Coats' disease as a cause of anterior chamber cholesterolosis.
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Anterior Chamber↗
Biomedical subjects
C L Shields
Publications and source records attributed to C L Shields.
Melanoma-associated retinopathy.
PURPOSE/METHODS: A 64-year-old man with a history of maxillary antrum melanoma had abrupt-onset night blindness and photopsia. RESULTS/CONCLUSIONS: Ophthalmologic examination and electroretinogram suggested melanoma-associated retinopathy. Serum produced a weak but specific labeling of human bipolar cells by indirect immunofluorescence. Complete excision of melanoma may have contributed to low levels of circulating autoantibodies. The identity of the retinal bipolar antigen recognized by melanoma-associated retinopathy autoantibodies is needed for more accurate diagnosis.
Electroretinography↗
Metastatic tumors to the iris in 40 patients.
PURPOSE: Metastatic cancer to the iris is rare, and the best approaches to clinical recognition and treatment of this neoplasm are not widely known. We reviewed a series of patients with metastatic cancer to the iris and elucidated the clinical variations, diagnostic approaches, and treatment of this neoplasm. METHODS: The files of the Wills Eye Hospital Ocular Oncology Service were surveyed, and cases of metastatic cancer to the iris were extracted for further analysis. General data, systemic data, tumor characteristics, diagnostic methods used, treatment, and prognosis were tabulated. RESULTS: Of 512 patients with uveal metastasis, the iris was involved in 40 (7.8%). The metastasis originated from breast carcinoma in 16 cases, lung carcinoma in 11, carcinoid tumor in three, melanoma in three, colonic carcinoma in two, and esophageal, laryngeal, prostate, and kidney carcinoma in one case each. In one case the primary tumor was never identified. There was no history of primary cancer in 13 (32%) of 40 patients. All iris metastases were unilateral, and secondary glaucoma was present in 15 (38%). Fine-needle aspiration biopsy of the iris lesion helped to establish the diagnosis in 11 cases. Treatment with chemotherapy, radiotherapy, or both, achieved local tumor control in all patients. The overall mean survival was 20 months and the median survival was 13 months after diagnosis of the iris metastasis. CONCLUSIONS: Iris metastasis can show a spectrum of clinical variations, but its features are generally distinctive enough to differentiate it from other intraocular neoplasms and inflammations. Treatment consists of chemotherapy, which was sometimes combined with ocular irradiation. The visual prognosis was good but the systemic prognosis was generally poor.
Adult↗
Multinucleate cell angiohistiocytoma of the orbit.
PURPOSE: A 31-year-old had a five-year history of painless progressive swelling of her right upper eyelid. METHOD: A mass was removed from the superonasal aspect of the right orbit. RESULTS: The orbital mass was composed of a collagenous stroma with capillary channels and irregular giant cells. The findings were characteristic of multinucleate cell angiohistiocytoma. CONCLUSION: Multinucleate cell angiohistiocytoma should be included in the differential diagnosis of circumscribed orbital tumors.
Adult↗
Natural course and histopathologic findings of lacrimal gland choristoma of the iris and ciliary body.
PURPOSE: To show a well-documented clinicopathologic correlation of lacrimal gland choristoma of the iris and ciliary body, to review the literature on the subject, and to recommend treatment of this condition. METHODS: A congenital iridociliary mass was removed by iridocyclectomy when a female infant was 19 months old because it had produced a large cyst, secondary glaucoma, a vascularized corneal pannus, focal cataract, and iris heterochromia secondary to pigment dispersion. The excised mass was studied by routine histopathologic methods. RESULTS: The mass proved histopathologically to be a lacrimal gland choristoma composed of mature lacrimal gland tissue associated with a large epithelial-lined cyst and several smaller cysts. Postoperatively, the glaucoma resolved and the child had visual acuity of 20/40 14 months after surgery. CONCLUSIONS: Lacrimal gland choristoma of the anterior uvea has typical clinical features that should indicate that correct diagnosis. It is a fleshy, often cystic, lesion with an irregular, cerebriform surface that appears identical to the lacrimal gland in the orbit. Although the mass itself is generally stable, secondary cysts in the lesion can enlarge and secondary glaucoma and other complications can develop. Consequently, affected patients should be followed up at close intervals and surgical excision performed if such complications begin to develop.
Choristoma↗
Orbital varix presenting as a subconjunctival mass.
