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Leber’s hereditary optic neuropathy (LHON) or Leber optic atrophy is a mitochondrially inherited (mother to all offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision; this affects predominantly young adult males. However, LHON is only transmitted through the mother as it is primarily due to mutations in the mitochondrial (not nuclear) genome and only the egg contributes mitochondria to the embryo. LHON is usually due to one of three pathogenic mitochondrial DNA (mtDNA) point mutations. These mutations are at nucleotide positions 11778 G to A, 3460 G to A and 14484 T to C, respectively in the ND4, ND1 and ND6 subunit genes of complex I of the oxidative phosphorylation chain in mitochondria. Men cannot pass on the disease to their offspring.

Lebers hereditary optic neuropathy Video

2010 IPC Swimming World Championships, Eindhoven, Netherlands 200 Meter Individual Medley Time: 2:18.67 Placed 5th New American Record
4.12 min. | 0 user rating
At 19, Jeremy Poincenot had it all. The 19-year-old sophomore at San Diego State had joined a fraternity, selected international business as his major and was set to graduate in four years. Then his world turned upside down. Hear Jeremy, in his own words, share his inspiring story coping with a rare disease. It's cost him his eyesight, but given him new perspective and a fuller life experience.
5.73 min. | 5.0 user rating
2010 IPC Swimming World Championships, Eindhoven, Netherlands 100 Meter Freestyle Time: 54.43 Silver Medal New American Record
2.10 min. | 0 user rating
2010 Jimi Flowers Swim Classic -- 100 Meter Butterfly June 25-27, 2010 100 Meter Butterfly - Prelims Heat 1 US Olympic Training Center, Colorado Springs, Colorado
1.68 min. | 0 user rating
2010 Jimi Flowers Swim Classic -- 50 Meter Freestyle June 25-27, 2010 50 Meter Freestyle - Prelims Heat 2 US Olympic Training Center, Colorado Springs, Colorado
0.80 min. | 0 user rating
2008 Beijing Paralympic Games - 100 Meter Backstroke 100 Meter Backstroke Time: 1:04.08 5th Place
5.03 min. | 5.0 user rating
2010 Jimi Flowers Swim Classic -- 100 Meter Backstroke June 25-27, 2010 100 Meter Backstroke - Prelims Heat 2 US Olympic Training Center, Colorado Springs, Colorado
1.57 min. | 0 user rating
2010 IPC Swimming World Championships Eindhoven, Netherlands 100 Meter Backstroke Time: 1:02.09 Bronze Medal New American Record
2.82 min. | 0 user rating
2010 IPC Swimming World Championships Eindhoven, Netherlands 50 Meter Freestyle Time: 25.01 Bronze Medal
1.47 min. | 0 user rating
LHON research at the doheny eye institute is the beneficiary of Greek Week and green Fest 2010. The story of Jeremy Poincenot. Visit stayclassy.org and search sdsu's greek week for additional info or to donate.
9.90 min. | 4.42 user rating

