Combined granular-lattice corneal dystrophy (Avellino) in a patient with no known Italian ancestry.
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Aged↗
Biomedical subjects
R Folberg
Publications and source records attributed to R Folberg.
Shaken babies--some have no impact injuries.
One study has questioned the validity of shaking as a mechanism of head injury in children. A prospective, postmortem study investigated 80 deaths from head trauma to identify the roles of shaking and direct impacts. Evidence of shaking was defined as two or more of the following criteria: 1) finger marks and/or rib fractures, 2) subdural and/or subarachnoid hemorrhage, or 3) a history of vigorous shaking. Shaking to the exclusion of other head trauma was defined as the presence of two or more of the above criteria together with the complete absence of scalp or skull injuries. Nine (11.3%) of the 80 study deaths qualified as exclusively shaking injuries by this definition. Thirty (37.5%) of the deaths had direct injuries as well as two of the criteria of shaking; these deaths were classified as combined shaking and blunt trauma. Forty-one (51.3%) of the deaths had impact injuries without having two of the criteria of shaking. We reviewed the extent of ocular injuries in all the cases. We found ocular hemorrhages with increased frequency in cases with two or more of the criteria of shaking compared to cases with only impact mechanism of injury. Retinal hemorrhages continue to show themselves to be a good marker of infants injured by vigorous, intentional shaking. This study likewise confirms the observations of others that most, but not all, shaken babies have impact injuries as well.
Battered Child Syndrome↗
Aggressive nevus of the iris with secondary glaucoma in a child.
PURPOSE/METHODS: We studied a case of an aggressive iris nevus that caused secondary glaucoma in a child. RESULTS/CONCLUSION: Unlike most iris tumors, this tumor grew from the superior aspect of the iris. The nevus was also unusual because it invaded the trabecular meshwork and caused secondary glaucoma.
Adolescent↗
Technique for the digital imaging of histopathologic preparations of eyes for research and publication.
BACKGROUND: Although there are excellent techniques to photograph gross ocular pathology specimens, it is difficult to view or photograph the entire eye from a glass slide using equipment designed for photomicrography. This investigation was initiated to develop a technique to image the entire eye from a glass slide. METHODS: The glass histopathologic slide, placed in a carrier intended for 35-mm film transparencies, is inserted into a 35-mm slide scanner. The glass slide is scanned, creating a digital color image which may be converted to black and white with enhancement of certain histologic features. One may use a digital film recorder to produce 35-mm photographic transparencies or a dye sublimation printer to produce high-resolution color or black and white prints. RESULTS: More than 400 ocular whole-mount preparations have been digitized in the authors' laboratory to generate illustrations suitable for publication or for analysis in morphologic research. CONCLUSION: Digital techniques provide easier control over density and contrast than conventional photographic methods. Digitized images are well-suited for morphologic analyses in research. These techniques allow one to publish black and white photographs for books or journals while retaining the original color image for potential CD-ROM editions.
Eye↗
Relation between the microcirculation architecture and the aggressive behavior of ciliary body melanomas.
PURPOSE: To study the relation between vascular patterns and the biologically aggressive behavior of ciliary body melanomas. METHODS: The authors compared the frequency distribution of vascular patterns by location for 234 uveal melanomas (54 tumors involving the ciliary body, and 180 without ciliary body involvement). Stepwise Cox regressions (for the endpoint of time-to-death due to melanoma), performed separately for melanomas with and without ciliary body involvement, included the following variables: size, vascular patterns, cell type, mean of the largest nucleoli, mitoses, tumor infiltrating lymphocytes, age, and sex. A separate Cox regression procedure included the variable of tumor location. Kaplan-Meier survival curves were generated for time to melanoma death with ciliary body involvement and melanomas without ciliary body involvement for tumors containing or lacking vascular networks. RESULTS: These vascular patterns appear more often in the ciliary body than in the choroid: parallel vessels (P = 0.022), arcs (P = 0.003), and parallel with cross-linking, arcs with branching, and loops and networks (all P = 0.0001). Stepwise regression for tumors confined to the choroid indicated that the presence of networks was the most significant variable (P = 0.0001); stepwise regression for tumors with ciliary body involvement suggested that only one variable, networks, was significant (P = 0.0066). Kaplan-Meier survival estimates indicated that the survival of patients with tumors containing networks in the ciliary body was comparable to those containing networks in the choroid. CONCLUSION: Regardless of location, ciliary body or choroid, the presence of vascular networks shortens survival. The tumor location does not enter a stepwise Cox regression model when vascular patterns are included as variables. Therefore, the aggressive behavior of ciliary body melanomas appears to be related to the tendency for vascular networks to develop in this location.