A 39-year-old woman presented with a vermiform superior conjunctival mass that progressively enlarged during 4 years of follow-up. Although magnetic resonance imaging suggested that the lesion was located in the superior forniceal conjunctiva, surgical exploration disclosed a vascular anomaly (varix) that extended deep into the orbit. The clinical features and management of orbital varices are discussed.
Adult↗
Patterns of indocyanine green videoangiography of choroidal tumours.
BACKGROUND: Indocyanine green video-angiography is a recently popularised technique for imaging the retina and choroid. Little is known about the value of this technique in the evaluation of choroidal tumours. METHODS: Indocyanine green video-angiograms of 51 patients with choroidal tumours, including 32 with choroidal melanoma, five with choroidal naevus, four with choroidal metastasis, four with choroidal haemangioma, one with choroidal osteoma, one with choroidal vortex vein varix, and four with irradiated choroidal melanoma were reviewed in a masked fashion. RESULTS: The choroidal melanoma group achieved maximal fluorescence at an average of 18.2 (range 0.4 to 60) minutes after injection. At maximum fluorescence, the pattern varied from hypofluorescent in 17 cases, to isofluorescent in eight cases, and hyperfluorescent in seven cases. Non-pigmented choroidal melanoma generally showed an earlier average onset of fluorescence than the pigmented choroidal melanoma (mean 28 versus 185 seconds, respectively) (p = 0.04). The two subgroups otherwise overlapped substantially in angiography characteristics. The choroidal metastasis group demonstrated maximal fluorescence at an average of 8.9 (range 1.7 to 13) minutes. All choroidal metastases had a homogeneous diffuse fluorescence with late isofluorescence. The choroidal metastases allowed a subtle blurred perception of the normal choroidal pattern through the tumour. The choroidal haemangioma group revealed very characteristic findings with an onset of filigree fluorescence at an average of 0.6 (range 0.4 to 0.7) minutes with little variation. The maximal fluorescence was typically hyperintense in all cases and was achieved at an average of 1.2 minutes and was reached by 1.8 minutes in all cases. In these cases the fluorescence appeared as a lacy diffuse 'fluorescent mulberry' pattern with visibility of the vascular channels and demonstrated 'washout' of the dye in the late frames. CONCLUSION: Indocyanine green may be a useful adjunct in the differentiation of amelanotic choroidal melanoma, choroidal metastasis, and choroidal haemangioma. The different patterns of fluorescence may be explained by the intrinsic choroidal vascular architecture in these three tumours.
Brachytherapy↗
Treatment of non-resectable malignant iris tumours with custom designed plaque radiotherapy.
BACKGROUND: Plaque radiotherapy is the most common method of managing posterior uveal melanoma but its use for iris melanoma and iris metastases has not yet been evaluated. METHODS: Fourteen patients with non-resectable iris melanoma and four with iris metastasis were treated with plaque radiotherapy. The tumour response to treatment and the local side effects of the radioactive plaque were evaluated. RESULTS: In the iris melanoma group over a mean follow up of 26 (range 6-75) months, the tumour regressed in 13 of the 14 patients (93%) and recurred as diffuse seeding in one patient (7%). Despite large doses of radiation given transcorneally, the cornea developed epitheliopathy, abrasion, and oedema in only one case each. The major radiation side effects were localised iris vasculopathy without glaucoma in two cases, posterior synechiae in five cases, and cataract in six cases. In the iris metastasis group, tumour regression was observed in all four patients (100%) and radiation side effects were not evident over the relatively short mean follow up period of 8 (range 4-9) months. All of the 14 patients with irradiated iris melanoma have remained systemically healthy without metastasis while three of the four patients with irradiated iris metastases have died of metastases from the primary neoplasm. CONCLUSION: Custom designed plaque radiotherapy appears to be an effective alternative method of controlling non-resectable diffuse iris melanoma and solitary iris metastasis and has relatively few side effects.
Brachytherapy↗
Uveal melanoma and familial atypical mole and melanoma (FAM-M) syndrome.
We conducted this study to determine whether occurrence of primary uveal melanoma in the setting of familial atypical mole and melanoma (F A M-M) syndrome (an autosomal dominant cutaneous preneoplastic syndrome) follows a pattern of a hereditary cancer predisposition syndrome. A retrospective review of 4600 consecutive patients with primary uveal melanoma revealed eight patients with biopsy-proven F A M-M syndrome. The clinical profile of these patients was studied and their kindreds analyzed. In patients with F A M-M syndrome, the uveal melanoma occurred at a relatively young age (mean 40 years; range 10-52 years). The diagnosis of F A M-M syndrome preceded or followed the diagnosis of uveal melanoma by as much as 10 years. None of the patients had an associated nonmelanocytic malignancy. Three of the eight patients had a positive family history of melanoma (cutaneous melanoma (2) and uveal melanoma (1). The authors conclude that the occurrence of primary uveal melanoma in the setting of F A M-M syndrome does not follow a clear pattern of a hereditary cancer predisposition syndrome.
