Optic retinal disease eye diseases hereditary. Medical search. Frequent questions

GenSight Biologics, a french biopharma company, just submitted to EMAMarketing Autorisation Application for LUMEVOQ® Gene Therapy to Treat Vision Loss due to Leber Hereditary Optic Neuropathy (LHON), a rare, mitochondrial genetic disease, caused by mutation in the ND4 mitochondrial gene. (genethon.com)
Paris, France, September 13, 2018, 7.30 am CEST - GenSight Biologics (Euronext: SIGHT, ISIN: FR0013183985, PEA-PME eligible), a biopharma company focused on discovering and developing innovative gene therapies for retinal neurodegenerative diseases and central nervous system disorders, today provided an update on the clinical and regulatory pathways for GS010, its gene therapy product currently in Phase III clinical development for the treatment of Leber Hereditary Optic Neuropathy (LHON). (healthcap.eu)

Our goals were twofold: 1) to characterize the gene expression, protein expression, and activity of key synthesizing and regulating enzymes of energy metabolism in the whole mouse retina, retinal compartments, and/or cells and 2) to provide an integrative analysis of the results related to function. (molvis.org)
Expression of nucleoside diphosphate kinase, mitochondria-associated adenylate kinase, and several mitochondria-associated creatine kinase isozymes was highest in the outer retina, whereas expression of cytosolic adenylate kinase and brain creatine kinase was higher in the cones, horizontal cells, and amacrine cells indicating the diversity of ATP-buffering strategies among retinal neurons. (molvis.org)
Vision loss ultimately results from damage to the retina in the back of the eye. (fightingblindness.ca)
In the structure of the eye retina (nervous tunic of the eyeball) is one of the thinnest layers, being the most complex and highly differentiated tissue. (antiaging-peptides.com)
Position of the retina behind other optic structures, direct ingress of sun rays, peculiarities of the blood supply make it vulnerable to both external (sun rays, light striking, radiation) and internal factors. (antiaging-peptides.com)
Retina is as a rule damaged in case of the following diseases: hypertension, diabetes mellitus, renal insufficiency etc. (antiaging-peptides.com)
One of the first preparations designed at the Institute was a peptide complex isolated from the cattle retina - Visoluten (RU Patent No 1436305 "Method for producing pharmaceutical substance, stimulating retinal functions", 25.02.1993. (antiaging-peptides.com)
Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited multisystem cancer syndrome with a predilection for the central nervous system (CNS) and the retina. (eyecancer.com)
Juxtapapillary retinal capillary hemangiomas are less common, representing about 11% to 15% of cases, and their appearance can vary depending on whether the lesion is endophytic (grow from the retina into the vitreous gel of the eye), exophytic (grow beneath the retina), or sessile (flat). (eyecancer.com)
Therefore adults with a normal retina at age 30 years may have a low risk of developing a retinal capillary hemangioma during the reminder of their lives. (eyecancer.com)
The second edition of OCT and Imaging in Central Nervous System Diseases offers updated state-of-the-art advances using optical coherence tomography (OCT) regrading neuronal loss within the retina. (icebe.es)
OCT allows to study vision from of the retina to the optic tracts. (icebe.es)
The retina is a layer of neural tissue that lines the inner eye and captures visual stimuli. (cshlpress.com)
We reported retina (29%), whole globe (29%), globe appears normal (11%) and optic nerve (9.8%) as the common sites of ocular abnormalities. (hal.science)
Eye movements are mostly used to maintain pictures fixed on the retina and lessen blur, which helps visual acuity. (ophthalmologyconferences.com)
Among the disorders discussed are symptoms of local, basic, and hereditary infections that affect the retina and glassy. (ophthalmologyconferences.com)
We prevent and treat retina diseases. (inof.es)
The retina is the back layer of the eye and is made up of cells that are sensitive to light. (inof.es)
Regular check-ups can prevent the development of diseases related to the retina, or can stop them getting worse. (inof.es)
Retinal detachments with different causes, although they are most commonly started by a tear or rupture of the retina. (inof.es)
For wet AMD, there are certain drugs that can be injected into the eye, removing the fluid build-up in the retina and preventing it from coming back, allowing vision to stabilise and improve. (inof.es)
hereditary diseases: retinitis pigmentosa, angioid streaks of the retina, etc. (who.int)
This image depicted what is known as a fundoscopic view of the retina, or the back of the right eye. (cdc.gov)

