Autosomal recessive bestrophinopathy is a rare genetic disorder characterized by central vision loss, retinopathy, absence of an electrooculogram light rise, and decreased electroretinogram. Other findings include dispersed punctate flecks, macular neurosensory retina fluid build-up, hyperopia, macular thinning, and (less commonly) angle-closure glaucoma.It is caused by hereditary autosomal recessive mutations in the BEST1 gene, located in chromosome 11, and it has been described in less than 20 individuals from 10 families worldwide. == References ==
creatine kinase
Anti-Jo-1 antibody testing
Electromyography
Muscle biopsy
Pulmonary function testing
Lung biopsy
Imaging such as High Resolution computed tomography In certain situations, testing of other antibodies, specific imaging (MRI, thoracic high resolution computed tomography), and swallowing evaluation may be needed. Treatment
Unfortunately, treatment for the anti-synthetase syndrome is limited, and usually involves immunosuppressive drugs such as glucocorticoids. For patients with pulmonary involvement, the most serious complication of this syndrome is pulmonary fibrosis and subsequent pulmonary hypertension.Additional treatment with azathioprine and/or methotrexate may be required in advanced cases. Prognosis
Prognosis is largely determined by the extent of pulmonary damage. References


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