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Partially blind ex-pilot to take on 100km walk - Your Local Guardian Tweet this news
Your Local Guardian--Despite losing most of his sight in late 2007 and being diagnosed with the degenerative genetic condition -Lebers Hereditary Optic Neuropathy-, Mr Scholes is determined to lead an active life, even taking up marathon running. Mr Schol - Date : Thu, 14 Apr 2011 05:30:55 GMT+00:00
SANTHERA PHARM : Shareholders Approve all Board Proposals at Annual ... - 4-traders (press release) Tweet this news
4-traders (press release)--Looking into 2011 he said: "In line with our strategy, we continue to concentrate our activities on the key value drivers, namely the submission of the MAA in -Leber's Hereditary Optic Neuropathy- (LHON), the marke - Date : Mon, 11 Apr 2011 13:17:36 GMT+00:00
AN INSPIRATIONAL teenager who lost his sight is exceeding all expectations and ... - This is Scunthorpe Tweet this news
This is Scunthorpe--In November 2007, Jack Garner, 15, was diagnosed with a degenerative eye condition called -Leber's hereditary optic neuropathy-. Last year the Brumby Engineering College pupil went blind and now only has light perception. But, det - Date : Thu, 24 Mar 2011 09:21:25 GMT+00:00
Newron Said to Be in Talks for Sale to Santhera - BusinessWeek Tweet this news
BusinessWeek--Santhera, based in Liestal, Switzerland, plans to ask regulators to approve Catena as a treatment for -Leber's hereditary optic neuropathy-, a rare genetic ... - Date : Mon, 24 Jan 2011 17:41:21 GMT+00:00
Unseen skills honed - Leader News Tweet this news
Leader News--The 28-year-old carpenter was diagnosed in 2009 with -Leber's hereditary optic neuropathy- - a degenerative loss of sight - but the news didn't stop him from ... - Date : Thu, 13 Jan 2011 20:01:47 GMT+00:00
Keeping on the sunny side despite losing vision - Daily Aztec Tweet this news
Daily Aztec--In 2008 Poincenot, an SDSU international business senior, was diagnosed with a rare, incurable genetic disease called -Leber Hereditary Optic Neuropathy-, ... - Date : Mon, 18 Oct 2010 05:43:12 GMT+00:00
BioLineRx Nabs Rights to Santhera's Preclinical MC-4R Cachexia Program - Genetic Engineering News Tweet this news
Genetic Engineering News--In September Santhera said it plans to submit a Marketing Authorization Application for Catena in the treatment of -Leber's hereditary optic neuropathy- ... - Date : Thu, 14 Oct 2010 14:19:24 GMT+00:00
Hugin-News: Santhera Pharmaceuticals Holding AG - Saarbruecker-zeitung Tweet this news
Saarbruecker-zeitung---...- Results of a 6-months randomized, placebo-controlled trial (RHODOS) with idebenone (Catena®) in -Leber's Hereditary Optic Neuropathy- (LHON). ... - Date : Tue, 14 Sep 2010 06:44:15 GMT+00:00
Santhera Pharmaceuticals Holding AG (CH) - Santhera Announces Intent To File ... - PharmaLive (press release) (subscription) Tweet this news
PharmaLive (press release) (subscription)---...- SANN) announced today that it has formally notified the European Medicines Agency of its intent to file for -Leber's Hereditary Optic Neuropathy- (LHON). ... - Date : Wed, 22 Sep 2010 19:32:55 GMT+00:00
Swiss Stocks Are Little Changed; Roche, Holcim Drop, SGS Rises - BusinessWeek Tweet this news
BusinessWeek--The drugmaker said study data supported the use of the Catena medicine in the treatment of -Leber's Hereditary Optic Neuropathy-. To contact the reporter on ... - Date : Tue, 14 Sep 2010 15:53:36 GMT+00:00

Eye disease * pathology of the eye (H00-H59, 360-379)

Adnexa
eyelid: inflammation (Stye, Chalazion, Blepharitis) * Entropion * Ectropion * Lagophthalmos * Blepharochalasis * Ptosis * Blepharophimosis * Xanthelasma * eyelash (Trichiasis, Madarosis) lacrimal system: Dacryoadenitis * Epiphora * Dacryocystitis * Xerophthalmia orbit: Exophthalmos * Enophthalmos * Orbital cellulitis * Periorbital cellulitis conjunctiva: Conjunctivitis (Allergic conjunctivitis) * Pterygium * Pinguecula * Subconjunctival hemorrhage
Globe

Eye disease * pathology of the eye (H00-H59, 360-379)