This publication is dedicated to the application of a complex of peptide bioregulators being highly effective in treatment of different retinal diseases (diabetic retinopathy, pigment retinitis, age-related macular degeneration etc. (antiaging-peptides.com)
Among the most frequent retinal diseases there are age-related macular degeneration, hereditary retinal degenerations (including retinitis pigmentosa), complicated myopia, diabetic retinopathy. (antiaging-peptides.com)

LCA should not be confused with Leber's hereditary optic neuropathy (LHON), which is a distinct eye disease leading to visual impairment. (institut-vision.org)
All subjects, who were affected by LHON caused by a mutated ND4 mitochondrial gene, were treated with an intravitreal injection of LUMEVOQ ® in one eye and with sham injection in the other. (biospace.com)
GenSight Biologics released new preliminary findings from a Phase 1/2 clinical trial assessing the safety and tolerability of the company's lead investigational gene therapy, GS010 , in patients with Leber's hereditary optic neuropathy (LHON), a maternally inherited mitochondrial disease causing irreversible vision loss. (mitochondrialdiseasenews.com)
These preliminary data at 48 weeks give significant hope to patients suffering from LHON, a very severe disease with no existing curative treatment," Dr. Catherine Vignal, a study investigator and head of the Department of Ophthalmology at the Rothschild Foundation Hospital in Paris, said in a press release . (mitochondrialdiseasenews.com)
At 48 weeks after treatment, LHON patients who had the disease for less than two years showed a gain of +30 letters in the treated eye, and a gain of +13 letters in the untreated eye. (mitochondrialdiseasenews.com)
Those Phase 3 studies (called RESCUE in Europe, Reverse in the U.S.), now recruiting patients, will evaluate the efficacy of GS010 in LHON patients with an ND4 mutation and disease onset of less than one year. (mitochondrialdiseasenews.com)
LHON, a mitochondria inherited disease, is characterized by degeneration of retinal ganglion cells and their axons, leading to an acute or subacute loss of central vision. (mitochondrialdiseasenews.com)
The improvement of visual acuity in sham-treated eyes was unexpected based on the natural history of LHON, for which partial spontaneous recovery is reported in only 8 to 22% of patients with the G11778 ND4 mutation (Lam et al. (gensight-biologics.com)

Multiple congenital degenerative disorders , such as retinitis pigmentosa or Stargardt disease. (inof.es)
Unfortunately, some retinal diseases cannot be cured (such as retinitis pigmentosa), although future treatments are being investigated. (inof.es)

Optic atrophy typically develops later and may appear mild. (wikipedia.org)
In later stages the optic atrophy can become severe, which indicates less opportunity for recovery. (wikipedia.org)
One of three patients had cataracts and another had mild optic atrophy. (arizona.edu)
Autosomal dominant optic atrophy and cataract is an eye disorder that is characterized by impaired vision. (medlineplus.gov)
Several abnormalities contribute to impaired vision in people with autosomal dominant optic atrophy and cataract. (medlineplus.gov)
Atrophy of these nerves causes an abnormally pale appearance (pallor) of the optic nerves, which can be seen only during an eye examination. (medlineplus.gov)
Some people with autosomal dominant optic atrophy and cataract develop disturbances in the function of other nerves (neuropathy) besides the optic nerves. (medlineplus.gov)
Autosomal dominant optic atrophy and cataract is one form of autosomal dominant optic atrophy, a group of conditions that are estimated to affect 1 in 30,000 people worldwide, and approximately 1 in 10,000 people in Denmark. (medlineplus.gov)
A form of optic atrophy called optic atrophy type 1 accounts for most cases, while autosomal dominant optic atrophy and cataract is thought to represent only a few percent of autosomal dominant optic atrophy cases. (medlineplus.gov)
Autosomal dominant optic atrophy and cataract is caused by mutations in a gene called OPA3 . (medlineplus.gov)
form the optic nerves, so when retinal ganglion cells die, the optic nerves atrophy and cannot transmit visual information to the brain. (medlineplus.gov)
It is likely that nerve cells in other parts of the body are similarly affected by dysfunctional mitochondria, resulting in the signs and symptoms of neuropathy in individuals with autosomal dominant optic atrophy and cataract. (medlineplus.gov)
It is unclear how OPA3 gene mutations lead to cataracts and other eye problems that can occur in autosomal dominant optic atrophy and cataracts. (medlineplus.gov)
The fundus appearance is varaible ranging from normal in the early stages, with only subtle temporal optic nerve pallor, macular pigment migration and atrophy or a bull's-eye maculopathy, to peripheral retinal pigment epithelium atrophy, intra retinal pigmentation migration, arteriolar attenuation, and optic disc pallor as disease progresses. (orpha.net)
Fundus examination can be normal at the early stages with only subtle temporal optic disc pallor or may show macular pigment migrations and atrophy or a bull's-eye maculopathy. (orpha.net)
Late stage findings include peripheral retinal pigment epithelium atrophy, intraretinal pigment migration, arteriolar attenuation, and optic disc pallor. (orpha.net)
Night blindness is the major ocular feature and at least some have optic atrophy similar to the adult form. (arizona.edu)
Dry AMD: Areas of chorioretinal atrophy and alteration of the retinal pigment epithelium in the macula. (inof.es)

