Bilateral microphthalmos and orbital cyst.
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Adult↗
Biomedical subjects
C L Shields
Publications and source records attributed to C L Shields.
Central serous chorioretinopathy as a complication of postcardiac transplant corticosteroid therapy.
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Choroid Diseases↗
Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere.
We present a patient with bilateral retinoblastoma and developmental delay who has an abnormal male karyotype containing 47 chromosomes, including an acentric derivative chromosome 13. We postulate that the derivative 13 occurred after a break at 13q14, with the proximal portion of the chromosome forming a ring and the distal portion undergoing duplication. Thus, this patient is trisomic for 13q14-->qter. The derivative chromosome with duplicated distal portion (13q14-->qter) lacked the 13 centromere and was negative for chromosome 13 alpha-satellite DNA by low stringency FISH. Nevertheless, this chromosome is stably transmitted in lymphocytes and fibroblasts. A single primary constriction was observed at band 13q21, consistent with activation of a latent centromere (neocentromere) at this band. The neocentromere on der(13) was positive for multiple centromeric proteins, suggesting that it acts as the functional centromere. By FISH, the Rb gene was present on the normal 13, the proximally derived ring chromosome, but not on the derivative chromosome. Although there was no evidence for disruption of the Rb gene, this chromosome rearrangement most likely results in abnormal expression of the Rb gene product.
Centromere↗
Intraocular surgery after treatment of retinoblastoma.
OBJECTIVES: To analyze the results of intraocular surgery in patients treated for retinoblastoma and to assess the ocular and systemic outcomes. DESIGN: Retrospective noncomparative case series. PATIENTS: Forty-five consecutive patients who underwent an introcular surgery after treatment for retinoblastoma. MAIN OUTCOME MEASURES: (1) Recurrence of retinoblastoma, (2) need for enucleation, and (3) systemic metastasis. Overall outcome was defined as favorable in the absence of any of these measures and unfavorable in the presence of 1 or more. RESULTS: Thirty-four patients (76%) underwent a single procedure of cataract surgery, a scleral buckling procedure, or pars plana vitrectomy and 11 (24%) underwent a combination of 2 or more surgical procedures. In all, 16 patients (36%) achieved final visual acuity better than 20/200. Unfavorable outcomes included recurrence of retinoblastoma in 14 patients (31%), enucleation in 16 (36%), and systemic metastasis in 3 (7%). Five patients (20%) who underwent cataract surgery, 5 (63%) who underwent a scleral buckling procedure, and 9 (75%) who underwent pars plana vitrectomy manifested an unfavorable outcome. The median interval between completion of treatment for retinoblastoma and intraocular surgery was 26 months in patients with a favorable outcome vs 6 months in those with an unfavorable outcome. CONCLUSIONS: Intraocular surgery after treatment for retinoblastoma may be justified in certain exceptional clinical situations. Cataract surgery is safe and effective in most cases. However, the need for a scleral buckling procedure and pars plana vitrectomy may be associated with a higher risk for recurrence of retinoblastoma, enucleation, and systemic metastasis, and a cautious approach is warranted.
Adolescent↗
Adenocarcinoma arising from congenital hypertrophy of retinal pigment epithelium.
Congenital hypertrophy of the retinal pigment epithelium (CHRPE), traditionally regarded as a benign stationary condition, has recently been shown in 5 cases to give rise to an elevated, solid tumor. However, the histopathologic nature of the tumor that arises from CHRPE has not been previously determined. A 65-year-old woman developed a progressively enlarging peripheral fundus tumor that arose from a focus of classic CHRPE. The tumor produced a localized exudative retinal detachment, cystoid macular edema, and surface-wrinkling retinopathy. The mass was removed by local resection, and histopathologic examination revealed a low-grade adenocarcinoma of the retinal pigment epithelium, apparently arising from CHRPE. Although CHRPE is usually a benign nonprogressive lesion, it can give rise to a malignant tumor. Congenital hypertrophy of the retinal pigment epithelium should be observed periodically for development of a neoplasm.
