The Optic Nerve at Stake: Update on Environmental Factors Modulating Expression of Leber's Hereditary Optic Neuropathy.

Optic neuropathies are characterized by the degeneration of the optic nerves and represent a considerable individual and societal burden. Notably, Leber's hereditary optic neuropathy (LHON) is a devastating vision disease caused by mitochondrial gene mutations that hinder oxidative phosphorylation and increase oxidative stress, leading to the loss of retinal ganglion neurons and axons. Loss of vision is rapid and severe, predominantly in young adults.

Relationship between paramacular thinning, cerebral vasculopathy, and hematological risk factors in sickle cell disease.

Purpose: To identify risk factors for sickle cell maculopathy due to hematological parameters (especially anemia and hemolysis) or cerebral vasculopathy.

Methods: This retrospective study was conducted at a Referral Center. The follow-up included optical coherent tomographyoptical coherent tomography angiography, neuro-radiological imaging, and a hematological assessment hemoglobin, hemoglobin S level, reticulocytes, mean corpuscular volume, bilirubin, and lactate dehydrogenase).

Case Report: Abnormalities of sperm motility and morphology in a patient with Leber hereditary optic neuropathy: Improvement after idebenone therapy.

Case: We report the sperm characteristics of a male patient who developed, when he was 18 years old, a Leber hereditary optic neuropathy, a hereditary optic neuropathy due to mtDNA mutation as well as variants in the nuclear DNA. At the age of 30 years-old, he complained of infertility lasting for 2 years. Semen analyses showed low motility spermatozoa and a high percentage of morphological or ultrastructural abnormalities.

Mutations Cause Nuclear LHON-like Optic Neuropathy.

Pathological variants in the nuclear malonyl-CoA-acyl carrier protein transacylase () gene, which encodes a mitochondrial protein involved in fatty-acid biogenesis, have been reported in two siblings from China affected by insidious optic nerve degeneration in childhood, leading to blindness in the first decade of life. After analysing 51 families with negative molecular diagnostic tests, from a cohort of 200 families with hereditary optic neuropathy (HON), we identified two novel mutations in a female patient who presented with acute, sudden, bilateral, yet asymmetric, central visual loss at the age of 20. This presentation is consistent with a Leber hereditary optic neuropathy (LHON)-like phenotype, whose existence and association with and has only recently been described.

A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies.

Leber's hereditary optic neuropathy (LHON) is the most common disorder due to mitochondrial DNA mutations and complex I deficiency. It is characterized by an acute vision loss, generally in young adults, with a higher penetrance in males. How complex I dysfunction induces the peculiar LHON clinical presentation remains an unanswered question.

Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy.

Backrground: Evaluation of the efficacy of oral cyclosporine A as a prophylactic agent in preventing second-eye involvement in Leber's hereditary optic neuropathy (LHON) in a prospective, open-label, non-randomized, multicenter pilot study. Only LHON patients aged 18 years or more, with confirmed primary mitochondrial DNA mutations and strictly unilateral optic neuropathy occurring within 6 months prior to enrolment, were included in the study. All these patients, receiving treatment with oral cyclosporine (Neoral®, Novartis) at 2.

Cardiac Disorders in Patients With Leber Hereditary Optic Neuropathy.

Background: Cardiac abnormalities have been described in patients with Leber hereditary optic neuropathy (LHON). Some are life-threatening because of the risk of ventricular fibrillation and sudden death. The purpose of our study was to better characterize the cardiac abnormalities in a large patient cohort with LHON.

International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy.

Leber hereditary optic neuropathy (LHON) is currently estimated as the most frequent mitochondrial disease (1 in 27,000-45,000). Its molecular pathogenesis and natural history is now fairly well understood. LHON also is the first mitochondrial disease for which a treatment has been approved (idebenone-Raxone, Santhera Pharmaceuticals) by the European Medicine Agency, under exceptional circumstances because of the rarity and severity of the disease.

Relevance of Identifying JAG1 Mutations in Patients With Isolated Posterior Embryotoxon.