The generalized, common presentation for this broad and inclusive group of diseases is painless, bilateral loss of visual acuity and pallor of the optic disc accompanied with varying degrees of dyschromatopsia and central/cecocentral scatomas. (wikipedia.org)
When RESTORE subjects enrolled in the study 2 years after the one-time injection, they had already experienced clinically meaningful improvements relative to the lowest point (the "nadir") of their best-corrected visual acuity (BCVA): +18.8 ETDRS letters equivalent* in their LUMEVOQ ® -treated eyes and +17.3 letters equivalent in their sham-treated eyes. (biospace.com)
In RESCUE, mean best-corrected visual acuity (BCVA) of GS010-treated eyes and sham-treated eyes evolved with similar trajectories, worsening to a low point before showing an improvement at Week 48. (businesswire.com)
The primary efficacy endpoint, defined as a +15-letter difference in visual acuity improvement for GS010-treated eyes compared to sham-treated eyes at 48 weeks, was not met. (businesswire.com)
Subject responder analysis showed that in 24% of subjects, the change from baseline of high-contrast visual acuity in GS010-treated eyes was at least 0.3 LogMAR (15 ETDRS letters) better than in sham-treated eyes. (businesswire.com)
No significant change in visual acuity, however, was reported in those with disease onset of more than two years (on average, trial participants had the disease for six years). (mitochondrialdiseasenews.com)
Due to this improvement in untreated eyes, the trial did not meet its primary endpoint, defined as a difference of improvement in visual acuity in GS010-treated eyes compared to sham-treated eyes at 48 weeks. (gensight-biologics.com)
The ophthalmological changes at early stages of the disease may not impair visual acuity. (scielo.br)
The visual acuity of the better eye with the best possible correction is used when assigning an athlete to their starting class. (savir-center.com)
Subjects experienced an unexpected bilateral improvement - in both GS010-treated eyes as well as sham-treated eyes - in Best Corrected Visual Acuity (BCVA), as measured with the ETDRS chart at 48 weeks post-injection. (healthcap.eu)
Visual evoked potentials may be abnormal even when visual acuity is normal and when MRI of the optic nerve reveals no abnormalities. (medscape.com)

Leber's congenital amaurosis (LCA) is a rare retinal dystrophy that severely affects vision in early life. (institut-vision.org)
Retinal dystrophy and congenital glaucoma as major causes of vision loss in students attending two institutions for the visually disabled in Tunis city, Tunisia. (hal.science)
Retinal dystrophy (22.7%) and congenital glaucoma (22.7%) were the most reported ocular diseases. (hal.science)
Retinal dystrophy and congenital glaucoma were the most common eye diseases. (hal.science)

In the clinical 2 practice this preparation turned out to be highly effective in the treatment of the aftereffects of retinal veins thrombosis, glaucoma, haemorrhagic retinopathies, retinal sun and laser burns and many other diseases. (antiaging-peptides.com)
In late stages they may cause massive exudation and retinal detachment, uveitis (inflammation), glaucoma and phthisis (shrinking of the eye). (eyecancer.com)

