Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia.

BACKGROUND/AIMS: Few studies have reported on the change in visual acuity (VA) in patients with choroideraemia. In order to determine the degree and rate of VA impairment associated with this disease, the central VA was analysed in a large group of patients with choroideraemia. METHODS: The authors completed a retrospective, cross sectional review of 115 patients with choroideraemia from three tertiary care centres. A longitudinal analysis was performed on 45 of these patients who met the inclusion criteria of at least three visits over a minimum period of 4.5 years. Multiple linear regression analysis was used to explore the 5 year rate of VA change while controlling for initial VA and initial age. Multiple logistic regression was also used to investigate VA impairment. RESULTS: In the cross sectional group (n = 115), 84% (87/103) of patients under the age of 60 had a VA of 20/40 or better while 33% (4/12) of patients 60 years of age or older had a VA of 20/200 or worse at their most recent visit. The majority of the patients (93%) in the longitudinal subgroup of 45 patients had a VA of 20/30 or better at their initial visit. The mean 5 year rate of VA change was 0.09 logMAR equivalent (approximately one line on the Lighthouse chart). CONCLUSION: In this cohort of patients with choroideraemia, there was typically a slow rate of VA loss and the prognosis for central VA retention was, as a group, favourable until the seventh decade.

Anterior chamber angle anomalies associated with signs of pigment dispersion in a group of black probands and their first-degree relatives.

PURPOSE: To evaluate the presence of iridocorneal angle anomalies associated with signs of pigment dispersion among a group of black probands and their first-degree relatives. METHODS: Eleven blacks who exhibited pigment dispersion syndrome (PDS) signs, including Krukenberg's spindles, moderate-to-heavy trabecular meshwork pigmentation, and peripheral lenticular/zonular pigmentation, received a complete eye examination that included gonioscopy. Overt iridocorneal angle abnormalities other than pigment deposition were photo-documented. Twenty-two first-degree relatives (6 siblings, 15 children, and 1 parent) of these probands underwent similar examination. RESULTS: Among the subjects, 5 of 11 probands (age range 13 to 59 years) and 4 of 22 relatives (age range 14 to 51 years) exhibited definite angle anomalies. The nine subjects with angle anomalies belonged to 7 of 11 separate families. The four relatives with angle anomalies did not have PDS according to our criteria, but two other relatives from two additional families did have signs consistent with clinical PDS. Types of angle anomalies included (1) peripheral anterior synechia-like lesions; (2) a prominent concavity of the peripheral iris at the 6-o'clock meridian; (3) a whitish, thread-like band of tissue near the iris base; (4) a prominent, externally-visible Schwalbe's line at the 6-o'clock meridian; and (5) a prominent, web-like confluence of exaggerated iris processes 360 degrees along the angle wall. Iris processes and prominent Schwalbe's lines were not considered abnormal or anomalous unless they were clearly atypical. CONCLUSIONS: Iridocorneal angle anomalies, other than pigment deposition, were common among our black group who exhibited signs of pigment dispersion as well as among their first-degree relatives. Further consideration should be given to the possibility that among some patient groups, overt goniodysgenesis could be part of a constellation of signs indicative of a pigment dispersion syndrome. Potentially, clinically detectable goniodysgenesis could prove to be a useful marker to identify certain subjects who carry PDS genetic traits but who have not expressed complete phenotypical disease.

Pigmented striae of the anterior lens capsule and age-associated pigment dispersion of variable degree in a group of older African-Americans: an age, race, and gender matched study.

