False positive acetylcholine receptor antibodies in a case of unilateral chronic progressive external ophthalmoplegia: case report and review of literature.

METHODS: We present a rare case with atypical presenting features of unilateral CPEO with a false positive Acetylcholine Receptor Antibody (AchRA) test resulting in diagnostic delay. We illustrate the unilateral nature of this case and demonstrate the caveats of performing myogenic ptosis correction in such patients. We also discuss the differential diagnosis of false positive AchRA, a test commonly performed in the investigation of ptosis. RESULTS: A 34-year old female presented with a more than 3-year history of slowly-progressive, unilateral, right-sided restriction in eye movements and ptosis. Clinical examination showed EOM were grossly restricted in the right eye with a ptosis and normal in the left eye. Serum AchRA was positive on serum enzyme-linked immunosorbent assay (ELISA) however, following two months of oral pyridostigmine therapy there were no signs of clinical improvement. The initial serum sample sent was retested for AchRA by radio-immunoassay (RIA) which came back negative. Subsequently a muscle biopsy was requested which showed the presence of ragged red fibres. CONCLUSION: Unilateral ptosis and ophthalmoplegia is an unusual presentation for CPEO which characteristically produces bilateral symmetrical motility defects. In addition to Myasthenia Gravis elevated AchRA levels have been reported in other autoimmune conditions such as Primary biliary cirrhosis, Eaton Lambert syndrome and Graves's ophthalmopathy. We also highlight the superiority of RIA versus ELISA in the detection of AchRA and illustrate the diagnostic challenge of investigating and managing myogenic ptosis in this complex cohort of patients.

Periocular cutaneous sarcoid: case series and review of the literature.

OBJECTIVES: To illustrate the varying clinical presentations of cutaneous sarcoidosis affecting the periocular region, which may masquerade as other clinical entities such as basal cell carcinoma or seborrheic dermatitis. Furthermore, the authors present an unusual observation of lupus pernio involving the adnexal region with the rare presence of perineural granulomas on histology following incisional biopsy. METHODS: We report a consecutive series of four cases with lesions involving the eyelids with varying clinical appearances. All four patients presented to our adnexal service undergoing incisional diagnostic biopsy. Histology following biopsy subsequently resulted in further investigation and management of both local cutaneous lesions and systemic sarcoidosis. RESULTS: Three of our four cases had evidence of pulmonary involvement on chest X-ray. Over an 18-month period, one of two patients responded to intralesional triamcinolone and subsequently to oral methotrexate (15 mg/week). Two patients were observed with their periocular lesions remaining stable without therapy. CONCLUSIONS: All four patients presented to the adnexal service with lesions of varying morphology and were diagnosed with sarcoidosis following incisional biopsy highlighting the vital role of oculoplastic surgeons in diagnosing this multisystem inflammatory disease. We describe our experience of intralesional triamcinolone, oral methotrexate and watchful observation in the management of such lesions.

False Negative Toxoplasma Serology in an Immunocompromised Patient with PCR Positive Ocular Toxoplasmosis.

PURPOSE: The authors report a case of a 60-year-old Caucasian male with a background of treated Chronic Lymphocytic Leukaemia (CLL) with secondary hypogammaglobulinaemia present with toxoplasma chorioretinitis and negative serum toxoplasma serology on presentation and on subsequent reactivation. METHODS: Retrospective case notes review with fundal photographs. RESULTS: In this case, on initial presentation and on recurrence, the patient's serum anti-Toxoplasma IgG remained negative. The diagnosis was made on quantitative PCR of vitreous initially and aqueous humor on reactivation. CONCLUSIONS: Despite negative serology, one must still consider ocular toxoplasmosis especially in CLL patients where the clinical picture could be compatible. Hypogammaglobulinaemia, the inability to produce IgG antibodies, is a well-recognized complication of CLL. Intraocular fluid sampling is essential in these cases where the sensitivity of PCR on either aqueous or vitreous humor has been shown to be higher in immunocompromised patients.