The three most common neuro-ophthalmic abnormalities seen in mitochondrial disorders are bilateral optic neuropathy, ophthalmoplegia with ptosis, and pigmentary retinopathy. (wikipedia.org)
Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al. (nih.gov)
Persons not treated for persistent CSF abnormalities are at risk of developing clinically apparent disease and are hereafter referred to as having contracted neurosyphilis. (medscape.com)

Studies have been conducted both on animals with modeled innate retinal degeneration, and on those with induced lesions (including laser ones). (antiaging-peptides.com)
A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. (orpha.net)
Therefore, the detection of central retinal degeneration requires thorough fundus examination. (scielo.br)

Mitohondrial optic neuropathies are a heterogenous group of disorders that present with visual disturbances resultant from mitochondrial dysfunction within the anatomy of the Retinal Ganglion Cells (RGC), optic nerve, optic chiasm, and optic tract. (wikipedia.org)
Detailed information on the OCT imaging and interpretation is provided for the evaluation of disease progression in numerous neurodegenerative disorders and as a biological marker of neuroaxonal injury. (icebe.es)
Differential diagnosis includes other hereditary cone disorders (including achromatopsia and allied cone dysfunction syndromes, cone dystrophy and Stargardt disease) and the rod-cone dystrophy, also known asretinitis pigmentosa, which is distinguished by the sequence of photoreceptor involvement (rod photoreceptors followed by cone photoreceptors). (orpha.net)
This group includes lysosomal storage disorders, various mitochondrial diseases, other neurometabolic disorders, and several other miscellaneous disorders. (medscape.com)

One would not expect to find an afferent pupillary defect because optic neuropathies are often bilateral and symmetric. (wikipedia.org)
5 years after treatment, the bilateral improvement from nadir was sustained, with LUMEVOQ ® -treated eyes achieving a mean improvement against nadir of +22.0 letters equivalent and sham-treated eyes demonstrating a mean improvement of +19.5 letters equivalent. (biospace.com)
Retinal capillary hemangioma usually manifests as a solitary tumor, but approximately one-third of patients have multiple retinal hemangiomas, and up to half of patients have bilateral involvement. (eyecancer.com)
The syndrome is characterized by the presence of bilateral retinal flecks, similar to the findings in Stargardt disease and fundus flavimaculatus. (scielo.br)

Fighting Blindness Canada (FBC) has helped make September, Inherited Retinal Disease (IRD) Awareness Month! (fightingblindness.ca)
Join us to raise awareness of genetic eye diseases that lead to vision loss or blindness. (fightingblindness.ca)
An inherited retinal disease (IRD) is a condition caused by a specific genetic mutation or combination of genetic mutations that lead to vision loss or blindness. (fightingblindness.ca)
Usually a prognosis for a disease in these patients is unfavorable (gradual and progressive decrease in the visual functions up to blindness). (antiaging-peptides.com)
The major causes of blindness vary widely from region to region, being largely determined by socioeconomic development and the availability of primary health care and eye services. (who.int)
When a visually impaired person reaches adulthood at the age of 18, according to German reimbursement codes, they are only entitled to reimbursement for visual aid devices (e.g., reading devices) if they suffer from a visual impairment or from blindness in both eyes that corresponds to level 1 of the classification recommended by the World Health Organization (WHO). (savir-center.com)

Initially, the optic nerve head may appear normal, with disc pallor months later. (medscape.com)

Vision loss with negative scotoma may be seen with amaurosis fugax or retinal transient ischemic attack. (medscape.com)

Optic neuropathies that are acquired can be the result of several processes. (wikipedia.org)
citation needed] A possible synergism between genetic and acquired mitochondrial optic neuropathies has been suggested and there are only a few case reports to support this phenomenon, requiring further research and demonstration of evidence to corroborate these findings Nutritional deficiency may be the cause of a genuine optic neuropathy, sometimes associated with involvement of the peripheral nervous system, called peripheral neuropathy. (wikipedia.org)
citation needed] Again, the pathophysiological mechanisms involved in nutritional optic neuropathies is common to all mitochondrial optic neuropathies: it affects biochemical pathways involved in cell energetic production, correction of oxidative stress and quenching of free radicals. (wikipedia.org)