Adenocarcinoma↗
Primary intraepithelial sebaceous gland carcinoma of the palpebral conjunctiva.
Sebaceous gland carcinoma usually arises from meibomian or Zeis glands deep within the eyelid, but it can rarely arise within the conjunctival epithelium without a deep component. We describe a woman with a history of chronic blepharoconjunctivitis unresponsive to topical medications. Examination disclosed confluent papillary hypertrophy of the upper palpebral conjunctiva and deposits of white flaky material. Tarsoconjunctival punch biopsy revealed intraepithelial sebaceous gland carcinoma. Management consisted of frozen section-controlled complete tumor excision with removal of the entire posterior lamella of the right upper eyelid, cryotherapy to the margins, and reconstruction. Histopathologic analysis confirmed primary sebaceous gland carcinoma localized to the conjunctival epithelium without involvement of underlying meibomian or Zeis glands or the caruncle. Patients with unexplained chronic unilateral blepharoconjunctivitis or papillary hypertrophy of the palpebral conjunctiva should be considered for biopsy to rule out neoplasia, even when there is no sign of an underlying eyelid mass.
Adult↗
Sclerochoroidal calcification: clinical manifestations and systemic associations.
BACKGROUND: Sclerochoroidal calcification is an unusual ocular condition that is believed to be idiopathic in most cases. OBJECTIVES: To describe the clinical manifestations of sclerochoroidal calcification and to investigate its possible systemic associations. METHODS: This noncomparative consecutive case series included patients diagnosed as having sclerochoroidal calcification based on clinical characteristics and diagnostic test findings. We analyzed the demographic, systemic, and ocular features of 27 such patients. Systemic evaluation included tests for calcium-phosphorus metabolism in 19 patients and renal tubular hypokalemic metabolic alkalosis syndromes (Bartter or Gitelman syndrome) in 13. RESULTS: All the patients were asymptomatic older (mean age, 70 years) white individuals, incidentally noted as having a choroidal lesion on routine examination. Among 38 eyes, the main referral diagnoses were choroidal metastasis in 10 eyes (26%), choroidal melanoma in 8 (21%), and choroidal nevus in 4 (11%). Sixteen patients (59%) had unilateral clinical findings, while 11 (41%) had bilateral. The Snellen visual acuity was 20/50 or better in 37 eyes (97%). Cogan scleral plaque was visible anterior to the insertion of horizontal rectus muscles in 10 eyes (26%). Among 77 foci, there were a mean of 2 foci of sclerochoroidal calcification in each eye, 41 yellow (53%), 32 yellow-white (42%), 2 white (3%), and 2 orange (3%), measuring a mean 2.6 mm in diameter and 1.1 mm in thickness. The most common locations were postequatorial in 45 (58%), along the temporal vascular arcades in 30 (39%), and in the superotemporal quadrant in 43 (56%). A-scan and B-scan ultrasonography revealed dense echoes compatible with calcium, with orbital shadowing. All the lesions remained stable in size and configuration during a mean follow-up of 38 months. One patient developed a choroidal neovascular membrane over the area of sclerochoroidal calcification. Investigations for abnormal calcium-phosphorus metabolism in 19 patients revealed primary hyperparathyroidism in 1 patient (5%). Clinical and biochemical evaluation of 13 patients demonstrated hypomagnesemia in 6 (46%). Four patients (31%) met the criteria for the diagnosis of Gitelman syndrome. CONCLUSIONS: Sclerochoroidal calcification usually manifests as multiple discrete yellow placoid lesions in the midperipheral fundus of asymptomatic older white individuals. Although most cases may be idiopathic in nature, some patients may have underlying systemic disorders involving abnormal calcium-phosphorus metabolism or renal tubular hypokalemic metabolic alkalosis syndromes. All patients with sclerochoroidal calcification should be tested for these treatable systemic associations.