Adolescent↗
Bilateral herpes simplex virus type 2 keratitis: a clinicopathologic report with immunohistochemical and ultrastructural observations.
This report describes the clinical, histopathologic, ultrastructural, and immunohistochemical findings in two corneal buttons from a 13-year-old girl who developed bilateral progressive corneal stromal opacification during childhood. As determined by light microscopy, both corneal buttons were edematous with a chronic inflammatory infiltrate confined to the deep layers of the stroma. We detected intranuclear eosinophilic inclusions in some epithelial cells. We detected herpesvirus particles in stromal keratocytes and endothelial cells by transmission electron microscopy. Immunohistochemistry studies identified concurrent expression of specific herpes simplex virus type 2 antigen in corneal epithelial cells, in keratocytes in the deep layers of the stroma, and in endothelial cells. The cause of progressive bilateral stromal corneal opacification in this child was herpes simplex virus type 2 keratitis. This condition should be considered in the differential diagnosis of progressive, bilateral corneal opacification in children.
Adolescent↗
Surgical management of melanocytoma of the ciliary body with extrascleral extension.
We treated four white women with extrascleral extension of suspected ciliary body melanomas with a modified block excision (three patients) or enucleation (one patient). Light and transmission electron microscopy established the diagnosis of ciliary body melanocytoma with extrascleral extension in each patient. Two eyes were irradiated before block excision. Block excision involved simultaneous removal of full-thickness cornea and sclera, iris, and ciliary body with tectonic corneoscleral grafting. The postoperative visual acuity of the three patients treated with a modified block excision was 20/25, 20/50, and 20/60, respectively. No patient experienced local tumor recurrence (30 to 60 months of follow-up). The two irradiated eyes eventually developed radiation-associated complications. After three years the other block excision patient had visual acuity of 20/25. Ciliary body melanocytoma should be included in the differential diagnosis of pigmented tumors of the anterior uvea with extrascleral extension. En bloc excision with simultaneous full-thickness corneoscleral resection is indicated in circumscribed ciliary body tumors, especially when extraocular extension is present.
Aged↗
Microscopically controlled excision of conjunctival squamous cell carcinoma.
Although surgical excision, with or without adjunctive cryotherapy, is an accepted method of managing conjunctival squamous cell carcinoma, histologically verified tumor-free surgical margins cannot be assured by excision alone. We used a tissue conservation method, an adaptation of the Mohs' micrographic technique for cutaneous tumors, to monitor the conjunctival tissue margins by histologic review at initial tumor excision. We treated 19 patients with squamous cell carcinoma of the conjunctiva by this technique. Lamellar sclerectomy was used if the deep tissue margin was positive for residual tumor cell after the first stage review. Adjunctive cryotherapy was utilized in one patient because the deep scleral margin remained positive after lamellar sclerectomy, and further excision was not possible. In all patients, the tumor-free conjunctival defect was allowed to heal by secondary intention. During six months to 60 months of follow-up, no recurrences were documented. The only complication encountered was conjunctival scarring with secondary restricted motility in one patient. We believe this method of tissue margin surveillance offers a high cure rate for the treatment of conjunctival squamous cell carcinoma.
Aged↗
The relationship between granular, lattice type 1, and Avellino corneal dystrophies. A histopathologic study.
Three stromal corneal dystrophies (granular, lattice type 1, and Avellino) were recently mapped to a single locus on chromosome 5. This study was conducted to determine if there is histologic evidence to support the allelic relationship suggested by the genetic studies. We examined 23 corneal buttons from the two families with lattice dystrophy and 13 corneal buttons from the two families with granular dystrophy who were involved in the chromosomal linkage studies. In the two families with clinically typical granular dystrophy, one corneal button also contained focal amyloid deposits. In both families with clinically typical lattice dystrophy type 1, we found evidence of granular deposits. The genetic linkage studies demonstrate only that the disease-causing mutations for these three stromal dystrophies share the same genetic locus. However, the evidence of histologic overlap strongly suggests that these dystrophies are caused by mutations within the same gene.