Adnexa
eyelid: inflammation (Stye, Chalazion, Blepharitis) * Entropion * Ectropion * Lagophthalmos * Blepharochalasis * Ptosis * Blepharophimosis * Xanthelasma * eyelash (Trichiasis, Madarosis) lacrimal system: Dacryoadenitis * Epiphora * Dacryocystitis * Xerophthalmia orbit: Exophthalmos * Enophthalmos * Orbital cellulitis * Periorbital cellulitis conjunctiva: Conjunctivitis (Allergic conjunctivitis) * Pterygium * Pinguecula * Subconjunctival hemorrhage
Globe
Adnexa
eyelid: inflammation (Stye, Chalazion, Blepharitis) * Entropion * Ectropion * Lagophthalmos * Blepharochalasis * Ptosis * Blepharophimosis * Xanthelasma * eyelash (Trichiasis, Madarosis) lacrimal system: Dacryoadenitis * Epiphora * Dacryocystitis * Xerophthalmia orbit: Exophthalmos * Enophthalmos * Orbital cellulitis * Periorbital cellulitis conjunctiva: Conjunctivitis (Allergic conjunctivitis) * Pterygium * Pinguecula * Subconjunctival hemorrhage
Globe
subgroup
Fibrous tunic
sclera: Scleritis
cornea: Keratitis (Herpetic keratitis, Acanthamoeba keratitis, Fungal keratitis) * Corneal ulcer * Photokeratitis * Thygeson's superficial punctate keratopathy * Corneal dystrophy (Fuchs', Meesmann) * Keratoconus * Keratoconjunctivitis sicca * Keratoconjunctivitis * Corneal neovascularization * Kayser-Fleischer ring * Arcus senilis * Band keratopathy
Vascular tunic
Iris and ciliary bodyIritis * Uveitis (Intermediate uveitis) * Iridocyclitis * Hyphema * Rubeosis iridis * Persistent pupillary membrane * Iridodialysis * Synechia
ChoroidChoroideremia * Choroiditis (Chorioretinitis)
Lens
Cataract * Aphakia * Ectopia lentis |Retina |Retinitis (Chorioretinitis, Cytomegalovirus retinitis) * Retinal detachment * Retinoschisis * Ocular ischemic syndrome/Central retinal vein occlusion * Retinopathy (Bietti's crystalline dystrophy, Coats disease, Diabetic retinopathy, Hypertensive retinopathy, Retinopathy of prematurity) * Macular degeneration * Retinitis pigmentosa * Retinal haemorrhage * Central serous retinopathy * Macular edema * Epiretinal membrane * Macular pucker * Vitelliform macular dystrophy * Leber's congenital amaurosis * Birdshot chorioretinopathy |Other |Glaucoma/Ocular hypertension * Floater * Leber's hereditary optic neuropathy * Red eye * Keratomycosis * Phthisis bulbi
Retina
Retinitis (Chorioretinitis, Cytomegalovirus retinitis) * Retinal detachment * Retinoschisis * Ocular ischemic syndrome/Central retinal vein occlusion * Retinopathy (Bietti's crystalline dystrophy, Coats disease, Diabetic retinopathy, Hypertensive retinopathy, Retinopathy of prematurity) * Macular degeneration * Retinitis pigmentosa * Retinal haemorrhage * Central serous retinopathy * Macular edema * Epiretinal membrane * Macular pucker * Vitelliform macular dystrophy * Leber's congenital amaurosis * Birdshot chorioretinopathy |Other |Glaucoma/Ocular hypertension * Floater * Leber's hereditary optic neuropathy * Red eye * Keratomycosis * Phthisis bulbi
Other
Glaucoma/Ocular hypertension * Floater * Leber's hereditary optic neuropathy * Red eye * Keratomycosis * Phthisis bulbi

Eye disease * pathology of the eye (H00-H59, 360-379)