Adult↗
Localized transscleral staphylococcal abscess simulating a neoplasm.
A 47-year-old woman with a history of breast cancer developed a focal epibulbar mass in the right eye. The initial diagnosis was nodular episcleritis, but the lesion failed to respond to local and systemic corticosteroids. The rule out an epibulbar metastatic carcinoma an excisional biopsy was performed, which demonstrate a localized staphylococcal abscess that had locally eroded the sclera and exposed the underlying uveal tract. Covering the defect with a scleral patch graft and promptly instituting oral amoxicillin/clavulanic acid and topical cefazolin treatment resulted in an uncomplicated recovery. Infectious scleral abscess in an uncommon entity and the differential diagnosis includes nodular episcleritis and epibulbar metastatic tumor.
Abscess↗
Endogenous endophthalmitis simulating retinoblastoma. The 1993 David and Mary Seslen Endowment Lecture.
BACKGROUND: Among conditions that can simulate retinoblastoma, endogenous endophthalmitis is quite rare. METHODS: Case records of six children with unusual forms of endogenous endophthalmitis, all of whom were referred to the authors because retinoblastoma was a strong diagnostic consideration, were reviewed. The clinical features that may help differentiate atypical endophthalmitis from retinoblastoma were investigated. RESULTS: The final diagnosis in these cases included idiopathic subretinal abscess, streptococcal endophthalmitis, idiopathic retinovitreal abscess, cytomegalovirus endophthalmitis, Candida endophthalmitis, and meningococcal endophthalmitis. All of the affected children presented primarily with ocular findings without serious systemic infection. Although these conditions closely simulated retinoblastoma, they were more likely to have signs of concurrent or prior inflammation. CONCLUSION: Differentiation between infectious conditions and retinoblastoma can sometimes be difficult, but clues as to the diagnosis can be obtained from careful clinical examination.
Abscess↗
Iris melanoma in ocular melanocytosis.
A pigmented, circumscribed iris lesion thought to be a nevus was noted in the right eye of a 64-year-old man with congenital ocular melanocytosis. Although the patient had excess episcleral and choroidal pigmentation, the iris in the affected eye was blue. Two years later, growth was documented, suggesting that the lesion was malignant. The tumor was resected by a sector iridectomy and studied by light microscopy. Histopathologically, the tumor was shown to be a malignant melanoma of the mixed-cell type. No evidence of congenital melanocytosis was found in the adjoining normal iris. This is a well-documented case of a malignant melanoma of the iris arising in a blue, uninvolved iris in a patient with sectoral congenital ocular melanocytosis. Although this specific association has not been previously reported, we believe that any pigmented uveal tumor occurring in the setting of congenital ocular melanocytosis should be observed closely for growth that can signal malignant transformation.
Choroid Neoplasms↗
Risk factors for growth and metastasis of small choroidal melanocytic lesions.
PURPOSE: To investigate the clinical features that predict growth and metastasis of an unselected group of small melanocytic choroidal tumors. METHODS: A retrospective review was performed on 1329 patients with small melanocytic choroidal tumors measuring 3 mm in thickness or less. Clinical parameters of the patient and tumor were extracted and analyzed for their relationship to eventual tumor growth and metastasis using a Cox proportional hazards regression model. RESULTS: Tumor growth was documented in 18% of patients. The factors predictive of tumor growth (multivariate analysis) included greater tumor thickness, posterior tumor margin touching optic disc, symptoms of flashes, floaters, and blurred vision, orange pigment on the tumor surface, and the presence of subretinal fluid. The relative risk (rr) was greatest for initial tumor thickness > 2.0 mm (rr 5.2) and posterior margin touching the optic disc (rr 2.6). After adjusting for significant tumor variables, the effect of interventional tumor treatment showed a decreasing risk for tumor growth as compared to continued observation without treatment. Of 1329 patients, 35 (3%) developed metastases. The factors predictive of metastases (multivariate analysis) included: posterior tumor margin touching the optic disc, documented growth, and greater tumor thickness. The relative risk for metastases was greatest for tumor thickness 1.1-3.0 mm (rr 8.8) and growth (rr 3.2). CONCLUSION: Of small choroidal melanocytic tumors measuring 3 mm or less in thickness at the time of initial examination, 18% demonstrate growth and 3% metastasize during the period of followup. Based on this analysis, the clinical features of these tumors can be used to estimate the risk for tumor growth and metastases and assist the clinician with patient management.
