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Charles E Thirkill

Publications and source records attributed to Charles E Thirkill.

8 recordsLinked to original sources
PubMed2006

Cone dysfunction as a paraneoplastic syndrome associated with retinal antigens approximating 40 kiloDalton.

Reports on cancer-associated retinopathies (CAR) have increased in recent years as the autoimmune reactions responsible have become better understood. The 23-kDalton autoantigen 'recoverin' was the first retinal antigen implicated in CAR, but others have since been described. We report an additional case involving an autoantigen other than recoverin, with five-year follow-up of a 50-year-old woman suffering from the CAR syndrome, with ocular abnormalities restricted to cone dysfunction. The patient had a history of laryngeal carcinoma surgically removed 18 months prior to presenting to the ophthalmologist with photophobia and decreased vision in both eyes. The patient's abnormal retinal hypersensitivity included antibody activity with two retinal antigens approximating 40 kD, located within the outer segments of the photoreceptor layer. To our knowledge, this is the first description of a cancer-associated, cone-specific dystrophy involving an abnormal amount of immunologic activity with two retinal proteins approximating 40 kD, that may prove to be isoforms of the same antigen.

Autoantibodies↗
PubMed2002

Optic neuritis after anthrax vaccination.

OBJECTIVE: To report the occurrence of optic neuritis after anthrax vaccination in two patients. DESIGN: Observational case reports, review of literature. METHODS: Description of clinical history, examination, neuroimaging, and further studies in two patients experiencing optic neuritis in temporal association with anthrax vaccination. MAIN OUTCOME MEASURES: Visual acuity, visual fields. RESULTS: Two patients, 39 and 23 years of age, were seen with acute optic neuritis 1 month and 2 weeks, respectively, after anthrax booster vaccination and successfully treated with intravenous methylprednisolone. The first patient had a typical presentation and course of unilateral retrobulbar optic neuritis with excellent visual recovery. The second patient had a bilateral anterior optic neuritis and has required chronic immunosuppression to maintain his vision. Retinal and optic nerve autoantibodies were present in the second patient. No cross-reactive epitopes between anthrax vaccine and retina/optic nerve were identified. CONCLUSION: Optic neuritis is a potential adverse reaction of anthrax vaccination.

Acute Disease↗
PubMed2002

Progressive subretinal fibrosis and blindness associated with multifocal granulomatous chorioretinitis: A variant of sympathetic ophthalmia.

OBJECTIVE: To report a case of bilateral progressive subretinal fibrosis and blindness with multifocal granulomatous chorioretinitis occurring after intraocular surgery. We propose that this is a variant of sympathetic ophthalmia. DESIGN: Clinicopathologic case report. METHODS: The left enucleated globe was examined by histopathologic methods. The patient's sera were subjected to immunohistochemical studies against retinal antigens, and collagen 2 types in areas of fibrosis were identified. Polymerase chain reaction was used to test for herpes virus DNA in microdissected, formalin-fixed, paraffin-embedded tissue. RESULTS: The enucleated globe demonstrated histopathologic features similar to an entity previously described as progressive subretinal fibrosis with multifocal granulomatous chorioretinitis. The patient's sera demonstrated antibodies directed against retinal photoreceptors and pigment epithelium. Polymerase chain reaction for herpes virus was negative. Immunohistochemical studies demonstrated types III, IV, V, and VI collagen in areas of fibrosis. CONCLUSIONS: The clinical history along with the histopathologic and immunohistochemical findings suggest that progressive subretinal fibrosis with multifocal granulomatous chorioretinitis may represent a variant of sympathetic ophthalmia and that retinal autoimmunity may play a role in its pathogenesis.

Aged↗
PubMed2002

Lymphoma-associated retinopathy.