The mean age at diagnosis of retinal capillary hemangioma in VHL disease is approximately 25 years, and most patients present between the ages of 10 and 40 years. (eyecancer.com)
The fundus findings of retinal capillary hemangioma are usually typical, and diagnosis can be made based on ophthalmoscopic examination. (eyecancer.com)
The diagnosis might be confused with retinal macroaneurysm or adult Coats disease when severe exudation exists. (eyecancer.com)
Similar to the first edition, this book is an excellent and richly illustrated reference for diagnosis of many retinal diseases and monitoring of surgical and medical treatment. (icebe.es)
Patients with Paget disease tend to be older at the time of diagnosis with a mean age of 67 years. (medscape.com)

At Week 48, change from baseline for GS010-treated eyes was -19 ETDRS letters equivalent, while that for sham-treated eyes -20 ETDRS letters equivalent. (businesswire.com)
These figures incorporate a recovery from the nadir of vision loss for drug- and sham-treated eyes: mean improvement over the nadir of vision loss was +13 ETDRS letters equivalent in GS010-treated eyes and +11 ETDRS letters equivalent in sham-treated eyes. (businesswire.com)
Planned analysis of other visual functions and anatomic measures showed results broadly consistent with the direction of BCVA evolution: similar trajectories for GS010-treated and sham-treated eyes with the difference in change from baseline not being statistically significant at Week 48. (businesswire.com)
The difference between GS010-treated and sham-treated eyes in change from baseline of temporal retinal nerve fiber layer missed statistical significance (p=0.0513). (businesswire.com)
Another subject responder analysis showed that in 24% of subjects, the change from baseline of low-contrast acuity (measured on the Pelli-Robson scale) in GS010-treated eyes was at least 0.3 LogCS better than in sham-treated eyes. (businesswire.com)
The secondary endpoint of change in thickness of the temporal quadrant and papillomacular bundle of the retinal nerve fiber layer from baseline to week 48 demonstrated a large statistically significant difference (p = 0.0359) between all GS010-treated eyes and all sham-treated eyes, with untreated eyes showing a loss of 3.4 μm while treated eyes showed a limited loss of 0.6 μm. (gensight-biologics.com)
Because of the unforeseen improvement seen in sham-treated eyes, the trial did not meet its primary efficacy endpoint. (healthcap.eu)

Vision loss with pain upon eye movement in young patients should prompt consideration of optic neuritis. (medscape.com)
Typical symptoms of relapses may be referable to demyelinating pathology involving the optic nerves (e.g. optic neuritis), brainstem (e.g. internuclear ophthalmoplegia) or spinal cord (e.g. partial myelitis), although non-specific symptoms referable to the cerebral hemispheres or other brain regions can also occur (Katz Sand and Lublin, 2013). (medscape.com)
Optic neuritis (ON) is a demyelinating inflammation of the optic nerve that often occurs in association with multiple sclerosis (MS) and, much less commonly, neuromyelitis optica (NMO). (medscape.com)
A case of acute optic neuritis. (medscape.com)

Most often, they present as a non-specific retrobulbar optic neuropathy. (wikipedia.org)
Months of depletion are usually necessary to deplete body stores of most nutrients and a nutritional optic neuropathy may be present in a patient with or without obvious evidence of under-nutrition. (wikipedia.org)
The optic neuropathy associated with pernicious anemia and vitamin B12 deficiency can be seen amongst individuals who obtain adequate caloric input from foods low in nutritional and micronutrient density (see Food desert). (wikipedia.org)
Arteritic Anterior Ischemic Optic Neuropathy. (slackbooks.com)
Compressive Optic Neuropathy. (slackbooks.com)
This preliminary data is very encouraging and validates the design of the two Phase III studies currently ongoing in the US and Europe on GS010 for the treatment of Leber's Hereditary Optic Neuropathy" said Bernard Gilly, CEO and co-founder of GenSight. (mitochondrialdiseasenews.com)