Adolescent↗
Risk factors for growth and metastasis of small choroidal melanocytic lesions.
BACKGROUND: The management of small melanocytic choroidal tumors is controversial. An important reason for this controversy is that the natural course and metastatic potential of these lesions are not defined clearly. Prior studies that have attempted to elucidate the natural course of these lesions have focused on selected small groups of patients with presumed small choroidal melanomas. There are no large studies investigating the growth potential and metastatic potential for the spectrum of small melanocytic choroidal tumors when considered as an unselected whole group. In addition, the clinical features of these tumors predictive of metastases have not yet been identified. METHODS: A retrospective review was performed on 1329 patients with small melanocytic choroidal tumors measuring 3 mm or less in thickness. Clinical parameters of the patient and tumor were obtained and analyzed for their relation to eventual tumor growth and metastasis using a Cox proportional hazards regression model. RESULTS: Tumor growth was documented in 18% of patients. The factors predictive of tumor growth (multivariate analysis) included greater tumor thickness (P = 0.0001), posterior tumor margin touching optic disc (P = 0.0001), symptoms of flashes, floaters (P = 0.002), and blurred vision (P = 0.003) relative to no symptoms, orange pigment on the tumor surface (P = 0.004), and the presence of subretinal fluid (P = 0.05). The relative risk (RR) was greatest for initial tumor thickness 2.1 to 3.0 mm (RR = 5.2) and tumor thickness 1.1 to 2.0 mm (RR = 4.3) relative to tumors 1 mm or less in thickness, as well as posterior margin touching the optic disc (RR = 2.6). After adjusting for significant tumor variables, the effect of interventional tumor treatment showed a decreasing risk for tumor growth compared with continued observation without treatment. Of 1329 patients, metastases developed in 35 (3%). The factors predictive of metastases (multivariate analysis) included posterior tumor margin touching the optic disc (P = 0.003), documented growth (P = 0.003), and greater tumor thickness (P = 0.004). The relative risk for metastases was greatest for tumor thickness 1.1 to 3.0 mm (RR = 8.8) and growth (RR = 3.2). CONCLUSION: Of small choroidal melanocytic tumors measuring 3 mm or less in thickness at the time of initial examination, 18% demonstrated growth and 3% metastasized during the period of follow-up. Based on this analysis, the clinical features of these tumors can be used to estimate the risk for tumor growth and metastases and assist the clinician with patient management.
Adolescent↗
Uveal melanomas in black patients: a case series and comparative review.
Uveal melanomas are rare in black patients. Of a total of 2586 patients with the diagnosis of posterior uveal melanoma who were managed in the Oncology Service at Wills Eye Hospital from 1974 to 1987, 10 patients (0.39%) were black. Data on patient age (mean: 53.9 years), sex (male-to-female ratio: 7:3), and relative frequency of disease between black (0.39% of total cases) and white patients were similar to that of previous reports. The distinguishing characteristics (incidence, risk factors, complications, and prognostic indicators) of uveal melanoma in black versus white patients also were reviewed.
Adult↗
Rarity of somatic and germline mutations of the cyclin-dependent kinase 4 inhibitor gene, CDK4I, in melanoma.
Evidence from cytogenetics, multipoint linkage analyses of familial melanoma, and loss of heterozygosity studies of familial and sporadic melanomas support localization of a melanoma susceptibility or tumor suppressor gene at chromosomal region 9p21-23. Recently, the inhibitor of cyclin-dependent kinase 4 (CDK4I; also known as p16INK4, multiple tumor suppressor 1, or CDKN2 gene) has been mapped to 9p21 and shown to be mutated or deleted in a large fraction of cell lines derived from many tumor types, including melanoma, suggesting that this gene could be a melanoma suppressor gene. In order to test for somatic mutations in the CDK4I gene in tumors, DNAs from 30 surgically resected melanomas of both cutaneous and uveal origins were sequenced. No mutations were detected in the coding region of the CDK4I gene, while mutations or deletions were detected in 60% (9 of 15) of the cultured melanoma cell line DNAs. Among presumptive familial cases, nine of which were members of families with one or two other documented melanoma cases, no germline mutations were detected by sequence analysis. A deletion in the second exon of the CDK4I gene was found in one germline allele of a familial melanoma patient from a family with eight affected first degree relatives. These results not only support the suggestion that the CDK4I gene is a familial malignant melanoma gene, they also suggest the presence of another suppressor gene locus within 9p21 which is the target of loss of heterozygosity in sporadic melanomas.
