56 year old presents with red watery eyes. What do you notice ? what is the reason for redness and epiphora? What other ophthalmic manifestations can you see in this patient?
ichthyosis comes from the Ancient Greek, meaning "fish These patients have dry scaly skin. These patients may be associated with cataracts, myopia, ectropion from tight skin leadong to conj redness and epiphora. Finally, they can also have retinitis pigmentosa as part of the Refsum's disease (Genetic defect in breakdown of phytanic acid) with Symptoms include Night blindness progressive tunnel vision,Ataxia ichthyosist vulgaris, Peripheral neuropathynCardiac conduction – arrhythmia/sudden death or KID syndrome (Keratitis-ichthyosis-Deafness) This is a rare AD disorder from mutations in the GJB2 gene. This gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells that are in contact with each other.