Alleles↗
The Americans with Disabilities Act. Emerging issues for ophthalmologists.
BACKGROUND: The Americans with Disabilities Act of 1990 is the most comprehensive federal law to address discrimination against an estimated 49 million Americans in the areas of employment, governmental services, public accommodations, transportation, and telecommunications. METHODS: The authors describe title I of the Americans with Disabilities Act and examine the challenges of implementing the employment provisions set forth in this legislation as they relate to visual impairment and disability. CONCLUSIONS: It is crucial that ophthalmologists understand the implications of the Americans with Disabilities Act when caring for individuals with visual impairments and communicating with their employers and other healthcare specialists. Ophthalmologists play an increasingly important role in shaping public policy toward people with visual impairments.
Activities of Daily Living↗
Mean of the ten largest nucleoli, microcirculation architecture, and prognosis of ciliochoroidal melanomas.
BACKGROUND: Cytomorphometric measurements and the architecture of the microcirculation in tissue sections of eyes removed for ciliary body or choroidal melanomas have been identified independently as prognostically significant factors for survival. The relative significance of these two histologic features is addressed in this study. METHODS: The same 234 cases used to assess the prognostic significance of the microcirculatory patterns of choroidal and ciliary body melanomas were examined by two independent observers who measured the largest diameter of melanoma cell nucleoli from digitized images at a high magnification (x 3000) using the laser scanning confocal microscope. The mean of the ten largest nucleoli was calculated for each tumor according to previously published methods. Intraobserver and interobserver reproducibility was assessed for these measurements. Several Cox multiple regression models were constructed which included this cytomorphometric variable with and without the inclusion of the microcirculatory patterns. RESULTS: There is a high degree of intraobserver reproducibility but only a weak degree of interobserver reproducibility in measuring the mean of the ten largest nucleoli. Using multiple Cox regression models, the mean of the ten largest nucleoli from each observer failed to exert any effect on outcome after enucleation, regardless of whether the presence of networks of closed vascular loops was considered in the statistical formulation. The presence of networks of closed vascular loops was found to be the most statistically dominant histologic prognostic characteristic. CONCLUSION: The authors have not been able to confirm the use of the mean of the ten largest nucleoli as a significant prognostic factor in the outcome of patients whose eyes have been removed for ciliary body or choroidal melanomas. Further investigation of this cytomorphometric technique by other laboratories is warranted.
Adult↗
Microcirculation architecture of melanocytic nevi and malignant melanomas of the ciliary body and choroid. A comparative histopathologic and ultrastructural study.
PURPOSE: This study was designed to (1) describe the vascular patterns of ciliary body and choroidal nevi by light microscopy, (2) compare the vascular ultrastructure of nevi with vessels of the normal uvea and uveal melanomas, and (3) compare the behavior of ciliochoroidal melanomas with and without a nevus-like vascular architecture. METHODS: After delineating the vascular patterns of 23 choroidal and ciliary body nevi by light microscopy, the authors identified 49 melanomas that had the same vascular patterns as nevi from a previously published series of 234 uveal melanomas. The survival of these 49 patients who had melanomas with a nevus-like vascular architecture was compared with the 185 patients who had melanomas that lacked this vascular profile. RESULTS: By light microscopy, the only vascular patterns identified in nevi are "normal" vessels, zones of avascularity ("silent" pattern), straight, and parallel vessels; closed vascular loops and networks were not detected in nevi. By transmission electron microscopy, the vascular basement membrane of malignant melanomas was multilaminar, fragmented, and significantly thicker than in normal eyes or nevi. None of the patients with nevi died of metastatic disease. Fourteen percent of patients whose melanomas had the same vascular profile as nevi died of metastatic disease, whereas 32% of patients whose melanomas had vascular patterns other than those seen in nevi died of metastatic melanoma (P = 0.012). CONCLUSIONS: The microcirculation architecture marks tumor progression in uveal melanocytic lesions by light and electron microscopy. In the spectrum of these lesions, nevi are benign, melanomas that have the same vascular profile as nevi have an intermediate biologic behavior, and melanomas with vascular networks are strongly associated with death due to metastatic disease.
