Disease Information for Optic atrophy, hereditary, of Leber

Clinical Manifestations
Signs & Symptoms
Central Vision Loss/Scotoma
Chronic Vision Loss, Persistent
Color vision dimmimg, monocular
Decreasing visual acuity
Decreasing visual acuity in Children
Eye symptoms/signs
Loss of color vision
Pallor/white optic disk
Vision Loss
Visual symptoms
True Vertigo Sign Confirmed
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Population/Pediatrics population
Sex & Age Groups
Population/Child-Infant Only
Diagnostic Test Results
Other Tests & Procedures
TEST/Color vision abnormality
Visual Fields Test Abnormal
Visual fields/Central scotomata
Visual Fields/Central visual field loss
Associated Diseases & Rule outs
Rule Outs
Multiple sclerosis
Optic neuritis
Associated Disease & Complications
Blindness in Children
Congenital Nystagmus
Optic atrophy/hereditary Leber's
Disease Mechanism & Classification
CLASS/Ophthalmology Specialty Population
CLASS/Ophthalmology disorders
CLASS/Eyes/accessory (category)
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Gene mutation Retinoic acid/Retina cells
Pathophysiology/Gene mutation RPE65
PROCESS/Atrophic disorders (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Use/Age/atrophic disorder (category)
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Surgical Procedures or Treatments
SX/Gene Therapy Eye

Leber"s Hereditary Optic Neuropathy (LHON) , also known as Leber"s Optic Atrophy (LOA) , Leber"s Optic Neuropathy (LON) or Leber"s Disease; It is often referred to as just Leber"s; Leber"s Hereditary Optic Neuropathy is a rare condition which can cause loss of central vision; It usually affects men, most commonly in the late twenties or early thirties, but the symptoms can happen at any age, to men or women; Usually Leber"s affects one eye first, so central vision is lost in that eye over a period of a few weeks; One or two months later, the second eye is affected in the same way; The time when someone is losing their eyesight is often called the "acute" period; After a few more weeks, the eyesight stops getting worse; Although that describes the most common pattern for Leber"s, it can also affect someone very suddenly, or can affect them more gradually over a period of years; Leber"s is a genetic condition, that is, it is passed down through the family; Not everyone in a family affected by Leber"s will lose their eyesight; Leber"s Hereditary Optic Neuropathy is linked to a number of genes, all in the DNA of structures called Mitochondria; These provide energy to the cells of the body; We believe that the particular gene changes linked to Leber"s Hereditary Optic Neuropathy lower the amount of energy available to the cells of the optic nerve and retina; These cells are damaged and can even die because of this lack of energy; The damage to the optic nerve and retina is what causes the symptoms of Leber"s;----------[Leber ewebsite 2005]-------------------

Leber Hereditary Optic Neuropathy; Hereditary Optic Neuroretinopathy; Leber"s Disease; Leber"s Optic Atrophy;

Leber"s Optic Neuropathy (LHON); Leber hereditary optic neuropathy (LHON) is a rare inherited disorder of the eye that is characterized by the relatively slow, painless, progressive loss of vision; This disorder can initially affect one eye or both, but both eyes are usually affected within six months; In most cases, visual loss is permanent; LHON is a genetic disorder that occurs as the result of a mutation in the mitochondrial DNA that is inherited from the mother or arises as a new sporadic mitochondrial DNA mutation--------[NORD 2005]----------------


External Links Related to Optic atrophy, hereditary, of Leber
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)