PURPOSE: To investigate pigmented striae of the anterior lens capsule in African-Americans, a potential indicator of significant anterior segment pigment dispersion. METHODS: A group of 40 African-American subjects who exhibited pigmented lens striae (PLS) were identified from a non-referred, primary eye care population in Chicago, IL, USA. These subjects were then compared to an age, race, and gender matched control group relative to refractive error and the presence or absence of diabetes and hypertension. RESULTS: The PLS subjects (mean age = 65.4 +/- 8.8 years, range = 50-87 years) consisted of 36 females and 4 males. PLS were bilateral in 36 (85%) of the 40 subjects. Among the eyes with PLS, 21 (55%) of 38 right eyes and 22 (61%) of 36 left eyes also had significant corneal endothelial pigment dusting, commonly in the shape of a Krukenberg's spindle. Ten (25%) of the PLS subjects had either glaucoma or ocular hypertension (7 bilateral, 3 unilateral). The presence of trabecular meshwork pigment varied from minimal to heavy. The mean +/- SD (range) refractive error of the PLS right eyes was +1.61 +/- 1.43D (-1.50 to +5.00D) and +1.77 +/- 1.37D (-1.00 to +5.00D) for the left eyes. Based on these data, the PLS right eyes were +1.63D (Student's t, p = 0.0001; 95% CI = +0.82 to +2.44D) more hyperopic on average than the control right eyes, and the PLS left eyes were +1.77D (p = 0.0001; 95% CI = +0.92 to +2.63D) more hyperopic on average than the control left eyes. Trend analysis showed a gradually increasing likelihood of PLS with increasing magnitude of hyperopia in both eyes (Mantel-Haenszel chi-square, p = 0.001). Among PLS subjects, 24 (60%) of 40 were hypertensive and 9 (23%) of 40 were diabetic. However, these proportions were not significantly different (two-tailed Fisher's exact test; hypertension: p = 0.30; diabetes: p = 0.70) from the randomly selected controls. CONCLUSIONS: Among our African-American group, which consisted predominately of females >50 years of age, the likelihood of PLS increased with increasing hyperopic refractive error. This finding is consistent with the possibility that PLS may, in some circumstances, indicate a significant pigment dispersal process due to iris-lens rubbing that may be associated with crowding of anterior segment structures. Additional study is warranted to further assess the nature of PLS, their precise relationship with an age-related pigment dispersal process, and their true significance as a risk factor for development of glaucoma.

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.

Heritage characteristics reported by a group of African-Americans who exhibit the pigment dispersion syndrome: a case-control study.

PURPOSE: To investigate the racial heritage of a group of African-Americans who exhibit the pigment dispersion syndrome (PDS). SUBJECTS AND METHODS: Ten unrelated African-American PDS patients (age range 13-59) from a primary eye care population in Chicago, Illinois, USA, were interviewed to determine their racial heritage. Since Caucasian and Native American heritage were commonly reported, 101 unaffected African-American control subjects (age range 18-55) were also interviewed to determine the reported frequency of these specific racial heritage characteristics. RESULTS: Some degree of Caucasian heritage was reported by 100% of the PDS subjects and by 46.5% of controls. Native American heritage was reported by 90% of the PDS subjects and by 71.3% of controls. Based on these data, the PDS subjects were significantly more likely to report Caucasian heritage (Fisher's exact test, P=0.001) but they were not significantly more likely to report Native American heritage (P=0.282). In addition, the PDS subjects were significantly more likely to report Caucasian heritage from both parents (P=0.024) and more likely to report a combination of both Caucasian and Native American heritage (P=0.0006) than corresponding controls. In general, the PDS subjects had 'light' or 'medium' complexions. CONCLUSION: Results from this analysis are consistent with the hypothesis that non-African heritage, particularly Caucasian, is likely to be prevalent in the background of African-Americans who exhibit PDS. It is suggested that non-African heritage may not only be important for the transference of PDS causing genes, but it may also influence factors such as degree of iris pigmentation and rigidity which could influence iris contour and the subsequent expression of PDS in those who are genetically predisposed. Further investigation is needed to study the factors that influence the expression and severity of PDS among African-Americans, a population which traditionally has been considered to be rarely affected by this condition.

Screening for stimulant use in adult emergency department seizure patients.