Purpose: Although posterior embryotoxon (PE) has a high incidence in the general population, clinicians should exclude any sign of glaucoma in its presence. This anatomic abnormality is often referred to as "isolated" when the intraocular pressure is normal. Nevertheless, it may be the only sign of Alagille syndrome (AS) that can be clinically heterogenous, as presented here.

Objective Evaluation of Vergence Disorders and a Research-Based Novel Method for Vergence Rehabilitation.

Purpose: We performed video-oculography to evaluate vergence eye movement abnormalities in students diagnosed clinically with vergence disorders. We tested the efficiency of a novel rehabilitation method and evaluated its benefits with video-oculography cross-correlated with clinical tests and symptomatology.

Methods: A total of 19 students (20-27 years old) underwent ophthalmologic, orthoptic examination, and a vergence test coupled with video-oculography.

Saccade-vergence properties remain more stable over short-time repetition under overlap than under gap task: a preliminary study.

Under natural circumstances, saccade-vergence eye movements are among the most frequently occurring. This study examines the properties of such movements focusing on short-term repetition effects. Are such movements robust over time or are they subject to tiredness? 12 healthy adults performed convergent and divergent combined eye movements either in a gap task (i.

Visual Impairment in Pseudoxanthoma Elasticum: A Survey of 40 Patients.

Background: Pseudoxanthoma elasticum is an inherited disorder of connective tissue characterized, among other symptoms, by impaired vision.

Objective: To evaluate the nature and age of onset of ophthalmologic manifestations in pseudoxanthoma elasticum.

Patients And Methods: Forty consecutive patients affected with pseudoxanthoma elasticum underwent measurements of their refractive error and visual acuity, together with slit-lamp examination.

Benefit of bi-ocular visual stimulation for postural control in children with strabismus.

Vision is important for postural control as is shown by the Romberg quotient (RQ): with eyes closed, postural instability increases relative to eyes open (RQ = 2). Yet while fixating at far distance, postural stability is similar with eyes open and eyes closed (RQ = 1). Postural stability can be better with both eyes viewing than one eye, but such effect is not consistent among healthy subjects.

Differential auditory-oculomotor interactions in patients with right vs. left sided subjective tinnitus: a saccade study.

Subjective tinnitus (ST) is a frequent but poorly understood medical condition. Recent studies demonstrated abnormalities in several types of eye movements (smooth pursuit, optokinetic nystagmus, fixation, and vergence) in ST patients. The present study investigates horizontal and vertical saccades in patients with tinnitus lateralized predominantly to the left or to the right side.

[Decrease in visual acuity: retinal or optic nerve?].

Identify the role of the retina or of the optic nerve as an etiology of visual decease is sometimes difficult and requires eliminating obvious causes, including toxic or inherited ones. These two last causes are responsible for bilateral forms, though sometimes asymmetrical. The existence of an abnormality of the retinal examination and pupillary movement is an important diagnostic argument that must be systematically looked for, as well as the existence of an afferent pupillary defect in unilateral visual deficit.

Postural control in nonamblyopic children with early-onset strabismus.

Purpose: In healthy subjects, the postural stability in orthostatic position is better when fixating at near than at far. Increase in the convergence angle contributes to this effect. Children with strabismus present a deficit in vergence.

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.

Background: Leber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disorder, which in over 90% of cases is due to one of three primary mitochondrial DNA (mtDNA) point mutations (m.11778G>A, m.3460G>A and m.

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal dystrophy. Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. IFT140 is one of the six currently known components of the intraflagellar transport complex A (IFT-A) that regulates retrograde protein transport in ciliated cells.

Medio-lateral postural instability in subjects with tinnitus.

Background: Many patients show modulation of tinnitus by gaze, jaw or neck movements, reflecting abnormal sensorimotor integration, and interaction between various inputs. Postural control is based on multi-sensory integration (visual, vestibular, somatosensory, and oculomotor) and indeed there is now evidence that posture can also be influenced by sound. Perhaps tinnitus influences posture similarly to external sound.