Because this grouping of diseases is of heterogenic origin, the causes can be singular or additive consequences of genetic, toxic, or nutritional stress. (wikipedia.org)
Retinal damage is caused by specific genetic mutations that affect how retinal cells work and survive. (fightingblindness.ca)
This volume provides an update on retinal diseases, describing the genetic and pathophysiological basis of the diseases and advances in strategies to treat them. (cshlpress.com)
A framework for identifying targets for individualized therapy in genetic disease. (cdc.gov)

Retinal axons in the retinal nerve fiber layer (RNFL) are non-myelinated until they penetrate the lamina cribrosa. (icebe.es)

Dr. Grant is an ophthalmologist studying the use of stem cells for vascular repair in retinal diseases at the University of Alabama at Birmingham. (nih.gov)
Retinal capillary hemangiomas are usually orange red, circumscribed, round, vascular tumors supplied by a pair of dilated and tortuous feeder vessels. (eyecancer.com)
Ischemia, often via mechanical obstruction, can affect any aspect of the visual system and commonly occurs among individuals with atherosclerotic disease, such as coronary artery disease and peripheral vascular disease or atrial fibrillation. (medscape.com)
Patients with ICA disease often have other systemic evidence of atherosclerosis, such as coronary and peripheral vascular disease. (medscape.com)
Vascular involvement due to thrombosis or embolism, which can affect either a branch of the veins in the eye, or all of them. (inof.es)

Retinal capillary "Vvon Hippel" hemangioma is one of the most common and often the earliest manifestations of VHL disease and, therefore, ophthalmologists are frequently involved in the care of patients with this disease. (eyecancer.com)
The incidence of VHL disease is approximately one in 40,000 live births and it is estimated that there are approximately 7,000 patients with VHL disease in the United States. (eyecancer.com)
The wide range of manifestations observed in patients with mitochondrial disease results from varying fractions of abnormal mtDNA molecules in different cells and tissues, a phenomenon termed heteroplasmy. (jci.org)
Using its gene therapy-based approach, GenSight Biologics' product candidates are designed to be administered in a single treatment to the eye by intravitreal injection to offer patients a sustainable functional visual recovery. (genethon.com)
Topline results further highlight the favorable safety and tolerability profile of GS010, and demonstrate a clinically meaningful improvement of +11 ETDRS letters (-0.218 LogMAR) in treated eyes at 48 weeks as compared to baseline in all 37 patients. (gensight-biologics.com)
Retinal tears can be caused by blows to at-risk patients, such as those with high degree myopia. (inof.es)
Patients with sickle cell disease tend to be in their second and third decades with a mean age of 41.7 years. (medscape.com)
Angioid streaks in patients with no systemic disease or with rare etiologies tend to present late in life with a mean age of 65.7 years. (medscape.com)
The streaks intercommunicate in a ringlike fashion around the optic disc in 27% of cases and radiate outward in a tapering fashion from the peripapillary area in 73% of patients. (medscape.com)
From the abstract: 'Rare and ultra-rare diseases have been central to the field of gene therapy since its earliest stage, and we are now witnessing more and more effective treatments entering the clinical realm for patients in need. (cdc.gov)
However, despite promising results across a range of rare diseases, transformative gene therapies may not be available and accessible to patients for non-medical reasons. (cdc.gov)
Approximately 15% of patients follow a primary progressive or progressive relapsing course from disease onset, usually characterized by symptoms of progressive myelopathy (gait instability, spasticity, bladder symptoms) and cognitive impairment. (medscape.com)
Classically, patients with ON are young, often are female, and have subacute vision loss associated with pain on eye movement. (medscape.com)

Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of diseases involving weakness and spasticity of the lower extremities combined with additional neurological or non-neurological manifestations ( 1 1 Finsterer J, Loscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. (scielo.br)
however, only the 2 subtypes involving mutations of SPG11 and SPG15 are associated with Kjellin's syndrome ( 1 1 Finsterer J, Loscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. (scielo.br)

Secondary effects (from the retinal angioma) leading to visual loss, such as intraretinal and subretinal exudation, are often limited to the vicinity of the hemangioma but can be remote, often producing a macular star of exudates. (eyecancer.com)
In 1889, Doyne first described angioid streaks in a patient with retinal hemorrhages secondary to trauma. (medscape.com)

