Daniel K. Roberts

Retrospective longitudinal study of visual acuity change in patients with retinitis pigmentosa.

Purpose To determine the extent that clinically evident macular lesions in patients with retinitis pigmentosa (RP) help to establish their prognosis for visual acuity (VA) retention. Methods The records of 182 patients with RP were reviewed. The macular lesion status at the initial examination was determined to be no lesion, a bull’s-eye atrophic lesion, or a geographic atrophic lesion. Multiple linear regression analysis was used to evaluate the relationship of initial VA, macular lesion type, and RP genetic subtype to predict the VA change per 5-year period. Results The regression effect of lesion type on the VA change was statistically significant (P < 0.0001). Patients with no macular lesion had a predicted 5-year change of less than 1 line, whereas those with either a bull’s-eye or geographic atrophic lesion had a predicted 5-year change of three to four lines. The 5-year changes were not related to a patient’s age or level of VA at initial presentation, when controlling for type of macular lesion. Conclusion By examining longitudinal data, the authors found that the presence or absence of a macular lesion at the patient’s initial visit was an important determinant of VA loss in this cohort of patients with RP. These findings are of value when counseling patients with RP regarding their prognosis for preservation of VA.

Iris transillumination defects in the pigment dispersion syndrome as detected with infrared videography : A comparision between a group of blacks and a group of nonblacks

BACKGROUND Infrared image analysis has been reported to be the most sensitive method to detect iris transillumination defects (ITDs) associated with the pigment dispersion syndrome (PDS). Although a common sign of PDS in patients with lighter irides, ITDs that are demonstrated with standard slit lamp examination are frequently absent in blacks with the disease. This absence may lead to confusion in diagnosis; therefore improved methods of evaluation could be beneficial. Although infrared image analysis has been investigated in nonblacks, it has not been applied to a group of blacks with the condition. METHODS Six blacks (11 eyes, all irides brown) with PDS and eight nonblacks (15 eyes, 10 blue irides, 5 brown irides) with PDS underwent analysis. ITDs were searched for with traditional slit lamp examination and with infrared videography. RESULTS Among the blacks, 2 of 11 eyes (18%) showed ITDs via infrared analysis, a frequency that was significantly lower (p < 0.001) than the frequency exhibited among the nonblacks (100%) when examined with the same technique. Standard slit lamp examination also showed a significantly lower frequency of ITDs among the blacks compared to the nonblacks (p < 0.001). Infrared videography detected ITDs at least one grade higher in 1 of 11 eyes (9%) among the black group and in 7 of the 15 eyes (47%) among the nonblacks. Using the Wilcoxon signed ranks test, the difference in the ability of infrared videography to detect and rank the iris defects in the nonblack PDS group was significantly greater when compared to standard slit lamp examination (p = 0.011), but infrared analysis did not increase detection or change the mean ranking of those in the black group (p = 0.317). CONCLUSION In this group of patients, infrared videography did not significantly improve the detection and visibility of ITDs in blacks, as it did in the nonblacks. The frequency that ITDs were detected with standard slit lamp examination and with infrared videography was significantly greater in the group of nonblacks compared to the blacks who exhibited PDS.

Prevalence of pigmented lens striae in a black population: A potential indicator of age-related pigment dispersal in the anterior segment

Purpose. To determine the prevalence of pigmented striae of the anterior lens capsule, with or without associated glaucoma, in a black primary eye care population. Methods. Over a 16-month period, five practitioners searched for pigmented lens striae (PLS) among consecutive patients who underwent pupillary dilation during routine eye care provided within the primary care service of an urban eye clinic in Chicago, Illinois. Results. Meeting the inclusion criteria were 1608 blacks (mean age ± SD, 40.9 ± 23.7 years; range, 5 to 100; 1056 females, 552 males). Among the group, 29 (1.8%) subjects had PLS (mean age, 66.5 ± 11.3 years; range, 33 to 88; 25 females, 4 males). PLS were bilateral 89% of the time. Sixteen of the 29 (55%) blacks had central corneal endothelial pigment dusting (14 bilateral), frequently creating a well-formed Krukenberg’s spindle. Trabecular pigmentation varied among the PLS subjects from mild to heavy. Using multiple logistic regression, age (in years) (odds ratio, 1.05; 95% confidence interval, 1.02 to 1.07; p = 0.0003), female gender (odds ratio, 4.46; 95% confidence interval; 1.03 to 19.19; p = 0.045), and hyperopic refractive error (in diopters) (odds ratio, 1.35; 95% confidence interval; 1.09 to 1.67; p = 0.006) were significant predictors of PLS. Conclusions. PLS were present in about 1.8% (2.4% females, 0.7% males) of our black population, and they were frequently associated with other signs of intraocular pigment dispersion. Age, female gender, and refractive error were significant predictors for PLS. This is new information that is helpful for understanding a clinical sign that may be an indicator of age-related pigment dispersal within the anterior segment.