Adnexa
eyelid: inflammation (Stye, Chalazion, Blepharitis) * Entropion * Ectropion * Lagophthalmos * Blepharochalasis * Ptosis * Blepharophimosis * Xanthelasma * eyelash (Trichiasis, Madarosis) lacrimal system: Dacryoadenitis * Epiphora * Dacryocystitis * Xerophthalmia orbit: Exophthalmos * Enophthalmos * Orbital cellulitis * Periorbital cellulitis conjunctiva: Conjunctivitis (Allergic conjunctivitis) * Pterygium * Pinguecula * Subconjunctival hemorrhage
Globe
Adnexa
eyelid: inflammation (Stye, Chalazion, Blepharitis) * Entropion * Ectropion * Lagophthalmos * Blepharochalasis * Ptosis * Blepharophimosis * Xanthelasma * eyelash (Trichiasis, Madarosis) lacrimal system: Dacryoadenitis * Epiphora * Dacryocystitis * Xerophthalmia orbit: Exophthalmos * Enophthalmos * Orbital cellulitis * Periorbital cellulitis conjunctiva: Conjunctivitis (Allergic conjunctivitis) * Pterygium * Pinguecula * Subconjunctival hemorrhage
Globe
subgroup
Fibrous tunic
sclera: Scleritis
cornea: Keratitis (Herpetic keratitis, Acanthamoeba keratitis, Fungal keratitis) * Corneal ulcer * Photokeratitis * Thygeson's superficial punctate keratopathy * Corneal dystrophy (Fuchs', Meesmann) * Keratoconus * Keratoconjunctivitis sicca * Keratoconjunctivitis * Corneal neovascularization * Kayser-Fleischer ring * Arcus senilis * Band keratopathy
Vascular tunic
Iris and ciliary bodyIritis * Uveitis (Intermediate uveitis) * Iridocyclitis * Hyphema * Rubeosis iridis * Persistent pupillary membrane * Iridodialysis * Synechia
ChoroidChoroideremia * Choroiditis (Chorioretinitis)
Lens
Cataract * Aphakia * Ectopia lentis |Retina |Retinitis (Chorioretinitis, Cytomegalovirus retinitis) * Retinal detachment * Retinoschisis * Ocular ischemic syndrome/Central retinal vein occlusion * Retinopathy (Bietti's crystalline dystrophy, Coats disease, Diabetic retinopathy, Hypertensive retinopathy, Retinopathy of prematurity) * Macular degeneration * Retinitis pigmentosa * Retinal haemorrhage * Central serous retinopathy * Macular edema * Epiretinal membrane * Macular pucker * Vitelliform macular dystrophy * Leber's congenital amaurosis * Birdshot chorioretinopathy |Other |Glaucoma/Ocular hypertension * Floater * Leber's hereditary optic neuropathy * Red eye * Keratomycosis * Phthisis bulbi
Retina
Retinitis (Chorioretinitis, Cytomegalovirus retinitis) * Retinal detachment * Retinoschisis * Ocular ischemic syndrome/Central retinal vein occlusion * Retinopathy (Bietti's crystalline dystrophy, Coats disease, Diabetic retinopathy, Hypertensive retinopathy, Retinopathy of prematurity) * Macular degeneration * Retinitis pigmentosa * Retinal haemorrhage * Central serous retinopathy * Macular edema * Epiretinal membrane * Macular pucker * Vitelliform macular dystrophy * Leber's congenital amaurosis * Birdshot chorioretinopathy |Other |Glaucoma/Ocular hypertension * Floater * Leber's hereditary optic neuropathy * Red eye * Keratomycosis * Phthisis bulbi
Other
Glaucoma/Ocular hypertension * Floater * Leber's hereditary optic neuropathy * Red eye * Keratomycosis * Phthisis bulbi
Adnexa
eyelid: inflammation (Stye, Chalazion, Blepharitis) * Entropion * Ectropion * Lagophthalmos * Blepharochalasis * Ptosis * Blepharophimosis * Xanthelasma * eyelash (Trichiasis, Madarosis) lacrimal system: Dacryoadenitis * Epiphora * Dacryocystitis * Xerophthalmia orbit: Exophthalmos * Enophthalmos * Orbital cellulitis * Periorbital cellulitis conjunctiva: Conjunctivitis (Allergic conjunctivitis) * Pterygium * Pinguecula * Subconjunctival hemorrhage
Globe
subgroup
Fibrous tunic
sclera: Scleritis
cornea: Keratitis (Herpetic keratitis, Acanthamoeba keratitis, Fungal keratitis) * Corneal ulcer * Photokeratitis * Thygeson's superficial punctate keratopathy * Corneal dystrophy (Fuchs', Meesmann) * Keratoconus * Keratoconjunctivitis sicca * Keratoconjunctivitis * Corneal neovascularization * Kayser-Fleischer ring * Arcus senilis * Band keratopathy
Vascular tunic
Iris and ciliary bodyIritis * Uveitis (Intermediate uveitis) * Iridocyclitis * Hyphema * Rubeosis iridis * Persistent pupillary membrane * Iridodialysis * Synechia
ChoroidChoroideremia * Choroiditis (Chorioretinitis)