Individuals with this syndrome present with macular changes, most often described as fundus flavimaculatus or Stargardt disease-like, particularly on the basis of fluorescein angiography findings ( 3 3 Puech B, Lacour A, Stevanin G, Sautiere BG, Devos D, Depienne C, et al. (scielo.br)

It contains data on clinical observations, supported by the results of retinal electrophysiological tests and computer perimetry results. (antiaging-peptides.com)
Experimental and clinical studies revealed its high efficiency in the treatment and restoration of retinal functions if compared to the known methods. (antiaging-peptides.com)
Numerous studies were conducted in collaboration with the leading medical organizations, such as: S.M. Kirov Military Medical Academy, the Helmholtz Moscow Research Institute of Eye Diseases, State Research Institute of Eye Diseases of the Russian Academy of Medical Sciences, Main Military Clinical Hospital named after N.N. Burdenko of the Ministry of Defence of the Russian Federation etc. (antiaging-peptides.com)
What if there was a book that covers clinical information, history, sports, and the arts-and all are related to eye disease? (slackbooks.com)
This study discusses the clinical and surgical treatment of retinal and vitreoretinal infection . (ophthalmologyconferences.com)

Variants within the high copy number mitochondrial genome (mtDNA) can disrupt organelle function and lead to severe multisystem disease. (jci.org)
TBVL almost always is associated with severe occlusive disease of the internal carotid artery (ICA), aortic arch, or vertebral circulation with occipital lobe ischemia. (medscape.com)
All 211 students were examined according to the modified WHO/PBL eye examination record: 70.4% were blind, 24.3% had severe visual loss and 5.3% were visually impaired. (who.int)
The new drug, Roctavian, could save people with the severe form of the disease from a lifetime of frequent injections. (cdc.gov)

This eye abnormality can develop anytime but typically appears in childhood. (medlineplus.gov)

Branch Retinal Artery Occlusion. (slackbooks.com)
AMD), occlusion of retinal vessels (ORV), etc. (who.int)

Angioid streaks usually present as linear gray or dark red lines with irregular serrated edges lying beneath normal retinal blood vessels. (medscape.com)

Glial proliferation can lead to tractional retinal detachment and macular pucker. (eyecancer.com)

the difference in the thickness of the temporal quadrant of the retinal nerve fiber layer at Week 48 was statistically significant. (healthcap.eu)

In general, monocular vision loss indicates an ocular problem or a problem anterior to the optic chiasm, and the vision loss may respect the horizontal midline. (medscape.com)

This state-of-the-art instrument detects microscopic retinal alterations even before the patient starts to show symptoms. (inof.es)

Your eyes are full of a gel called vitreous . (inof.es)

The curve starts at 12 months after onset when 92.7% of eyes in RESCUE and REVERSE had received treatment, either with LUMEVOQ® or a sham injection. (biospace.com)
RESCUE enrolled subjects up to six months from onset of visual loss, but otherwise identical disease and demographics enrollment criteria as those in REVERSE. (healthcap.eu)

The immunoreactivity levels of well-characterized antibodies, for all major retinal cells and their compartments, were obtained using our established semiquantitative confocal and imaging techniques. (molvis.org)
We profiled the transcriptome, chromatin accessibility state, and heteroplasmy in cells from the eyes of a patient with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and from healthy control donors. (jci.org)
When you want to use some Disease-specific iPS cells, please e-mail to the following address. (riken.jp)
The therapeutic approach involves restoring the activity of the failed mitochondrial gene in the retinal cells by administering to the patient's eye an Adeno Associated Viral (AAV) vector carrying a normal copy of the mutated gene. (genethon.com)
The cells turn light into nerve impulses, which travel through the optic nerve to the brain, where they are interpreted as images. (inof.es)
Neurosyphilis, quite directly, is defined as a CSF WBC count of 20 cells/µL or greater or a reactive CSF Venereal Disease Research Laboratory (VDRL) test result. (medscape.com)

Ataxia and features of motor neuron disease are evident early. (arizona.edu)

The data show significant improvement for those in earlier stages of the disease. (mitochondrialdiseasenews.com)

Proptosis can also damage the optic nerve resulting in irreversible vision loss even if the globe is salvaged. (pethealthnetwork.com)