The inheritance of the pigment dispersion syndrome in blacks.

PURPOSE Evidence has indicated that pigment dispersion syndrome (PDS) is inherited as an autosomal dominant disorder in white patients, often with a high degree of penetrance. Because heredity patterns in blacks are unknown, an investigation was carried out to study inheritance of PDS in this population. METHODS Six unrelated black adults (5 women, 1 man, age range 43-60 years) with PDS were identified from a primary eye care population at an inner city teaching clinic in Chicago, Illinois. Nineteen first-degree relatives (all siblings or children; age range 18-52 years) of these patients subsequently underwent thorough eye examination to look for signs of PDS. RESULTS Among the relatives, two (12%) showed evidence of the condition (these two patients belonged to different families): one was a 42-year-old daughter of a 60-year-old proband, and the other was the 49-year-old sister of a 47-year-old proband. Both exhibited definite signs of PDS in one eye only. CONCLUSION Evidence of expression of PDS among family members of black probands with PDS is provided. Incomplete penetrance of PDS among the black pedigrees may be suggested by these data.

Clinical signs of the pigment dispersion syndrome in blacks

Background The pigment dispersion syndrome (PDS) is considered rare in blacks, and minimal literature exists concerning the condition in this patient population. The diagnosis of PDS in blacks may present unique challenges because some of the typical clinical signs that are present in whites, including iris transillumination defects, posterior iris bowing, and noticeable anterior iris stromal pigment dusting, may not occur as commonly. Diagnosis can be particularly difficult when neither these signs nor significant corneal endothelial pigmentation exists. Although zonular and peripheral lens pigment has been found to be consistently present in whites with PDS, attention has not been given to this as a potentially important diagnostic sign in blacks. Methods From among a primary care population, we identified and studied 7 patients (13 eyes) who exhibited moderate to heavy trabecular meshwork (TM) pigmentation, as well as zonule and/or peripheral lens pigmentation. Patients were identified during routine clinical care provided by one of the authors, as well as from notification by other practitioners. All patients received complete eye examination and other signs of PDS were looked for. Results Four males and 3 females were identified, their average age being 37 years (range = 15 to 51) at the time of their initial identification. All but one patient was myopic (average ≈ −2.50 D spherical equivalent). Iris transillumination defects were present in only one eye of one patient, and no eyes showed overt posterior iris bowing, although the iris contours were usually flat and the anterior chambers appeared relatively deep. Corneal endothelial pigmentation was frequently barely detectable and could not be relied on as a predictor of trabecular meshwork or lenticular pigmentation. Glaucoma, or a suspicion of glaucoma due to increased intraocular pressure (IOP) or cupping, was common among the group. Using heavy TM pigmentation as well as any degree of zonular and/or peripheral lenticular pigmentation as a criteria for the diagnosis of PDS, we calculated the prevalence of PDS among blacks in a nonreferred primary care population (> age 7) to be at least 15 cases per 10,000. Conclusions More investigation is needed to study the clinical presentation of PDS in blacks because it may be substantially different than in whites. Zonular and peripheral lenticular pigmentation may be a particularly useful diagnostic sign of PDS in blacks, especially in those cases where other traditional signs, including iris transillumination defects, pronounced corneal endothelial pigmentation, posterior iris bowing, and visible anterior iris stromal pigment dusting, are absent. The “classic” variety of PDS may be more common among blacks than previously recognized.

A cross-sectional study of Krukenberg spindles and pigmented lens striae in a predominately black population: two highly associated clinical signs of anterior segment pigment dispersal.