Lens
Cataract * Aphakia * Ectopia lentis |Retina |Retinitis (Chorioretinitis, Cytomegalovirus retinitis) * Retinal detachment * Retinoschisis * Ocular ischemic syndrome/Central retinal vein occlusion * Retinopathy (Bietti's crystalline dystrophy, Coats disease, Diabetic retinopathy, Hypertensive retinopathy, Retinopathy of prematurity) * Macular degeneration * Retinitis pigmentosa * Retinal haemorrhage * Central serous retinopathy * Macular edema * Epiretinal membrane * Macular pucker * Vitelliform macular dystrophy * Leber's congenital amaurosis * Birdshot chorioretinopathy |Other |Glaucoma/Ocular hypertension * Floater * Leber's hereditary optic neuropathy * Red eye * Keratomycosis * Phthisis bulbi subgroup |groupstyle=background-color: LemonChiffon |Optic nerve and
visual pathways |Optic neuritis * Papilledema * Optic atrophy * Leber's hereditary optic neuropathy * Dominant optic atrophy * Optic disc drusen * Glaucoma * Toxic and nutritional optic neuropathy * Anterior ischemic optic neuropathy |Ocular muscles,
binocular movement,
accommodation |
Paralytic strabismusOphthalmoparesis * Progressive external ophthalmoplegia * Palsy (III, IV, VI) * Kearns-Sayre syndrome
Other strabismusEsotropia/Exotropia * Hypertropia * Heterophoria (Esophoria, Exophoria) * Brown's syndrome * Duane syndrome
Other binocularConjugate gaze palsy * Convergence insufficiency * Internuclear ophthalmoplegia * One and a half syndrome
Retina
Retinitis (Chorioretinitis, Cytomegalovirus retinitis) * Retinal detachment * Retinoschisis * Ocular ischemic syndrome/Central retinal vein occlusion * Retinopathy (Bietti's crystalline dystrophy, Coats disease, Diabetic retinopathy, Hypertensive retinopathy, Retinopathy of prematurity) * Macular degeneration * Retinitis pigmentosa * Retinal haemorrhage * Central serous retinopathy * Macular edema * Epiretinal membrane * Macular pucker * Vitelliform macular dystrophy * Leber's congenital amaurosis * Birdshot chorioretinopathy
Ocular muscles,
binocular movement,
accommodation
Paralytic strabismusOphthalmoparesis * Progressive external ophthalmoplegia * Palsy (III, IV, VI) * Kearns-Sayre syndrome
Other strabismusEsotropia/Exotropia * Hypertropia * Heterophoria (Esophoria, Exophoria) * Brown's syndrome * Duane syndrome
Other binocularConjugate gaze palsy * Convergence insufficiency * Internuclear ophthalmoplegia * One and a half syndrome
Refraction
Refractive error: Hyperopia/Myopia * Astigmatism * Anisometropia/Aniseikonia * Presbyopia
Visual disturbances
and blindness
Amblyopia * Leber's congenital amaurosis * Subjective (Asthenopia, Hemeralopia, Photophobia, Scintillating scotoma) * Diplopia * Scotoma * Anopsia (Binasal hemianopsia, Bitemporal hemianopsia, Homonymous hemianopsia, Quadrantanopia) * Color blindness (Achromatopsia, Dichromacy, Monochromacy) * Nyctalopia (Oguchi disease) * Blindness/Low vision
Pupil
Anisocoria * Argyll Robertson pupil * Marcus Gunn pupil * Adie syndrome * Miosis * Mydriasis * Cycloplegia
Other
Glaucoma/Ocular hypertension * Floater * Leber's hereditary optic neuropathy * Red eye * Keratomycosis * Phthisis bulbi subgroup |groupstyle=background-color: LemonChiffon |Optic nerve and
visual pathways |Optic neuritis * Papilledema * Optic atrophy * Leber's hereditary optic neuropathy * Dominant optic atrophy * Optic disc drusen * Glaucoma * Toxic and nutritional optic neuropathy * Anterior ischemic optic neuropathy |Ocular muscles,
binocular movement,
accommodation |
Paralytic strabismusOphthalmoparesis * Progressive external ophthalmoplegia * Palsy (III, IV, VI) * Kearns-Sayre syndrome
Other strabismusEsotropia/Exotropia * Hypertropia * Heterophoria (Esophoria, Exophoria) * Brown's syndrome * Duane syndrome
Other binocularConjugate gaze palsy * Convergence insufficiency * Internuclear ophthalmoplegia * One and a half syndrome

Non-Mendelian inheritance: Mitochondrial diseases (277.87)

Carbohydrate metabolismPCD * PDHA
Primarily nervous systemLHON * NARP * Leigh's
MyopathiesMitochondrial encephalomyopathy (MELAS, MERRF) * KSS * PEO
No primary systemDAD * MNGIE * Pearson syndrome



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