The main ophthalmic finding in VHL is retinal capillary hemangioma, which is a benign hamartoma. (eyecancer.com)
If a patient has a solitary retinal capillary hemangioma, they do not necessarily have VHL disease. (eyecancer.com)
The probability of developing a retinal capillary hemangiomas increases progressively with age. (eyecancer.com)
The natural course of retinal capillary hemangiomas is variable (progression, stability or spontaneous regression). (eyecancer.com)
After retinal capillary hemangioma, the most frequently affected organ systems are the CNS, kidneys and adrenal glands, many of them occurring years after the initial presentation with retinal capillary hemangiomas. (eyecancer.com)

Note that the retinal vessels appeared to be emanating from the far right, from an area known as the optic disc. (cdc.gov)

Ocular Proptosis: Why is My Dog's Eye Bulging! (pethealthnetwork.com)
Overall, 50.5% (87/172) of ocular diseases were potentially treatable or preventable. (hal.science)
The lines of force within the eye resulting from the pull of intrinsic and extrinsic ocular muscles on the relatively fixed site of the optic nerve have been studied. (medscape.com)

Gene therapies for rare diseases are under threat. (cdc.gov)
Concern is mounting that other gene therapies for rare diseases will meet a similar fate, as might upcoming treatments that rely on the related technique of genome editing, which makes targeted DNA changes. (cdc.gov)
Realising the potential of gene therapies for rare and ultra-rare inherited diseases. (cdc.gov)
Here we highlight some of the challenges of delivering gene therapies in rare diseases and discuss innovative solutions being proposed by the gene therapy community. (cdc.gov)

Most people with this disorder also have clouding of the lenses of the eyes (cataracts). (medlineplus.gov)
There are many types of cataracts that form on the eye, with different levels of density. (eyecare-specialties.com)

A. 1.5 Tesla, contrast-enhanced spin echo T1-weighted, fat-suppressed coronal MRI through the orbits shows enlargement and contrast enhancement of the left optic nerve in the retrobulbar portion (arrow). (medscape.com)

Stargardt's Disease (Fundus Flavimaculata). (slackbooks.com)

As soon as a patient notices they have a visual impairment they should see an ophthalmologist (eye doctor) to identify the cause of the visual impairment and to discuss options for how to treat it. (savir-center.com)

In this review of what is probably the most heterogeneous group of human diseases (the mitochondrial diseases including encephalomyopathies), the author tries to offer the clinician a rational diagnostic framework. (medlink.com)

Contents Dedication Acknowledgments About the Author Preface JANUARY Retinal Tears and Holes. (slackbooks.com)

The optic disc may appear mildly hyperemic with small splinter hemorrhages on or around the disc, or may appear nearly normal. (wikipedia.org)
Retinal or vitreal hemorrhages are rarely observed, occurring in fewer than 3% of cases. (eyecancer.com)

birth defects: coloboma of choroid or optic nerve disc, etc. (who.int)

Anatomy45

Organisms6

Diseases83

Chemicals and Drugs23

Analytical, Diagnostic and Therapeutic Techniques and Equipment52

Psychiatry and Psychology4

Phenomena and Processes31

Disciplines and Occupations6

Anthropology, Education, Sociology and Social Phenomena2

Technology, Industry, Agriculture2

Humanities2

Information Science4

Named Groups1

Health Care11

Geographicals3

Leber Hereditary2

Retina23

Macular degeneration2

LHON8

Retinitis2

Atrophy18

Visual acuity11

Congenital4

Glaucoma2

Abnormalities3

Degeneration3

Disorders4

Bilateral4

Blindness6

Pallor1

Amaurosis1

Neuropathies3

Diagnosis5

Sham-treated eyes7

Neuritis4

Neuropathy6

Genetic4

Axons1

Vascular5

Patients13

Autosomal dominant2

Secondary2

Stargardt1

Clinical5

Severe4

Abnormality1

Occlusion2

Angioid streaks1

Detachment1

Temporal quadrant1

Chiasm1

Symptoms1

Vitreous1

Onset2

Cells6

Ataxia1

Stages1

Irreversible vision loss1

Capillary5

Vessels1

Ocular3

Gene therapies4

Cataracts2

Retrobulbar1

Fundus1

Impairment1

Mitochondrial diseases1

Tears1

Hemorrhages2

Coloboma1