Purpose:To investigate the relationship of Krukenberg spindles (KS) and pigmented lens striae (PLS), clinical signs related to iris pigment dispersal and possibly glaucoma. Methods:During a 31-month period, 5 practitioners in an urban, primary eye care setting examined consecutive patients for KS and PLS. Multiple logistic regression was used to evaluate relationships among KS, PLS, and other variables. Results:Krukenberg spindles were present in 65 patients (52 females), comprised of 57 of 2647 (2.2%) blacks, 5 of 303 (1.7%) whites, 2 of 121 (1.7%) Hispanics, and 1 of 55 (1.8%) Asians. PLS were present in 64 subjects (56 females), comprised of 59 (2.2%) blacks, 3 (1.0%) whites, and 2 (3.6%) Asians. KS and PLS were coexistent in 27 subjects. Mean age ± SD (range) of the KS and PLS subjects was 63.1 ± 15.0 years (24-88 years) and 67.0 ± 10.4 years (33-88 years), respectively. Mean refractive error ± SD (range) of KS and PLS right eyes was +0.55 ± 2.32D (−6.50 to +5.50D) and +1.34 ± 2.18D (−6.50 to +7.25D), respectively. Controlling for other variables, PLS were highly predictive (OR = 30.2, P < 0.0001) of KS, and KS were highly predictive (OR = 29.5, P < 0.0001) of PLS. Ignoring presence or absence of PLS, increasing age (in decades) (OR = 1.60, P < 0.0001) was strongly associated with KS. Ignoring presence or absence of KS, age (OR = 1.74, P < 0.0001), female gender (OR = 2.96, P = 0.009), and increasing hyperopic refractive error (OR = 1.30, P < 0.0001) were strongly associated with PLS. Conclusions:Krukenberg spindles and PLS were strongly associated in our patient population, and the likelihood of both increased with increasing age. Female gender and increasing hyperopic refractive error were highly significant predictors of PLS.

Pigmentation of the posterior lens capsule central to Wieger's ligament and the Scheie line: A possible indication of the pigment dispersion syndrome

Observation of pigment deposition on the posterior lens central to Wiegers ligament and the position of the so-called Scheie line is reported as a clinical sign of the pigment dispersion syndrome (PDS). Although abnormal pigmentation of the posterior lens surface is well-known to occur as scattered deposition among the zonule insertions as well as in the shape of a line formed within the crevice just anterior to the junction between the posterior capsule and the anterior hyaloid face, pigmentation has not been well-known to occur more centrally, nearer the polar capsular region. Pigment in this location is a relatively unknown finding in PDS and may lead to suspicion and diagnosis of this disorder.

Digital Infrared Photography Assists in the Detection of Iris and Ciliary Body Cysts

PurposeTo report a case that illustrates the utility of digital infrared photography in the detection of iris and ciliary body cysts in an asymptomatic patient. Materials and MethodsDigital infrared photography of the iris was performed in both eyes of a 50-year-old white woman who presented with bilateral endothelial pigment dusting and subtle iris transillumination defects. ResultsInfrared photography revealed a pronounced, rounded patch of transillumination in the periphery of the left iris. Also observed were focal, rounded regions of reduced transmittance in the peripheral iris of both eyes. These findings suggested the presence of bilateral iris and ciliary body cysts. High-resolution ultrasound biomicroscopic images were consistent with this suspicion. ConclusionsDigital infrared photography of the iris may be useful in the detection and evaluation of iris and ciliary body cysts.

Investigating ocular dimensions in African Americans with long anterior zonules.

Purpose:To investigate ocular dimensions in African Americans with the long anterior zonule (LAZ) trait. Methods:A total of 61 African American LAZ subjects and 61 age-matched, race-matched, and sex-matched controls were compared with respect to central corneal thickness, central corneal curvature, axial length (AL), and subjective refraction. Results:LAZ right eyes had a mean SR=+1.75±1.82 D and were 1.58 D (95% confidence interval, 0.83-2.31 D, P<0.0001) more hyperopic on average when compared with the control right eyes. LAZ right eyes also had an AL that was 0.69 mm (95% confidence interval, 0.34-1.04 mm, P<0.001) shorter on average than control right eyes. Similar results were found for left eyes. No differences were found with respect to central corneal curvature and central corneal thickness (P>0.05). Conclusions:In this data set, LAZ eyes tended to be more hyperopic and had ALs that were shorter than control eyes, characteristics that are consistent with elevated risk for angle-closure glaucoma.

Possible association between long anterior lens zonules and plateau iris configuration.

PurposeTo report plateau iris configuration (PIC) in subjects who have the long anterior zonule (LAZ) clinical trait. MethodsTwo elderly African American males who exhibited LAZ and had partial appositional angle closure persisting after laser iridotomy were imaged with high-resolution ultrasonography to examine for PIC. A third elderly LAZ subject who had narrow angles without closure was also imaged for PIC. Each subject was tested for a serine 163 arginine mutation (S163R) C1q tumor necrosis factor-related protein 5 gene (C1QTNF5/CTRP5) mutation, which may be associated with the LAZ phenotype. ResultsAll 3 LAZ subjects also had PIC, an unlikely association due to chance alone. None carried the S163R CTRP5 mutation. ConclusionsLAZ and PIC may have association and require study because LAZ might be a useful indicator for an increased likelihood of PIC and risk of angle closure. Mutation other than CTRP5 S163R should also be considered for the LAZ trait, which could be an important phenotypic marker in genetic studies.