely low. We studied the effect of false-positive and false-negative responses on the outcome of visual field measurements. Of 47 eyes, the results of 106 stable glaucomatous visual field tests (Program G1, Octopus 201, Interzeag, Schlieren, Switzerland) with false-positive responses and no more than one false-negative response to catch trials were compared to the results of reliable visual field tests (no false-positive and no more than one false-negative response) performed on the same eye. Similarly, 60 stable visual fields with false-negative responses and no more than one false-positive response were used to study the effect of false-negative responses on visual field sensitivities. Linear regression analysis disclosed a mean sensitivity increase of 1.5 dB for every 10% of false-positive responses (r = .34, P = .000) and a mean sensitivity decrease of 1.2 dB for every 10% of false-negative responses (r = .26, P = .04). These results may be used to help reduce the magnitude of unexplained long-term fluctuation in visual field interpretation.

Adult↗
PubMed2004

Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus.

PURPOSE: To characterize the clinical and electroretinogram (ERG) features of our cohort of patients with Stargardt disease (STGD) exhibiting coding sequence variations in the ABCA4 gene. METHODS: Review of 76 patients with the clinical diagnosis of Stargardt disease/fundus flavimaculatus (STGD/FF) from the University of Iowa Department of Ophthalmology and Visual Sciences (41 patients) and the Casey Eye Institute (35 patients). Clinical examination, Goldmann perimetry, and electroretinography were performed on all 76 patients. Patients were divided into three groups on the basis of their funduscopic and electroretinographic features: (1) a normal ERG by the standards of the laboratory; (2) minimal rod or cone abnormalities; (3) severe ERG dysfunction. The latter category was further subdivided on the basis of a cone-dominated loss of function (C > R or "cone-rod dystrophy") or diffuse depression of rods and cones (C = R). Mutational analysis of the coding sequence of the ABCA4 gene was performed by single strand conformation polymorphism analysis followed by automated DNA sequencing. Each electroretinographic group was analyzed for the presence of disease causing changes using exact tests of binomial proportions corrected for multiple comparisons by Bonferroni method. Quantitative polymerase chain reaction (QPCR) was performed on patients who were homozygous for disease causing changes in the ABCA4 gene to rule out the possibility of deletions. RESULTS: Overall, 56 of 76 patients (and 77 of 152 alleles) exhibited coding sequence variations that were compatible with high-penetrance disease-causing mutations. The most common of these were His423Arg (9), frameshift mutations (7), Ala1038Val (7), and Pro1380Leu (6). Although no patients with His423Arg presented with normal ERGs, no significant correlation was observed between specific sequence variations and the electroretinographic characteristics or fundus appearance. However, a significantly greater fraction of patients with normal ERG studies failed to exhibit detectable disease-causing coding sequence variations in the ABCA4 gene identified on either allele (P = 0.0006). CONCLUSION: STGD/FF patients in our cohort exhibit a wide range of electroretinographic abnormalities, some of which are more prevalent than previously suspected. No direct correlation between clinical appearance, electrophysiologic characteristics and specific ABCA4 alleles could be identified, although a significantly lower number of our cohort with a normal ERG exhibited detectable coding sequence variations in the ABCA4 gene. However, four patients with ERG dysfunction were homozygous for a His423Arg change proven by QPCR not to be an artifact of a deletion. The presence of electrophysiologic dysfunction is not uncommon in our cohort of patients with STGD. Thus, the ERG provides clinically important information of retinal function for STGD/FF and, as such, is still indicated as part of the evaluation of these patients.

ATP-Binding Cassette Transporters↗
PubMed2006

Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction.

PURPOSE: To determine (1) clinical features that distinguish maculopathy due to the R345W substitution in fibulin-3 from other forms of inherited or early-onset drusen, (2) the phenotypic variability, and (3) the extent of retinal disease in those with a positive molecular diagnosis. METHODS: Affected individuals underwent ophthalmic examination, digital color fundus photography, fundus autofluorescence (AF) imaging, and psychophysical testing with automated photopic and dark-adapted perimetry and fine matrix mapping. Blood samples were taken for DNA extraction and screening for the R345W mutation in fibulin-3. Patients were subsequently divided into mutation-positive and -negative groups, to compare the identified phenotypic findings in these two sets of subjects. RESULTS: Twenty-nine subjects from 19 families were ascertained with inherited or early-onset drusen. Twenty-four (83%) subjects from 15 families were found to harbor the R345W fibulin-3 mutation. Peripapillary deposition and a radial distribution of macular drusen were consistent, distinguishing signs in the mutation-positive group. Subretinal neovascular membrane (SRNVM) was a rare occurrence, affecting only 1 of 48 eyes, whereas hyperpigmentation and atrophy of the retinal pigment epithelium (RPE) were common in older mutation-positive patients. Increased AF corresponding to the drusen was detected in both the mutation-positive and -negative groups. The phenotype in the group of patients positive for the R345W mutation was extremely variable, with evidence of interocular, intrafamilial, and interfamilial variability in visual loss, natural history, ophthalmoscopic findings, autofluorescence imaging, and psychophysical data. The novel finding of nonpenetrance was observed in a 62-year-old asymptomatic, mutation-positive man. The findings from detailed perimetry performed on a subset of subjects were consistent with the presence of widespread retinal dysfunction not isolated to the macula. CONCLUSIONS: Marked inter- and intrafamilial variation associated with the fibulin-3 R345W mutation in terms of retinal appearance, severity, progression, and nonpenetrance were identified. It was noted that SRNVM is a rare occurrence in R345W fibulin-3 maculopathy. These findings are helpful for advice regarding prognosis and for genetic counseling. The findings established that the presence of peripapillary deposit is highly likely to indicate that a patient carries the R345W mutation.

