Systemic Associations of Sarcoid Uveitis: Correlation With Uveitis Phenotype and Ethnicity.

PURPOSE: To examine systemic associations of sarcoid uveitis and association with uveitis clinical phenotype and ethnicity. DESIGN: Retrospective cross-sectional study. SUBJECTS: A total of 362 subjects with definite or presumed sarcoid uveitis from Moorfields Eye Hospital, Royal Victorian Eye and Ear, and Auckland District Health Board. METHODS: Data were collected from the review of clinical notes, imaging, and investigations. Sarcoidosis was diagnosed in accordance with the International Workshop on Ocular Sarcoidosis guidelines. MAIN OUTCOME MEASURE: Diagnosis of associated systemic disease secondary to sarcoidosis. RESULTS: A total of 362 subjects with sarcoid uveitis were identified. Median age was 46 years, and 226 (62.4%) were female. Granulomatous anterior uveitis (47.8%), intermediate uveitis with snowballs (46.4%), and multifocal choroiditis (43.1%) were the most frequent clinical presentations, and disease was bilateral in 313 (86.5%). Periphlebitis was observed in 21.0%, and solitary optic nerve or choroidal granuloma in 11.3%. Lung parenchymal disease was diagnosed in 200 subjects (55.2%), cutaneous sarcoid in 98 (27.1%), sarcoid arthritis in 57 (15.7%), liver involvement in 21 (5.8%), neurosarcoid in 49 (13.5%), and cardiac sarcoid in 16 subjects (4.4%). Subjects with cardiac sarcoid were less likely to have granulomatous anterior uveitis (P = .017). Caucasian subjects were older at presentation (48 vs 41 years; P = .009), had less granulomatous anterior uveitis (26.4% vs 51.7%; P < .001), and were less likely to present with cutaneous involvement (23.1% vs 35.4%; P = .040). CONCLUSIONS: Ophthalmologists need to be aware of the systemic associations of sarcoid uveitis, in particular potentially life-threatening complications such as cardiac sarcoidosis. Differences observed in uveitis phenotype and between ethnicities require further investigation.

Sarcoidosis-related Uveitis: Clinical Presentation, Disease Course, and Rates of Systemic Disease Progression After Uveitis Diagnosis.

OBJECTIVE: To document the clinical presentation, treatment, and visual outcome of sarcoid uveitis and to determine the timing and potential risk factors of sarcoidosis progression to symptomatic systemic disease from the time of sarcoid uveitis diagnosis. DESIGN: Retrospective, interventional case series. METHODS: Subjects: Patients with dual diagnoses of uveitis and presumed/biopsy-proven sarcoidosis. PROCEDURE: Retrospective review of 143 patient records from the Royal Victorian Eye and Ear Hospital and Eye Surgery Associates in Melbourne, Australia, between October 1990 and April 2014 coded with the dual diagnoses of uveitis and sarcoidosis. Only patients with uveitis and presumed or biopsy-proven sarcoidosis (N = 113) were included. MAIN OUTCOME MEASURES: Ascertainment of rate and time (months) to the development of symptomatic systemic sarcoidosis from uveitis onset; comparison of the patient demographics, characteristics of uveitis, treatment, and visual outcome between those who developed systemic sarcoidosis and those who remained systemically asymptomatic. RESULTS: Uveitis was the initial presenting complaint of sarcoidosis in 78.8% (n = 89). Twenty-three patients had concurrent undiagnosed systemic disease at presentation and 29 subsequently developed symptomatic sarcoidosis in an organ uninvolved at uveitis onset. The median time to the development of symptomatic systemic sarcoidosis was 12 months. No statistically significant association was ascertained between any particular uveitis characteristic and extraocular sarcoidosis progression. CONCLUSION: Uveitis was the initial presentation of sarcoidosis in the vast majority of our subjects. Concurrent undiagnosed systemic sarcoidosis was common at the time of uveitis onset. A high index of suspicion for subsequent systemic progression should also be maintained, especially within the first 5 years of the uveitis diagnosis.

Solitary Mastocytoma of the Eyelid in an Adult Patient With Prolidase Deficiency.

Prolidase deficiency and solitary mastocytoma of the eyelid are both exceedingly rare. Prolidase deficiency is an inherited connective tissue disorder that has systemic sequelae, such as intractable skin ulceration, poor wound healing, recurrent infections, and intellectual impairment. Cutaneous mastocytoma is an isolated, aberrant cutaneous aggregation of mast cells. A case of an adult with severe prolidase deficiency who developed cutaneous mastocytoma of the eyelid was presented. To the authors' knowledge, adult-onset solitary mastocytoma of the eyelid has never been reported previously.

Multicentric hemispheric ganglioglioma in a 20-year-old adult.

Gangliogliomas are rare primary central nervous system tumours that characteristically contain both neuronal and glial neoplastic components. They usually present as solitary, slow growing tumours that are frequently associated with pharmacologically refractory epilepsy. Multicentric variants of the tumour are exceedingly rare. We report a 20-year-old patient with multiple gangliogliomas located in the right frontal, temporal and occipital lobes. He presented with headache, fatigue and occasional nausea and vomiting. MRI revealed three large, distinct tumours with striking cyst formation. Stereotactic craniotomy and excision of the temporal and occipital tumours confirmed ganglioglioma. The coincidence of three distinct gangliogliomas involving the right frontal, temporal and occipital lobes has not been reported to our knowledge.