Mutations of orthodentricle homeobox 2 (OTX2) in human and mice often cause retinal dystrophy and nyctalopia, suggesting a role of OTX2 in mature retina, in addition to its functions in the development of the eye and retina. In support of this, the number of bipolar cells in Otx2＋/- post-natal mouse retina was found to be significantly lower than normal. Degeneration of the cells becomes greate...

Affected members of a family with autosomal dominant retinitis pigmentosa were found to have a 3 base pair deletion at codon 118 or 119 of the retinal degeneration slow gene. This mutation causes the loss of a highly conserved cysteine residue in the predicted third transmembrane domain of peripherin-rds, a photo-receptor specific structural glycoprotein localised to both rod and cone outer seg...

Birdshot retinochoroidopathy (BSRC) is an uncommon, but well-characterized chronic, bilateral posterior uveitis, which is uniquely associated with the human leukocyte antigen-A29 phenotype. The disease presents predominantly in middle-aged Caucasian females who complain of blurred vision, floaters, photopsias, paracentral scotomas and nyctalopia. While autoimmune mechanisms are thought to play ...

A 21-year-old Caucasian man presented with a complaint of nyctalopia. Visual acuity in both eyes was 20/20 and anterior segment biomicroscopy results were unremarkable. Fundoscopy revealed peripheral avascular zones, minimal peripheral retinal exudation from the retinal vessels, peripheral retinal telangiectasias and anastomosis in both eyes, and retinal vascular dragging toward the temporal pe...

BACKGROUND To describe the spectral domain optical coherence tomography (SD-OCT) findings of a patient who developed pigmentary retinopathy following high-dose deferoxamine administration. CASE PRESENTATION A 34-year-old man with thalassemia major complained of nyctalopia and decreased vision following high-dose intravenous deferoxamine to treat systemic iron overload. Fundus examination reve...

Retinitis pigmentosa (RP) is a progressive inherited retinal disease characterized by nyctalopia, visual field constriction, and reduced full-field electroretinograms. The progressive loss of photoreceptors leads to vision loss at the end stage of RP. The prevalence of RP is approximately 1/4,000. Since it is one of the major causes of visual impairment worldwide, morphological and functional a...

Dear Sir, W e write to present a rare case of night blindness caused by vitamin A deficiency secondary to resected adenocarcinoma of the pancreas. To our knowledge this is the first reported case of this association. A 62 year-old man presented to the eye clinic with a 12mo history of worsening nyctalopia and colour perception. Three and a half years previously, he underwent a Whipple's procedu...

Recent clinical and experimental studies suggest that zinc deficiency may play an important role in the pathogenesis of (1) acrodermatitis enteropathica, and in certain cases of (2) hypogonadal dwarfism, (3) congenital malformations, (4) hypogeusia and hyposmia, (5) nyctalopia and (6) impaired wound healing. Distrubances of zinc metabolism also occur in a broad spectrum of other clinical disord...