Diagnosis and classification of optic neuritis.

There is no consensus regarding the classification of optic neuritis, and precise diagnostic criteria are not available. This reality means that the diagnosis of disorders that have optic neuritis as the first manifestation can be challenging. Accurate diagnosis of optic neuritis at presentation can facilitate the timely treatment of individuals with multiple sclerosis, neuromyelitis optica spectrum disorder, or myelin oligodendrocyte glycoprotein antibody-associated disease.

Novel Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.

Certain combinations of common variants in exon 3 of and , the genes encoding the apo-protein of the long- and middle-wavelength sensitive cone photoreceptor visual pigments in humans, induce splicing defects and have been associated with dyschromatopsia and cone dysfunction syndromes. Here we report the identification of a novel exon 3 haplotype, G-C-G-A-T-T-G-G (referring to nucleotide variants at cDNA positions c.453, c.

Evaluation of the Blinq Vision Screener in the Detection of Amblyopia and Strabismus in Children.

Purpose: Amblyopia is a major health problem with an estimated 2% to 4% of the population affected. Screening combined with corrective measures, such as correction of refractive error and occlusion of the dominant eye, could reduce this prevalence. A new pediatric vision scanner, the blinq (Rebion, Boston, MA), studies the foveolar quality of fixation of each eye during binocular viewing.

Post-surgical left oculomotor nerve neuromyotonia: Cause or coincidence?

Ocular neuromyotonia (ONM) is characterized by episodes of binocular diplopia usually triggered by an eye movement requiring contraction of the affected extraocular muscle. It consists of an involuntary, sometimes painful contraction of one or more extraocular muscles. It is most often secondary to radiotherapy of the para-sellar region, although other aetiologies have been reported.

Three cases of molecularly confirmed Knobloch syndrome.

Knobloch syndrome (OMIM 267750) is a rare autosomal recessive disorder due to genetic defects in the gene. The triad of high myopia, occipital defect, vitreoretinal degeneration has been described as pathognomonic for this condition. Patients with Knobloch syndrome have also extraocular problems as brain and kidney malformations.

Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child.

Leber hereditary optic neuropathy is a well-known mitochondrial disorder that leads to bilateral subacute visual failure. Although visual impairment is often the sole clinical feature, additional and severe neurologic abnormalities also have been documented for this disease. We report on a 13-year-old boy who has presented with severe visual failure since early childhood in a context of prematurity.

Neuro-ophthalmological emergencies: which ocular signs or symptoms for which diseases?

There are five possible ocular signs or complaints of a life or sight threatening neuro-ophthalmological condition: diplopia, isolated anisocoria, transient visual loss, severe pain in head or neck (with or without photophobia) and oscillopsia/nystagmus. In this review, the ocular signs and symptoms of neuro-ophthalmological emergencies are described together with their practical work-up and the risks associated with missing the diagnosis. Concerning diplopia, the associated signs pointing to a possible threatening condition are emphasized.

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.

Purpose: Nonsyndromic autosomal recessive optic atrophy (arOA) is extremely rare and its existence was disputed until a locus, optic atrophy 6 (OPA6), was mapped to 8q. Recently, a second locus, OPA7, was found on 11q in several families from North Africa, with one presumably ancestral mutation of transmembrane protein 126A (TMEM126A). Here we report an independently ascertained large consanguineous family of Moroccan descent with three siblings affected with nonsyndromic arOA.

Optic neuropathy, renal failure and pulmonary sarcoidosis in a 50-year-old man: where is the link?

Eye disorders are frequently associated with renal diseases, mostly linked to underlying causes such as hypertension, diabetes or autoimmune diseases. Conversely, advanced uraemic states may also lead to progressive vision impairment. The present report concerns a 50-year-old patient who presented with a bilateral, painless, progressive vision loss, a moderate systemic inflammation and chronic renal failure due to hypertension nephrosclerosis.

Screening for refractive errors in children.

It is well known that refractive anomalies play a prominent role in the genesis of amblyopia. The current aim of early visual screening is to look for these refractive anomalies along with strabismus and media opacities. This update reviews the frequency of refractive anomalies in the preschool-aged population, their amblyogenic potential, and the different methods of refractive screening, including the required equipment, costs, and diagnostic performance.

Congenital stationary night blindness: report of an autosomal recessive family and linkage analysis.

Congenital stationary night blindness (CSNB) is a group of rare, non-progressive conditions of the retina characterized by abnormal rod function causing impaired night vision. Among them, the Schubert-Bornschein subgroup, itself divided into a complete and an incomplete form, is characterized by a specific electrophysiological pattern. Complete, Schubert-Bornschein CSNB is usually transmitted as a monogenic trait, and most familial cases result from mutations of the NYX gene located on the X chromosome.

An unusual cause of visual loss: involvement of bilateral lateral geniculate bodies.

We report the clinical and radiologic features of a 31-year-old woman who suffered incongruous binasal and bitemporal visual field defects and severe sudden visual loss due to hypoperfusion of bilateral lateral geniculate bodies following anaphylactic shock induced by 500 mg amoxicillin per os. Complete neuroophthalmologic examinations were performed regularly for visual acuity, color vision, pupillary reflexes, and visual fields. Additional testing was performed by means of MR imaging of the brain and CSF analysis.