Adult↗
Ciliary body leiomyoma with anterior chamber invasion.
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Anterior Chamber↗
Chemoreduction for retinoblastoma may prevent intracranial neuroblastic malignancy (trilateral retinoblastoma).
OBJECTIVE: To evaluate whether neoadjuvant intravenous chemotherapy (chemoreduction) for retinoblastoma reduces the risk for associated intracranial neuroblastic tumor (trilateral retinoblastoma). DESIGN: Retrospective consecutive case series. PARTICIPANTS: Two hundred fourteen consecutive children with newly diagnosed retinoblastoma treated at a major ocular oncology center from January 1, 1995, to July 1, 1999. MAIN OUTCOME MEASURE: Development of associated intracranial neuroblastic tumor (trilateral retinoblastoma). RESULTS: During the 54-month study period, 142 patients (66%) received chemoreduction (consisting of vincristine sulfate, etoposide phosphate, and carboplatin therapy) as part of their treatment strategy (chemoreduction group), whereas 72 (34%) were treated with nonchemoreduction methods (nonchemoreduction group). In the chemoreduction group, no associated intracranial neuroblastic tumor developed during the mean 47-month follow-up. Based on a recent meta-analysis of the prevalence of trilateral retinoblastoma, we would have expected the intracranial tumor to develop in 5 to 15 patients with hereditary retinoblastoma. This lack of associated trilateral retinoblastoma in the chemoreduction group was significantly less than expected using binomial distribution (P<.001). In the nonchemoreduction group, associated intracranial tumor (pinealoblastoma) developed in 1 patient, a finding consistent with the expected frequency. CONCLUSION: Chemoreduction protects against the highly fatal associated intracranial neuroblastic tumor (trilateral retinoblastoma). This observation is especially important in children with bilateral or familial retinoblastoma who are at greatest risk for this brain tumor.
Antineoplastic Combined Chemotherapy Protocols↗
Extramedullary plasmacytoma confined to the choroid.
PURPOSE: To report a case of an extramedullary plasmacytoma confined to the choroid. METHODS: Interventional case report with cytopathologic correlation. RESULTS: A 76-year-old asymptomatic woman presented with 2 globular orange and amelanotic choroidal lesions in the right eye. Fine needle aspiration biopsy of one of the choroidal lesions followed by immunocytochemical studies revealed monoclonal plasma cells, diagnostic of plasmacytoma. Systemic evaluation was negative, except for increased serum gamma globulin with immunoglobulin kappa spike on electrophoresis. The patient was managed by ocular external beam radiotherapy. At 9 years follow-up, she was free of local disease and never developed multiple myeloma. CONCLUSION: Extramedullary plasmacytoma confined to the choroid is rare. It may present simulating other common amelanotic choroidal lesions. Fine needle aspiration biopsy and proper systemic evaluation are critical in establishing the diagnosis.
Aged↗
Bilateral breast metastases from choroidal melanoma.
PURPOSE: To report an unusual case of solitary sequential bilateral breast metastases from choroidal melanoma. METHOD: Case report. RESULTS: A 48-year-old woman with a large choroidal melanoma in the left eye was treated with Iodine-125 brachytherapy and responded satisfactorily with decrease in tumor thickness. Thirty-seven months after treatment, she developed a solitary, circumscribed melanoma metastasis to the right breast, and 54 months after treatment, a similar metastasis was detected in her left breast. Both breast tumors were managed with lumpectomy. Systemic examination including magnetic resonance imaging of abdomen, chest, and head have been performed regularly and have been normal. At 61 months after treatment, the patient has no clinical evidence of metastatic disease elsewhere. CONCLUSIONS: Uveal melanoma rarely metastasizes to breast tissue. A breast nodule in a patient with a history of uveal melanoma is most likely a primary breast tumor but may rarely represent a metastasis from uveal melanoma.