OBJECTIVE: The objective of this study was to determine the prevalence of positive plasma drug screening for cocaine or amphetamine in adult emergency department seizure patients. METHODS: This prospective study evaluated consecutive eligible seizure patients who had a plasma sample collected as part of their clinical evaluation. Plasma was tested for amphetamine and the cocaine metabolite benzoylecgonine using enzyme-mediated immunoassay methodology. Plasma samples with benzoylecgonine greater than 150 ng/mL or an amphetamine greater than 500 ng/mL were defined as positive. Patient demographics, history of underlying drug or alcohol-related seizure disorder, estimated time from seizure to sample collection, history or suspicion of cocaine or amphetamine abuse, results of clinical urine testing for drugs of abuse, and assay results were recorded without patient identifiers. RESULTS: Fourteen of 248 (5.6%, 95% CI 2.7%-8.5%) plasma samples were positive by immunoassay testing for benzoylecgonine and no samples (0%, 95% CI 0-1.2%) were positive for amphetamine. Positive test results were more common in patient visits where there was a history or suspicion of cocaine or amphetamine abuse (p < 0.0005). CONCLUSIONS: During this study period, routine plasma screening for cocaine and amphetamines in adult seizure patients had a low yield. As a result, routine plasma screening would yield few cases of stimulant drug in which there was neither a history nor suspicion of drug abuse in this population.

Iris transillumination defects in the pigment dispersion syndrome as detected with infrared videography: a comparison 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.

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.

Ultrastructural interactions in the microvasculature of human endometrial adenocarcinoma.

OBJECTIVES: Our purpose was to study the ultrastructural morphology of the microvasculature of human endometrial adenocarcinoma and to determine the effect of this malignancy on cell-to-cell communication between the components of the microvasculature and with the other tissue compartments of human endometrium. Methods. Multiple cases of human endometrial adenocarcinoma were studied and graded by light microscopy. Six cases of Grade I and six cases of Grade II were selected. Two blocks per case were studied ultrastructurally. RESULTS: In contrast to our expectation that the ultrastructure of tumor vessels would suggest a great deal of proliferation and new vessel formation, we found that tumor vessels displayed a high degree of cellular differentiation, in the form of numerous and varied cell-to-cell contacts, and large amounts of protein production. CONCLUSIONS: The morphology of the microvasculature of endometrial adenocarcinoma suggests an active rather than passive role in tumor vessels.

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 approximately -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.

Ultrastructure of the microvasculature in human endometrial hyperplasia.

OBJECTIVE: Our purpose was to determine the effect of hyperplasia on cell-to-cell communication in the microvasculature of the human endometrium. STUDY DESIGN: Ten biopsy specimens of simple and complex hyperplasia of the human endometrium were investigated by electron microscopy. RESULTS: The microvasculature of the hyperplastic endometrium shows morphologic disorder. The extracellular matrix is altered, and cell death is widespread. Intercellular contact is infrequent or absent. CONCLUSIONS: These results are in marked contrast to the ultrastructure of the normal microvasculature. The complex cell-to-cell interaction observed in normal tissue appears lost. This report, combined with others, indicates that cell-to-cell contact is sparse in hyperplastic endometrium.

The nuclear channel system in endometrial adenocarcinoma exposed to medroxyprogesterone acetate.

The nuclear channel system (NCS), giant mitochondria and subnuclear glycogen form a triad of ultrastructural features observed in normal human endometrial epithelium in response to progestational steroids. Both the giant mitochondria and subnuclear glycogen have been described in endometrial adenocarcinoma, but the NCS has not. This article reports the development of the NCS in adenocarcinoma treated with medroxyprogesterone acetate. Previous studies suggest that the NCS in normal tissue is a response to the acyl group in the 17-beta position of the D-ring of some progestational steroids, such as medroxyprogesterone acetate. Medroxyprogesterone acetate was administered to 12 postmenopausal women with endometrial adenocarcinoma. Hysterectomies were performed 8 to 20 days after treatment. Pretreatment specimens were also obtained on 8 of the 12 patients. Using standard electron microscopy procedures, light microscopy on plastic semithin sections was first used to confirm the presence of tumor. Thin sections of malignant endometrium were prepared and evaluated ultrastructurally for progestational alterations. Abnormal giant mitochondria and subnuclear glycogen were found both before and after treatment. The third element of the triad, the NCS, was not observed in any of the available pretreatment biopsies, but was seen in three of the treated specimens. Thus it appears that the NCS is a response to the given progesterone therapy.

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 Wieger's 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.

Validation of a rapid urine screening assay for cocaine use among pregnant emergency patients.