Adolescent↗
Non-caseating conjunctival granulomas in patients with multifocal choroiditis and panuveitis.
PURPOSE: This study describes a group of patients with clinical findings of peripheral punched-out lesions and panuveitis who had non-caseating granulomas found by non-directed conjunctival biopsy. METHODS: A series of 10 patients seen at The University of Iowa Hospitals and Clinics between August 1989 and August 1990 with ocular findings similar to those of multifocal choroiditis with panuveitis, including peripheral punched-out chorioretinal lesions, vitritis, and frequently, cystoid macular edema, was examined. All patients underwent ophthalmic examination, ancillary testing, and non-directed conjunctival biopsy. RESULTS: Of the ten patients, nine were women. Results of FTA-ABS were negative for all patients. A non-directed conjunctival biopsy disclosed non-caseating granulomata in seven of the patients. Acid-fast bacilli were not detected in any specimens. Four of the seven patients with positive biopsy results had either elevated serum angiotensin-converting enzyme levels or chest x-rays consistent with sarcoid. Six of these seven patients were 58 years of age or older. CONCLUSION: It is recommended that non-directed conjunctival biopsy specimens be examined to exclude the presence of non-caseating granulomata in uveitis patients with small, inferior, peripheral, punched-out chorioretinal scars, especially in women older than 55 years of age.
Aged↗
Three autosomal dominant corneal dystrophies map to chromosome 5q.
The two most common autosomal dominant dystrophies of the corneal stroma are lattice corneal dystrophy type I and granular dystrophy. A third autosomal dominant stromal dystrophy (Avellino) has also been recognized. Chromosome linkage analysis of four families with Avellino dystrophy mapped the disease-causing gene to chromosome 5q. Subsequent linkage analysis of two families with typical lattice dystrophy and two with typical granular dystrophy also revealed significant linkage with the same markers. Thus, each of three clinically and histopathologically distinct phenotypes is independently linked to 5q. The maximum combined lod score using all 114 affected patients was 28.6 with marker D5S393. None of the 14 known human amyloid-associated genes map to chromosome 5.
Alleles↗
Three-dimensional relationships between tumor cells and microcirculation with double cyanine immunolabeling, laser scanning confocal microscopy, and computer-assisted reconstruction: an alternative to cast corrosion preparations.
The morphology of the microcirculation of uveal melanomas is a reliable market of tumor progression. Scanning electron microscopy of cast corrosion preparations can generate three-dimensional views of these vascular patterns, but this technique sacrifices the tumor parenchyma. Formalin-fixed wet tissue sections 100-150 microns thick from uveal melanomas were stained with the lectin Ulex europaeus agglutinin I (UEAI) and proliferating cell nuclear antigen (PCNA) to demonstrate simultaneously the tumor blood vessels and proliferating tumor cells. Indocarbocyanine (Cy3) was used as a fluorophore for UEAI and indodicarbocyanine (Cy5) was used for PCNA. Double labeled sections were examined with a laser scanning confocal microscope. Images of both stains were digitized at the same 5-microns intervals and each of the two images per interval was combined digitally to form one image. These combined images were visualized through voxel processing to study the relationship between melanoma cells expressing PCNA and various microcirculatory patterns. This technique produces images comparable to scanning electron microscopy of cast corrosion preparations while permitting simultaneous localization of melanoma cells expressing PCNA. The microcirculatory tree can be viewed from any perspective and the relationship between tumor cells and the tumor blood vessels can be studied concurrently in three dimensions. This technique is an alternative to cast corrosion preparations.
Antigens, Neoplasm↗
Ocular pathology of MELAS syndrome with mitochondrial DNA nucleotide 3243 point mutation.
