To cite: Espírito Santo R, Moldovan O, Costa P, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2016-215872 DESCRIPTION A female neonate was evaluated due to limb oedema. Her father and three older siblings were healthy. Her mother had a subclinical autoimmune hypothyroidism. Gestation was uneventful, except for an abnormal maternal serum screening for ane...

FOXC2 mutations cause the lymphatic/ocular disorder Lymphedema-Distichiasis (LD), and Foxc2 haploinsufficient mice mimic this disorder. To determine if FOXC2 overexpression might also cause lymphatic and/or ocular abnormalities, we performed dynamic lymphatic imaging (Evans blue dye), ocular tissue examination, and metabolic profiles in mice: transgenic for FOXC2 with an adipocyte (aP2) promote...

purpose : to evaluate the incidence of leber’s congenital amaurosis (lca) in low vision children referred to electrophysiology ward of farabi eye hospital , and review the clinical features of disease and electroretiongraphy (erg) test values to confirm the diagnosis and severity of the disease in iran . design: prospective observational case series methods : two-hundred and fifteen cases of lo...

A 2-year-old male castrated Domestic Short-haired cat presented to the Ophthalmology Service at the Matthew J. Ryan Veterinary Hospital at the University of Pennsylvania for evaluation of chronic bilateral ocular discharge and blepharospasm. Initial ophthalmic examination revealed severe conjunctivitis and keratitis and the presence of upper eyelid distichiae bilaterally. Initial therapy for su...

The FOX family of transcription factor genes is an evolutionary conserved, yet functionally diverse class of transcription factors that are important for regulation of energy homeostasis, development and oncogenesis. The proteins encoded by FOX genes are characterized by a conserved DNA-binding domain known as the forkhead domain (FHD). To date, disease-causing mutations have been identified in...