Brachytherapy↗
Clinical variations and complications of Coats disease in 150 cases: the 2000 Sanford Gifford Memorial Lecture.
PURPOSE: The purpose of this report is to review the clinical variations and natural course of Coats disease, using strict diagnostic guidelines. METHODS: In a retrospective, consecutive series, Coats disease was defined as idiopathic retinal telangiectasia with intraretinal or subretinal exudation without appreciable signs of retinal or vitreal traction. We reviewed our experience with the clinical features, complications, and diagnostic approaches to Coats disease. RESULTS: In 150 consecutive patients (158 eyes), Coats disease was diagnosed at a median age of 5 years (range, 1 month to 63 years), occurred in 114 males (76%), and was unilateral in 142 patients (95%). There was no predilection for race or laterality. The most common referral diagnoses were Coats disease in 64 cases (41%) and retinoblastoma in 43 (27%). The first symptom or sign was decreased visual acuity in 68 cases (34%), strabismus in 37 (23%), leukocoria in 31 (20%), and 13 patients (8%) were asymptomatic. Visual acuity at presentation was 20/200 to no light perception in 121 eyes (76%). The anterior segment was normal in 142 eyes (90%). The retinal telangiectasia involved the midperipheral or peripheral fundus in 156 of the 158 eyes (99%) and was restricted to the macular area in two eyes (1%); involved mainly the temporal fundus in 66 eyes (42%), inferior fundus in 41 eyes (26%), and more than one sector in 34 eyes (22%). Retinal exudation was present in all 12 clock hours in 86 eyes (55%) and six or more clock hours in 115 eyes (73%). There was a total retinal detachment in 74 eyes (47%) and neovascular glaucoma in 12 (8%). Retinal macrocysts were present in 18 eyes (11%), a vasoproliferative tumor in nine eyes (6%) and retinal neovascularization in four eyes (3%). Fluorescein angiography in 49 of the 158 eyes (37%) disclosed early hyperfluorescence of the telangiectasias and macular edema in 18 of eyes (37%). Ultrasonography typically showed a retinal detachment but no solid mass. CONCLUSIONS: Coats disease is a distinct clinical entity characterized by idiopathic retinal telangiectasia and retinal exudation. It is usually unilateral, occurs mostly in young males, and can cause severe visual loss resulting from exudative retinal detachment. The clinician should follow strict criteria in making the diagnosis, to avoid confusing Coats disease with other forms of exudative retinopathy.
Adolescent↗
Pigmented conjunctival squamous cell carcinoma simulating a conjunctival melanoma.
PURPOSE: To report a pigmented conjunctival squamous cell carcinoma that clinically simulated a conjunctival melanoma. DESIGN: Interventional case report. METHODS: Ocular examination, surgical excision, and clinicopathologic correlation. RESULTS: A 78-year-old white man developed a lightly pigmented mass at the temporal limbus of his right eye. The differential diagnosis included pigmented squamous cell carcinoma and malignant melanoma. Histopathologic examination revealed a malignant squamous cell tumor that contained foci of melanin pigment. The final diagnosis was pigmented conjunctival squamous cell carcinoma. CONCLUSION: Conjunctival squamous cell carcinoma may rarely be pigmented and simulate a conjunctival melanoma.
Aged↗
Classification and management of Coats disease: the 2000 Proctor Lecture.