Adult↗
PubMed1984

Right hemifield alexia without hemianopia.

We studied a 54-year-old man who suffered a stroke in the visual-association areas of the left hemisphere. He showed no right-sided visual field defect and results of a neuropsychologic examination were normal except for his performance in several tasks presented to the right visual field. Naming of drawings was normal in both hemifields but reading of letters, words, digits, and arithmetic symbols was defective in the right field. We believe that the lesion in the visual association areas of the left hemisphere that did not interrupt interhemispheric connections disconnected the primary visual areas from temporoparietal areas of the left hemisphere, affecting reading.

Cerebrovascular Disorders↗
PubMed1987

Visual loss in pseudotumor cerebri. Incidence and defects related to visual field strategy.

Visual field examinations were performed serially on 20 patients with pseudotumor cerebri using a modified Armaly-Drance visual field strategy with a Goldmann perimeter as well as an automated perimeter (Octopus). Visual loss was found in 75% of eyes using the manual strategy and in 77.5% of eyes with automated threshold perimetry. This incidence of visual loss is 50% greater than any previously reported series. All major defects detected were present with both types of perimetry. Both strategies were more sensitive for documenting visual loss than previously described strategies. Since therapy for pseudotumor cerebri is determined by the degree and progression of visual loss, a specific sensitive strategy, rather than routine screening perimetry, should be used for determination of visual loss.

Adult↗
PubMed1998

Objective assessment of photoreceptor displacement and metamorphopsia: a study of macular holes.

BACKGROUND: We have developed a binocular perimetry technique for the quantitative assessment of retinal photoreceptor displacement and metamorphopsia. OBJECTIVE: To study the direction and amplitude of retinal photoreceptor displacement in eyes with idiopathic macular holes using our binocular perimetry technique. SUBJECTS: Five healthy control subjects and 10 patients with unilateral stage 3 to 4 macular holes in one eye and a healthy fellow eye. METHOD: Kinetic perimetry using red and green filter glasses, black binocular fixation targets, red and green selective monocular stimuli (Goldmann III-4-e), and fundus image superimposition of perimetry data. RESULTS: We found no discrepancy between the 2 visual fields in any healthy subjects. In patients with a unilateral macular hole, the central scotoma invariably extended beyond the rim of the hole. In 8 patients, each point on the rim of the scotoma had a perceptually corresponding location in the visual field of the fellow eye that was closer to the center of the visual field. In the 2 patients with the longest duration of symptoms (>2 years), no such discrepancy was found. CONCLUSIONS: Differential perimetry enables the objective study of retinal photoreceptor displacement and metamorphopsia. We found objective evidence for radial centrifugal photoreceptor displacement in most patients with idiopathic macular holes.

Aged↗
PubMed1998

Genetic risk of primary open-angle glaucoma. Population-based familial aggregation study.

OBJECTIVES: To study familial aggregation of primary open-angle glaucoma in a general population and to determine the absolute and relative risks for first-degree relatives. METHODS: First-degree relatives of patients with glaucoma (n = 48) and control subjects (n = 155) from the population-based Rotterdam Study underwent a standardized examination, including perimetry. MAIN OUTCOME MEASURES: Intraocular pressure, vertical cup-disc ratio; and the presence of glaucoma, defined as a visual field defect with a cup-disc ratio of 0.7 or higher or asymmetry of 0.3 or higher between both eyes. RESULTS: The prevalence of glaucoma was 10.4% in siblings of patients, 1.1% in offspring of patients, 0.7% in siblings of controls, and 0% in offspring of controls. Life-time risk of elevated intraocular pressure in relatives of patients vs relatives of controls was 42.5% vs 6.7%, of enlarged cup-disc ratio was 62.2% vs 16.6%, and of glaucoma was 22.0% vs 2.3%, yielding a risk ratio for glaucoma of 9.2 (95% confidence interval = 1.2-73.9). The population-attributable risk of glaucoma was 16.4%. CONCLUSIONS: In a general population, relatives of patients with glaucoma have a strongly increased risk of glaucoma. Enlarged cup-disc ratio, not intraocular pressure, was the earliest and most prominent feature of familial aggregation. Further studies are needed to disentangle the genetic components of the increased familial risk.

Adult↗