Base Sequence↗
Optic nerve invasion of retinoblastoma. Metastatic potential and clinical risk factors.
BACKGROUND: Optic nerve invasion is one of the predictors for retinoblastoma metastases. This study was designed to investigate the risk of optic nerve invasion and clinical features that may identify those children with optic nerve invasion. METHODS: We reviewed the charts of 289 children with retinoblastoma treated initially with enucleation. Logistic regression analysis was performed to assess the risk for metastases from varying degrees of optic nerve invasion and to assess the clinical and histopathologic predictors of optic nerve invasion. RESULTS: There were 84 eyes (29%) with optic nerve invasion. The invasion was prelamina cribrosa in 44 cases (15%), up to but not posterior to the lamina cribrosa in 21 cases (7%), posterior to the lamina cribrosa but not to the cut end of the optic nerve in 17 cases (6%), and to the site of optic nerve transection in 2 cases (1%). Patients with optic nerve invasion were more likely to develop metastasis (P = 0.0016), particularly those with invasion to the postlaminar and cut section of the optic nerve (P = 0.0001). Development of metastasis was not statistically associated with laminar or prelaminar involvement. If those patients with choroidal invasion simultaneous with optic nerve invasion were excluded from evaluation, the presence of optic nerve invasion alone was not significant for development of metastasis. The clinical factors found to be predictive for optic nerve invasion from a univariate analysis included exophytic growth pattern (P = 0.011), elevated intraocular pressure (> 22 mm Hg) (P = 0.02), and tumor thickness greater than or equal to 15 mm (P = 0.03). The histopathologic factor significantly associated with optic nerve invasion (univariate analysis) was simultaneous choroidal invasion (P = 0.001). A trend toward an association with optic nerve invasion was found with vitreous hemorrhage (P = 0.06), iris neovascularization (P = 0.10), and poorly differentiated retinoblastoma (P = 0.07). A multivariate analysis showed the most significant clinical factors to be exophytic growth pattern (P = 0.002), tumor thickness greater than or equal to 15 mm (P = 0.01), and vitreous hemorrhage (P = 0.05). CONCLUSIONS: Optic nerve invasion of retinoblastoma beyond the lamina cribrosa is associated with a greater metastatic risk. Large exophytic retinoblastoma with secondary glaucoma is at highest risk for optic nerve invasion.
Child, Preschool↗
Use of the hydroxyapatite ocular implant in the pediatric population.
OBJECTIVES: There is always a hesitancy to use an ocular implant after enucleation in children, especially in cases of eyes enucleated for retinoblastoma. DESIGN AND SETTING: In this prospective study, we report our experience of 60 consecutive cases in which we used the hydroxyapatite ocular implant after enucleation in children younger than age 10 years. RESULTS: The mean age at the time of enucleation and hydroxyapatite placement was 27 months (range, 1 to 108 months). The histopathologic diagnoses after enucleation included retinoblastoma in 51 patients, endophthalmitis in two patients, persistent hyperplastic primary vitreous in two patients, neovascular glaucoma resulting from Coats' disease in one patient, uveal melanoma in two patients, undifferentiated intraocular neoplasm in one patient, and blind painful traumatized eye in one patient. After a mean follow-up of 19 months (range, 6 to 36 months), two cases of conjunctival erosion and five cases of conjunctival thinning were recorded. These problems were associated with a flat posterior prosthesis vault in all seven cases. There were no cases of orbital cellulitis, implant extrusion, or implant migration. All children showed good small-degree prosthesis motility despite the lack of peg placement. Only one older child underwent drilling and peg placement and she had excellent small- and large-degree prosthesis motility. We generally postpone the drilling and peg placement stage and tedious prosthesis revision in children until they are able to fully cooperate with the ocularist. CONCLUSIONS: The hydroxyapatite ocular implant is well tolerated and provides good prosthesis motility in children with few complications. It is critical for the ocularist to fit the prosthesis comfortably with a high posterior vault.
Child↗