PURPOSE: To review the methods and results of management in a large series of patients with Coats disease, to determine risk factors for poor visual outcome and enucleation, and to propose a practical classification of Coats disease. METHODS: In a retrospective consecutive series in 150 patients, Coats disease was defined as idiopathic retinal telangiectasia with intraretinal or subretinal exudation without appreciable signs of retinal or vitreal traction. We reviewed our experience with management, including observation, laser photocoagulation, cryotherapy, and various techniques of retinal detachment surgery and enucleation. The anatomic outcome, complications of treatment, visual results, and reasons for enucleation were tabulated. Factors predictive of poor visual outcome (20/200 or worse) and enucleation were determined using Cox proportional hazards regression models. Based on these observations, a staging classification of Coats disease, applicable to treatment selection and ocular prognosis, is proposed. RESULTS: In 117 patients (124 eyes) with a mean follow up of 55 months (range, 6 months to 25 years) primary management was observation in 22 eyes (18%), cryotherapy in 52 (42%), laser photocoagulation in 16 (13%), various methods of retinal detachment surgery in 20 (17%), and enucleation in 14 (11%). Anatomic improvement or stability was achieved in 76% of eyes, and final visual acuity was 20/50 or better in 17 eyes (14%), 20/60 to 20/100 in eight (6%), 20/200 to finger counting in 30 (24%), and hand motion to no light perception in 49 (40%) Enucleation was ultimately necessary in 20 eyes (16%). Risk factors predictive of poor visual outcome (20/200 or worse) included postequatorial (P =.01), diffuse (P =.01), or superior (P =.04) location of the telangiectasias and exudation, failed resolution of subretinal fluid after treatment (P =.02), and presence of retinal macrocysts (P =.02). The main risk factors for enucleation were elevated intraocular pressure (greater than 22 mm Hg; P less than or equal to.001) and iris neovascularization (P less than or equal to.001). Coats disease was classified into stage 1, telangiectasia only; stage 2, telangiectasia and exudation (2A, extrafoveal exudation; 2B, foveal exudation) stage 3, exudative retinal detachment (3A, subtotal; 3B, total); stage 4, total detachment and secondary glaucoma; and stage 5, advanced end-stage disease. Poor visual outcome (20/200 or worse) was found in 0% of eyes with stage 1, 53% with stage 2, 74% with stage 3, and 100% of stages 4 and 5 Coats disease. Enucleation was ultimately necessary in 0% of stages 1 and 2, 7% of stage 3, 78% of stage 4, and 0% of stage 5 disease. CONCLUSIONS: Carefully selected treatment can anatomically stabilize or improve the eye with Coats disease in 76% of eyes. However, poor visual outcome of 20/200 or worse commonly results. Patients who present with stages 1 to 3 Coats disease have the best visual prognosis, and patients with stages 4 and 5 have a poor visual prognosis.
Cryosurgery↗
Pseudohypopyon of orange pigment overlying a stable choroidal nevus.
PURPOSE: To report an unusual case of orange pigment pseudohypopyon overlying a choroidal nevus. METHODS: Observational case report. A 45-year-old man presented with best-corrected visual acuity of 20/25 and metamorphopsia in the right eye secondary to localized subfoveal fluid. The detachment displayed a peculiar appearance of layered orange pigment, like a pseudohypopyon in its inferior aspect. Closer inspection revealed an underlying choroidal nevus and no choroidal neovascular membrane. RESULTS: After 31 months of follow-up without treatment, the size of the nevus and visual acuity remained stable and metamorphopsia continued to resolve as the orange pigment and the subretinal fluid disappeared completely. CONCLUSION: An otherwise stable choroidal nevus can display overlying clumps of orange pigment and rarely massive accumulation of orange pigment in the form of a pseudohypopyon. Orange pigment pseudohypopyon can spontaneously resolve with preserved visual acuity.
Choroid Neoplasms↗
Ring melanoma of the anterior chamber angle: a report of fourteen cases.
