MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension.

Predicting the therapeutic response to ocular hypotensive drugs is crucial for the clinical treatment and management of glaucoma. Our aim was to identify a possible genetic contribution to the response to current pharmacological treatments of choice in a white Mediterranean population with primary open-angle glaucoma (POAG) or ocular hypertension (OH). We conducted a prospective, controlled, randomized, partial crossover study that included 151 patients of both genders, aged 18 years and older, diagnosed with and requiring pharmacological treatment for POAG or OH in one or both eyes.

A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype.

Introduction: In this study we examined a family with electrophysiological findings of hereditary neuropathy with liability to pressure palsies (HNPP) and a mild clinical presentation.

Methods: Four members of a family were referred for diagnosis of HNPP. Electrophysiological studies included motor and sensory nerve conduction studies in the upper and lower extremities.

Charcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene.

Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited sensory and motor neuropathies. Mutations in the gene that encodes for myelin protein zero (MPZ) can produce different phenotypes: CMT1 (with low conduction velocities), CMT2 (less frequent and with unaffected conduction velocities), and CMTID (with intermediate conduction velocities). We report a study of seven patients from a four-generation family.