PURPOSE: The authors describe the clinical, histopathologic, and ultrastructural findings in two eyes obtained at autopsy from a 21-year-old woman with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome). METHODS: The eyes were obtained immediately after death. The right eye was fixed in 10% neutral-buffered formalin and processed for standard histologic examination. The left eye was fixed in a neutral-buffered 2.5% glutaraldehyde solution and processed for transmission electron microscopic examination. The authors compared the histologic and ultrastructural findings with the clinical features recorded photographically. RESULTS: The main clinical ophthalmologic features were bilateral ptosis, chronic external ophthalmoplegia, diffuse choroidal atrophy, atypical pigmentary retinopathy with macular involvement, and patchy atrophy of the iris stroma. Molecular genetic analysis detected a tRNA Leu (UUR) point mutation at position 3243 of mitochondrial DNA (MELAS genotype). Results of histologic and ultrastructural examination showed ragged-red fibers in the rectus muscles, degeneration of photoreceptor outer segments in the macula, hyperpigmentation and atrophy of the retinal pigment epithelium of the macula, atrophy of the iris stroma, early posterior subcapsular cataract, and optic atrophy. The retinal pigment epithelium, inner segments of the photoreceptors, smooth muscle cells of the choroidal and retinal vessels, the dilator and sphincter muscle of the iris, cornea, lens epithelium, and ciliary epithelium all contained many, often enlarged, structurally abnormal mitochondria with occasional paracrystalline inclusions and circular cristae. CONCLUSIONS: The MELAS-associated mitochondrial DNA nucleotide 3243 point mutation can cause a spectrum of ocular signs and symptoms that may be dependent on the patient's age and the amount of mutant mitochondrial DNA in the tissue. MELAS syndrome should be considered in the differential diagnosis of bilateral ptosis, external ophthalmoplegia, and atypical pigmentary retinopathy with macular involvement.
Adult↗
Interactive videodisc and compact disc-interactive for ophthalmic basic science and continuing medical education.
BACKGROUND: The authors designed and implemented a complete curriculum in ophthalmic pathology using IBM- and Macintosh-based interactive videodisc (IVD) technology. They also redesigned a portion of this curriculum for a new television-based platform, compact disc-interactive (CD-I). METHODS: The following issues were addressed: curriculum design, instructional design, the assembly of illustrations and the ownership of such materials, the generation of computer-based medical art and animation, and programming. The issue of academic credit for faculty participating in this effort also was considered. RESULTS: The computer-based IVD program provides the following features: (1) rapid access to thousands of high-quality illustrations with the option of superimposing graphic labels and text directly over pictures; (2) the ability to view enlargements of photographs; (3) an online glossary to view definition of terms coupled with high-quality photographs; and (4) a dynamic introduction to pathophysiology using interactive animation sequences. The authors were able to incorporate the same interactive features into the CD-I version. High-quality medical illustrations can be used effectively on the CD-I platform. CONCLUSIONS: Computer-based multimedia workstations are relatively expensive for personal use but may be useful if the equipment can be shared in a learning center or library. Compared with interactive computer-based solutions, consumer-oriented television-based technology such as CD-I is a relatively inexpensive vehicle for providing continuing medical education programs intended for use in the individual practitioner's office or home.
Compact Disks↗
The prognostic value of tumor blood vessel morphology in primary uveal melanoma.
BACKGROUND: It is possible to identify at least nine vascular patterns in melanomas of the ciliary body and choroid from histologic sections. An association between the presence of at least one closed vascular loop and death from metastases was shown in a matched-pair, case-control study of 40 patients whose eyes were removed for ciliary body or choroidal melanomas. METHODS: Two independent observers who were masked to the follow-up of patients examined histologic preparations of 234 eyes removed for ciliary body or choroidal melanomas for the presence of each of the tumor vascular patterns. Statistical analyses included tests for interobserver reliability, Kaplan-Meier survival curves, and the fitting of Cox regression models. RESULTS: The detection of each of the nine vascular patterns is highly reproducible. The Cox model indicates that the presence of vascular networks, defined as at least three back-to-back closed vascular loops, is the feature most strongly associated with death from metastatic melanoma. Other significant factors in the Cox model include (in descending order of importance) largest tumor dimension, mitoses, the parallel with cross-linking vascular pattern, age, the presence of tumor-infiltrating lymphocytes, and male gender. CONCLUSIONS: The presence of vascular networks provides the most significant association with death from metastatic melanoma of all variables tested. The presence of this pattern should be recorded on pathology reports. If it becomes possible to detect this vascular pattern clinically using a noninvasive imaging technique, then ophthalmologists may be able to determine the likely biologic behavior of a melanoma before resorting to the removal of tissue.
Adolescent↗