Bilateral choroidal metastases from endobronchial carcinoid treated with somatostatin analogues

Objective: To describe a patient with bilateral multifocal choroidal metastases from an endobronchial carcinoid treated with a somatostatin analogue. Method: A 60-year-old woman presenting with photopsia in the left eye underwent an extensive ophthalmic examination, including fluorescein angiography, OCT and ultrasound. Results: Fundoscopy revealed a small retinal tear in the left eye, for which she received laser treatment. In addition, choroidal masses were detected in both eyes. Her medical history of a pneumectomy for a bronchial carcinoid six years earlier together with recent elevated chromogranin A blood levels prompted a diagnosis of choroidal metastases. Subsequently, a Gallium-68 DOTANOC positron emitting tomography/computer tomography scan revealed a spinal cord metastasis and mediastinal as well as mesenterial lymph node invasion. Systemic treatment with Sandostatin (R), a somatostatin analogue was started. Up until two years after the initial presentation and treatment, these choroidal lesions remained stable without any signs of growth. Conclusion: Endobronchial carcinoid tumors have an indolent nature and long-term follow-up is recommended for early detection of metastases. Although treatment with somatostatin analogues rarely induces complete tumor regression, tumor stabilization and prevention of symptoms related to hormone secretion is achieved. This well-tolerated systemic treatment provides a worthy alternative treatment for choroidal metastasis compared to classic radiotherapy without any risk of radiation or laser-related visual loss

Peripheral ischaemic retinopathy and neovascularisation in a patient with subacute streptococcus mitis-induced bacterial endocarditis

Objective: To describe a patient with peripheral retinal ischaemia and neovascularisation who was diagnosed with streptococcus mitis-induced bacterial endocarditis. Methods: Retrospective analysis of case report. A 57-year-old man presented with a history of a rapidly progressive, bilateral, painless visual loss. He also suffered from pain in the neck and lower back and a weight loss of 10 kg. He underwent a full ophthalmologic work-up, laboratory investigations, and imaging of the spine.Results: BCVA was reduced to 20/40 in the right eye and 20/32 in the left eye. Fundoscopy showed rare intra-retinal haemorrhages including few Roth spots and cotton wool lesions. Fluorescein angiography demonstrated large areas of peripheral retinal ischaemia and neovascularisation. Imaging of the spine showed spondylodiscitis on several levels. Further imaging and blood cultures confirmed bacterial endocarditis of the mitral valve. Streptococcus mitis was subsequently identified as the causative organism. Conclusion: Peripheral retinal ischaemia and neovascularisation were previously unrecognised as a feature of infectious endocarditis. Therefore, their presence, apart from the classic Roth spots, should prompt the consideration of infectious endocarditis in the etiologic work-up

Diagnostic criteria for Stickler syndrome based on comprehensive clinical and molecular analysis

Stickler syndrome is a heterogeneous disorder variably affecting the ocular, orofacial, auditory and skeletal system. Mutations in COL2A1, COL11A1 and COL11A2 have been found to cause Stickler syndrome and result in slightly distinct phenotypes, referred to as type 1, type 2 and type 3 respectively. Due to the large phenotypic variability, no consensus about minimal clinical diagnostic criteria exists. Currently, diagnosis is mainly based on expert opinion and positive mutation analysis. The aim of this study is to better define the syndrome and its different types by creating clinically-based guidelines. Medical records of more than 250 probands with a clinical suspicion of Stickler syndrome were reviewed for relevant symptoms and molecular results. COL2A1 analysis was performed in all patients, and COL11A1 and COL11A2 were subsequently analyzed in the COL2A1-negative patients. In 90% of the probands, the disease-causing mutation was detected, of which 82% was located in the COL2A1 gene, 14% in COL11A1 and 4% in COL11A2. Most COL2A1 mutations lead to haploinsufficiency (nonsense mutations, out-of-frame deletions), whereas the majority of mutations in COL11A1/COL11A2 exhibit a dominant-negative effect (in-frame exon deletions, glycine substitutions). Symptoms that are more present in the mutation-positive patients and thus stronger direct towards Stickler syndrome, are high myopia, retinal detachment, cleft palate and a positive familial history suggesting autosomal dominant inheritance. Hearing loss, joint hypermobility and premature arthropathy are frequently found in Stickler syndrome, but are less specific. The main characteristics differentiating the three types of Stickler syndrome are appearance of the vitreous (membranous in type 1, beaded in type 2 and normal in type 3) and severity of hearing loss (mild high-frequency hearing loss in type 1, moderate pan-frequency hearing loss in type 2 and type 3), although this distinction is not absolute. Based on these clinical as well as molecular results, diagnostic criteria for the different types of Stickler syndrome using a point-scale of different symptoms are proposed. These novel criteria may guide clinicians to better diagnose Stickler syndrome and might help to select the correct molecular analysis