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Leber hereditary optic neuropathy: current perspectives.

Meyerson C, Van Stavern G, McClelland C - Clin Ophthalmol (2015)

Bottom Line: The disorder results from point mutations in mitochondrial DNA and subsequent mitochondrial dysfunction.Patients should be offered low vision services and counseled on mitigating risk factors for additional vision loss, such as smoking and consuming alcohol.Encouraging treatments currently undergoing investigation includes ubiquinone analogs, such as idebenone, as well as gene therapy and stem cells to restore ATP synthesis and provide neuroprotection to surviving retinal ganglion cells.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO, USA.

ABSTRACT
Leber hereditary optic neuropathy (LHON) is one of the most common inherited optic neuropathies causing bilateral central vision loss. The disorder results from point mutations in mitochondrial DNA and subsequent mitochondrial dysfunction. The primary cell type that is lost in LHON is the retinal ganglion cell, which is highly susceptible to disrupted ATP production and oxidative stress. Inheritance of LHON follows that of mitochondrial genetics, and it has a highly variable clinical phenotype, as other genetic and environmental factors also play a role. Although LHON usually presents with isolated vision loss, some patients suffer other neurological sequelae. For ill-defined reasons, male LHON mutation carriers are more affected than females. Most LHON patients remain legally blind, but a small proportion can experience spontaneous partial recovery, often within the first year of symptom onset. Unfortunately, at this time there are no established curative interventions and treatment is largely supportive. Patients should be offered low vision services and counseled on mitigating risk factors for additional vision loss, such as smoking and consuming alcohol. Encouraging treatments currently undergoing investigation includes ubiquinone analogs, such as idebenone, as well as gene therapy and stem cells to restore ATP synthesis and provide neuroprotection to surviving retinal ganglion cells.

No MeSH data available.


Related in: MedlinePlus

Automated 30-2 protocol Humphrey visual field study of the right eye showing a dense cecocentral scotoma on the grayscale (A) and total deviation map (B) in a patient with acute LHON-related vision loss.Abbreviation: LHON, Leber hereditary optic neuropathy.
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f1-opth-9-1165: Automated 30-2 protocol Humphrey visual field study of the right eye showing a dense cecocentral scotoma on the grayscale (A) and total deviation map (B) in a patient with acute LHON-related vision loss.Abbreviation: LHON, Leber hereditary optic neuropathy.

Mentions: The majority of individuals progress to a visual acuity of 20/200 or worse.16 Due to preferential involvement of the papillomacular bundle, the earliest visual field abnormality is a cecocentral scotoma (Figure 1), which can enlarge to become a larger central defect.16 Dyschromatopsia is common and usually parallels the degree of visual acuity loss.5,12,16 Pupillary light reflexes usually remain intact due to relative sparing of melanopsin-containing RGCs. This subset of RGCs are thought to be more resistant to metabolic insult from mitochondrial dysfunction when compared with all RGCs.4,17,18 In cases of asymmetric bilateral or monocular vision loss, however, a relative afferent pupillary defect can occur.19


Leber hereditary optic neuropathy: current perspectives.

Meyerson C, Van Stavern G, McClelland C - Clin Ophthalmol (2015)

Automated 30-2 protocol Humphrey visual field study of the right eye showing a dense cecocentral scotoma on the grayscale (A) and total deviation map (B) in a patient with acute LHON-related vision loss.Abbreviation: LHON, Leber hereditary optic neuropathy.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4492634&req=5

f1-opth-9-1165: Automated 30-2 protocol Humphrey visual field study of the right eye showing a dense cecocentral scotoma on the grayscale (A) and total deviation map (B) in a patient with acute LHON-related vision loss.Abbreviation: LHON, Leber hereditary optic neuropathy.
Mentions: The majority of individuals progress to a visual acuity of 20/200 or worse.16 Due to preferential involvement of the papillomacular bundle, the earliest visual field abnormality is a cecocentral scotoma (Figure 1), which can enlarge to become a larger central defect.16 Dyschromatopsia is common and usually parallels the degree of visual acuity loss.5,12,16 Pupillary light reflexes usually remain intact due to relative sparing of melanopsin-containing RGCs. This subset of RGCs are thought to be more resistant to metabolic insult from mitochondrial dysfunction when compared with all RGCs.4,17,18 In cases of asymmetric bilateral or monocular vision loss, however, a relative afferent pupillary defect can occur.19

Bottom Line: The disorder results from point mutations in mitochondrial DNA and subsequent mitochondrial dysfunction.Patients should be offered low vision services and counseled on mitigating risk factors for additional vision loss, such as smoking and consuming alcohol.Encouraging treatments currently undergoing investigation includes ubiquinone analogs, such as idebenone, as well as gene therapy and stem cells to restore ATP synthesis and provide neuroprotection to surviving retinal ganglion cells.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO, USA.

ABSTRACT
Leber hereditary optic neuropathy (LHON) is one of the most common inherited optic neuropathies causing bilateral central vision loss. The disorder results from point mutations in mitochondrial DNA and subsequent mitochondrial dysfunction. The primary cell type that is lost in LHON is the retinal ganglion cell, which is highly susceptible to disrupted ATP production and oxidative stress. Inheritance of LHON follows that of mitochondrial genetics, and it has a highly variable clinical phenotype, as other genetic and environmental factors also play a role. Although LHON usually presents with isolated vision loss, some patients suffer other neurological sequelae. For ill-defined reasons, male LHON mutation carriers are more affected than females. Most LHON patients remain legally blind, but a small proportion can experience spontaneous partial recovery, often within the first year of symptom onset. Unfortunately, at this time there are no established curative interventions and treatment is largely supportive. Patients should be offered low vision services and counseled on mitigating risk factors for additional vision loss, such as smoking and consuming alcohol. Encouraging treatments currently undergoing investigation includes ubiquinone analogs, such as idebenone, as well as gene therapy and stem cells to restore ATP synthesis and provide neuroprotection to surviving retinal ganglion cells.

No MeSH data available.


Related in: MedlinePlus