OBJECTIVE: To describe the clinical, electrophysiologic, and serologic findings in a patient with retinal degeneration associated with Hodgkin's lymphoma. DESIGN: Case report with ancillary immunohistochemical studies. METHODS: A 24-year-old woman experienced night blindness and fundus abnormalities 1 week after initiation of chemotherapy for Hodgkin's lymphoma. Visual fields and full-field electroretinograms (ERGs) were monitored over a 10-year period. Serum antibodies were studied on Western blot reactions on a solubilized extract of bovine retina. Serum antibodies were also evaluated through indirect immunohistochemistry on rhesus monkey retina. RESULTS: Visual field and ERG amplitudes, initially abnormal, became reduced further over 10 years. Serum antibodies were identified that reacted to a retinal protein or proteins approximating 65 kd; these antibodies showed immunologic activity against photoreceptors. CONCLUSIONS: A progressive paraneoplastic retinopathy can occur in association with Hodgkin's lymphoma. The pathogenesis of the retinal degeneration appears to be related to a serum antibody that is reacting to a retinal protein or proteins of approximately 65 kd.

Adult↗
PubMedDate not supplied

Autoimmune retinopathy with RPE hypersensitivity and 'negative ERG' in X-linked hyper-IgM syndrome.

PURPOSE: To report the clinical, electrophysiological, and immunological features of a patient with X-linked hyper-IgM immunodeficiency syndrome type 1 (HIGM1) accompanied by a novel type of autoimmune retinopathy, including retinal pigment epithelium (RPE) hypersensitivity. METHODS: Comprehensive ophthalmological examinations, electrophysiological function testing, and inquiries into the immunological status of a 13-year-old presenting with subacute loss of vision in association with a molecularly confirmed diagnosis of HIGM1 were performed. The patient was genotyped by a PCR-based sequence tag content mapping strategy to define the genetic defect within the causative X-HIM gene TNFSF5. Since conventional allogenic bone marrow transplantation has been reported to cure HIGM1, a peripheral blood stem-cell transplantation was performed. RESULTS: (1) The patient's reduced visual acuity included prolonged dark adaptation and visual field constriction. Electrophysiology revealed a 'negative ERG' indicating post-receptoral dysfunction. (2) Initial immunological examination of the patient's serum identified abnormal antibody activity with components of the photoreceptors and the inner nuclear layer. The patient later developed indications of RPE hypersensitivity. A massively reduced light-peak to dark-trough ratio of the EOG slow oscillations (L/D ratio) corresponded to impaired RPE-photoreceptor complex function. (3) Molecular genetic analyses revealed the patient to be nullizygous for the tumor necrosis factor ligand member 5 gene (TNFSF5; CD40LG). A large chromosomal deletion of approximately 27.6-32.3 kb in size was identified in Xq26. (4) The transplant with its associated immunomodulation appeared to worsen rather than improve the patient's condition. CONCLUSIONS: The fundus appearance and electrophysiological function testing revealed indications of atypical retinal degeneration. However, the clinical course and the serological findings were consistent with those of ocular autoimmunity involving both antiretinal activity and RPE hypersensitivity. In this case, peripheral stem-cell transfusion with its associated chemotherapy failed to benefit the patient's vision; indications of autoimmunity appeared to increase following this treatment.

Adolescent↗
PubMedDate not supplied

Cancer-induced, immune-mediated ocular degenerations.

The means whereby vision can be lost from a disease located distant from the eye include autoimmunity, with sensitization resulting from extraocular stimuli, a process illustrated here by the immunologic confusion caused by cancers. The uncontrolled proliferation of malignancies commonly involves the expression of components of the central nervous system, but a damaging loss of tolerance is rare. When autoimmunity does develop, organ-specific antigens are more often involved than the more generalized and widely disseminated common neuronal components. A focus upon a single antigen is typical of the immune-mediated paraneoplasia, a collection of syndromes identified by unusual antibody reactions. This review provides an outline of the immunologic trail that led to the recognition of autoimmunity in paraneoplastic ocular degenerations, how specific antibody reactions aid in diagnosis, and the possibility of including antibodies in modes for sight-saving intervention. 'Those who do not know history are destined to repeat it'.

Animals↗