Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare and autosomal recessive syndrome. We describe 2 cases of HGPPS which are the first documented in patients of African ancestry from an isolated population in Cape Verde. They demonstrated typical findings on neuro-ophthalmic examination and brain magnetic resonance imaging. One patient had novel heterozymous mutations of the ROB0 3 gene.

Ocular tuberculosis (TB) is considered to be rare, although its incidence has varied widely over time and in different populations. Latent TB is diagnosed when a person is infected with Mycobacterium tuberculosis but does not have active TB. During the last decade, interferon-gamma release assay tests have been developed that allow identification of patients with latent TB infection with better specificity than the tuberculin skin test and can differentiate between infection and prior vaccination. Although rare, tuberculous scleritis should be considered in the differential diagnosis of posterior scleritis. Here we describe a patient with posterior scleritis and severe visual loss associated with latent TB without uveitis, anterior scleritis, keratitis, or any other previous ocular disease history. The patient responded well to a combined treatment of antitubercular therapy and oral corticosteroids.

Pars plana vitrectomy is a safe and effective procedure in patients with epiretinal membrane secondary to toxoplasmic retinochoroiditis, improving both visual acuity and anatomical result on macular optical coherence tomography. The most frequent postoperative complications were posterior capsule opacification and cataract. No recurrences of the disease were recorded.

Statement of Translational relevanceCetuximab is a highly successful anti-EGFR monoclonal antibody used in the treatment of mCRC patients. However, its low rate of effectiveness suggests mechanisms of resistance so far undefined. Our discoveries identify a new mechanism of cetuximab resistance involving the EGFR effector PLC1 and its interaction with SHP2. Therefore, PLC1 IHC scoring in primary CRC samples identify patients resistant to cetuximab, but who simultaneously benefit from combined inhibition of SHP2 and EGFR. Overall, despite of an improved knowledge about the mechanisms of anti-EGFR therapeutic resistance, this work suggests novel clinical strategies for the treatment of mCRC patients.Research.