OBJECTIVES: To determine the accuracy of the OnTrak rapid urine latex agglutination immunoassay (AIA) for testing pregnant ED patients for the cocaine metabolite benzoylecgonine (BE), and to determine the frequency of urine BE in pregnant ED patients and the association of test results with patient demographics. METHODS: A test performance evaluation was conducted using an inception cohort of pregnant patients at an urban teaching hospital ED. Patients with positive urine chorionic gonadotropin tests who had adequate remaining urine samples were studied. Patient demographics, ED diagnoses, and assay results were recorded without patient identifiers. Urine was tested using the rapid AIA. The first 150 samples were confirmed using a second immunoassay and gas chromatography with a nitrogen phosphorus detector. All positive samples also were confirmed with thin-layer chromatography, and quantification by gas chromatography-mass spectrometry. RESULTS: Twenty of 342 (5.9%, 95% CI 3.4-8.4%) pregnant patients had urine samples positive by AIA testing for BE. Confirmation testing demonstrated no false-positive or -negative AIA result. Positive test results were not associated with specific patient diagnoses or demographics. CONCLUSIONS: ED screening for cocaine use among pregnant patients can be accurately performed using the OnTrak AIA for BE. In the ED population screened, 5.9% of the pregnant women had urine samples positive for BE.

Coronary artery morphologic features after coronary rotational atherectomy: insights into mechanisms of lumen enlargement and embolization.

The coronary arteries and myocardium from two patients who died after coronary rotational atherectomy were analyzed to gain insights into the mechanisms of lumen enlargement and to document embolization of calcified plaque. Rotational atherectomy resulted in sharp cuts in plaque, producing a relatively smooth luminal surface. When extensive nodular calcific atherosclerosis was present, the luminal surface was focally uneven with exposure of jagged calcified plaque to blood flow. Deep plaque fissures and medial dissections were also seen. These fissures may have been created by the rotoblator or by adjunctive balloon angioplasty. Multiple calcific atheroemboli were present after rotoblator use in plaques containing extensive nodular calcification; in moderately calcified plaque only one small atheroembolus was found. Thus embolization of calcified plaque can occur after rotational atherectomy and may correlate with the severity of plaque calcification. Rotational atherectomy produces a focally smooth, sharp-edged, luminal surface, a lumen enlargement mechanism different from balloon angioplasty.

Ultrastructural cell-to-cell interactions in hyperplastic endometrial stroma.

In hyperplastic endometrial stroma, cell-to-cell contacts are infrequent. Those that are present are not well developed and may appear degenerative. Significant amounts of extracellular matrix further impede contact. The cells of hyperplastic endometrial stromal are, for the most part, poorly differentiated and both apoptosis and necrosis are common. Fibroblast-like cells make up most of the increased cellularity, with few endometrial granulocytes or other cells types.

Stromal-epithelial communications in hyperplastic human endometrium.

OBJECTIVE: Our objective was to assess the cell-to-cell contacts in hyperplastic human endometrium and to compare them with contacts in normal endometrium. STUDY DESIGN: Hyperplastic endometrial samples (five with simple hyperplasia and five with complex hyperplasia) without atypia by light microscopy were studied with transmission electron microscopy. The cell-to-cell contacts, basal lamina, and epithelial-to-stromal compartment contacts were studied and compared with these same areas in normal endometrium. RESULTS: Only infrequent gap junctions between epithelial cells were seen. Other epithelial contacts were also greatly reduced when compared with normal epithelium. Cell-to-cell contacts between the epithelial compartment and the stromal compartment were rare and degenerative in configuration. An increase in extracellular matrix and various alterations in the basal lamina appears to contribute to a decrease in cell-to-cell contacts. CONCLUSIONS: Compared with normal endometrium, hyperplastic endometrium demonstrated far fewer cell-to-cell contacts. The basal lamina and extracellular matrix were altered in such a fashion that communication between the stromal and epithelial compartments appeared to be impaired. Stromal and epithelial cells rarely were in contact. Those contacts present were less complex and the majority were degenerative. Hyperplasia without atypia demonstrated a much lower amount of intercellular communication than normal endometrium.

Current status of magnetic resonance in radiologic diagnosis of foot and ankle injuries.

Magnetic resonance imaging can provide unique advantages in evaluation of foot and ankle disorders. Among these advantages are lesion localization, sensitivity in differentiation, and evaluation of ligaments, tendons, and osseous abnormalities.