Disseminated tuberculosis involving the eye, skin, axillary lymph nodes and lungs in an immunocompetent host.

A female in her early 40s presented to the outpatient clinic for weight loss, fatigue, cough, followed by a gradual painful loss of vision in the right eye associated with redness over the past 3 months. Physical examination revealed bilateral axillary lymphadenopathy and non-healing skin ulcers on the left forearm and the left gluteal region. The patient had no light perception in the right eye and grade 4+ cells in the anterior chamber. A chest X-ray showed a cavitary lesion in the left upper lobe. Histopathological tests from the skin and lymph nodes revealed caseating granulomas, raising the suspicion of tuberculosis. A sputum nucleic acid amplification test was performed, which returned positive for Mycobacterium tuberculosis The patient was treated with antitubercular chemotherapy and showed encouraging signs of progress after the treatment.

Pharmacokinetic interaction between verapamil and ritonavir-boosted nirmatrelvir: implications for the management of COVID-19 in patients with hypertension.

A woman in her 80s was brought to the emergency department for acute onset of generalised weakness, lethargy and altered mental state. The emergency medical service found her to have symptomatic bradycardia, and transcutaneous pacing was done. Medical history was notable for hypertension, hyperlipidaemia, type 2 diabetes, and a recently diagnosed SARS-CoV-2 (COVID-19) infection for which she was prescribed ritonavir-boosted nirmatrelvir (Paxlovid) two days before the presentation. On arrival at the hospital, she was found to have marked bradycardia with widened QRS, hyperglycaemia and metabolic acidosis. Transvenous pacing along with pressor support and insulin were initiated, and she was admitted to the intensive care unit. Drug interaction between ritonavir-boosted nirmatrelvir and verapamil leading to verapamil toxicity was suspected of causing her symptoms, and both drugs were withheld. She reverted to sinus rhythm on the fourth day, and the pacemaker was discontinued.

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy.

PURPOSE: To describe the clinical features, imaging characteristics, and genetic test results associated with a novel compound heterozygous mutation of the BEST1 gene in two siblings with autosomal recessive bestrophinopathy. METHODS: Two siblings underwent a complete ophthalmic examination, including dilated fundus examination, fundus photography, fundus autofluorescence imaging, spectral-domain optical coherence tomography, fluorescein angiography, electroretinography, and electrooculography. A clinical diagnosis of autosomal recessive bestrophinopathy was established based on ocular examination and multimodal retinal imaging. Subsequently, clinical exome sequencing consisting of a panel of 6670 genes was carried out to confirm the diagnosis and assess genetic alterations in the protein-coding region of the genome of the patients. The identified mutations were tested in the two affected siblings and one of their parents. RESULTS: Two siblings (a 17-year-old female and a 15-year-old male) presented with reduced visual acuity and bilaterally symmetrical subretinal deposits of hyperautofluorescent materials in the posterior pole, which showed staining in the late phase of fluorescein angiogram. Spectral-domain optical coherence tomography demonstrated hyperreflective subretinal deposits and subretinal fluid accumulation. Both patients shared two mutations in the protein-coding region of the BEST1 gene, c.103G > A, p.(Glu35Lys) and c.313C > A, p.(Arg105Ser) (a novel disease-causing mutation). Sanger sequencing confirmed that the unaffected mother of the proband was carrying p.(Glu35Lys) variant in a heterozygous state. CONCLUSIONS: We have identified and described the phenotype of a novel disease-causing mutation NM_004183.4:c.313C > A, p.(Arg105Ser) in a heterozygous state along with a previously reported mutation NM_004183.4:c.103G > A, p.(Glu35Lys) of the BEST1 gene in two related patients with autosomal recessive bestrophinopathy.

Bilateral serous retinal detachment: an unusual complication of HELLP syndrome.

A 23-year-old primigravida presented to the emergency department with reports of headache. On examination, her blood pressure was found to be 190/140 mm Hg. Her laboratory results were notable for proteinuria, deranged liver function and low platelets. She was diagnosed with HELLP syndrome and was delivered via caesarean section. She noticed diminution of vision 2 days after delivery. Fundus examination revealed bilateral serous retinal detachment involving the maculae. She was managed conservatively and had complete recovery of her vision by 3 weeks postpartum.