PURPOSE: Ring melanoma of the anterior chamber angle is a rare variant of uveal melanoma that manifests as circumferential, flat tumor growth predominantly confined to the trabecular meshwork and other anterior chamber angle structures. We report the clinical and histopathological features, management, and prognosis of ring melanoma of anterior chamber angle. METHODS: A retrospective review of clinical features, management, histopathologic features, and prognosis was performed. Of 8800 patients with uveal melanoma examined on the Oncology Service at Wills Eye Hospital over a 25-year period, only 14 patients (0.2%; 14 eyes) were classified clinically as ring melanoma of the anterior chamber angle. In no case was there appreciable involvement of the iris or ciliary body on clinical examination. RESULTS: The patients were followed elsewhere for a mean of 8 months before intraocular malignancy was suspected. Upon referral to the Oncology Service, the intraocular pressure was greater than 22 mm Hg in the affected eye in all patients (mean, 36 mm Hg; median, 35 mm Hg; range, 24 to 48 mm Hg), and all patients were using at least two glaucoma medications. The melanoma infiltrated the anterior chamber angle for a mean of 10 clock hours (range, 8 to 12 clock hours). Tumor management consisted of enucleation in 13 cases and plaque radiotherapy in one case. Histopathologic examination revealed epithelioid cell type melanoma in one case, mixed cell type in nine, and spindle cell type in four. Of the 13 patients who underwent enucleation, tumor cells were found within the Schlemm canal in all cases. Five cases displayed invasion of the intrascleral canals, and three showed episcleral invasion. With the exception of two recent cases, 12 patients were followed for a mean of 64 months (median, 47 months; range, 23 to 225 months). Distant metastasis to the liver was detected in three of 12 patients (25%) after a mean follow-up of 78 months (median, 70; range, 37 to 128 months). CONCLUSIONS: Ring melanoma of the trabecular meshwork and angle structures is a rare variant of diffuse uveal melanoma. It often masquerades as unilateral glaucoma and can be difficult to recognize clinically unless careful comparative gonioscopy is performed. Despite the relatively small tumor volume, life prognosis is guarded with distant metastasis in 25% at mean 6 years follow-up.
Adult↗
Management of conjunctival and corneal melanoma with surgical excision, amniotic membrane allograft, and topical chemotherapy.
PURPOSE: To illustrate a novel method of management for extensive conjunctival and corneal melanoma. METHODS: Interventional case report. A 40-year-old Caucasian woman presented with a large, diffuse conjunctival melanoma involving 6 clock hours of the limbus. The remaining bulbar conjunctiva and the entire corneal epithelium were affected by diffuse, flat melanosis. RESULTS: The conjunctival melanoma was completely resected microsurgically in one piece without disrupting the tumor. The conjunctival melanosis was treated with double freeze-thaw cryotherapy. The extensive conjunctival defect, involving one-half of the bulbar conjunctiva, was reconstructed with an amniotic membrane allograft. The corneal melanosis was subsequently treated with topical mitomycin C eyedrops. At 8 months follow-up, the conjunctiva and the cornea were completely healed with resolution of all pigment and 20/20 visual acuity. CONCLUSION: Preliminary evidence suggests that combined therapeutic approaches, consisting of extensive tumor removal, cryotherapy, amniotic membrane allograft, and topical mitomyin C, can be effective in the management of diffuse conjunctival and corneal melanoma arising from primary acquired melanosis.
Adult↗
Choroidal melanoma metastatic to the contralateral choroid.
PURPOSE: To report metastasis of choroidal melanoma to the contralateral choroid. METHODS: Interventional case report. In a 49-year-old Caucasian female, a primary choroidal melanoma, left eye, was diagnosed and treated with Ruthenium-106 plaque radiotherapy. The choroidal melanoma showed excellent regression with flattening of the mass and adjacent chorioretinal atrophy. RESULTS: Fifteen years after brachytherapy for choroidal melanoma, left eye, the patient developed a metastatic melanoma to the contralateral choroid as the first sign of metastasis. No history of oculo(dermal) melanocytosis or cutaneous melanoma existed. Systemic evaluation disclosed multiple metastases confined to the liver. CONCLUSION: Metastasis to the contralateral choroid can be the first sign of metastasis from choroidal melanoma.
Brachytherapy↗