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Optic Atrophy, Hereditary

2 Diseases & Disorders / 2 Eye Diseases, Hereditary / Optic Atrophy, Hereditary

2 Diseases & Disorders / 2 Optic Nerve Diseases / 2 Optic Atrophy /  
Optic Atrophy, Hereditary

 
  MeSH description: Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy and Leber hereditary optic neuropathy. The latter is a rare, maternal linked, genetic disorder that is characterized by progressive bilateral optic nerve degeneration. Male offspring are predominantly affected and develop a loss of central vision in the second or third decade of life. Retinal ganglion cells and optic nerve axons that subserve central vision degenerate. The disease is associated with missense mutations of mitochondrial DNA. In some pedigrees this condition is associated with dystonia, sensory neuropathies, pre-excitation syndromes, and other disorders. (From Biochim Biophys Acta 1999 Feb 9;1410(2):147-58)
 
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  Characteristics of Septo Optic Dysplasia Web Site: Characteristics of Septo Optic Dysplasia

Children's Hospital Boston: Mitochondrial Inheritance: Leber's Optic Atrophy

EyeMDLink: Leber's Hereditary Optic Neuropathy

Focus Family Web Site: Focus Family - Home Page To help parents and caregivers with children who have Optic Nerve Hypoplasia (O.N.H.) and Septo-Optic Dysplasia (S.O.D.)

General Practice Notebook: Leber's Hereditary Optic Atrophy

GeneReviews: Leber Hereditary Optic Neuropathy (LHON, Leber's Optic Atrophy, Leber's Optic Neuropathy]

► healthAtoZ.com: Optic Atrophy

► International Foundation for Optic Nerve Disease: Leber's Hereditary Optic Neuropathy

► Iris Fund for Prevention of Blindness /UK/: Dominant Optic Atrophy

► Leber's Hereditary Optic Neuropathy Trust: Leber's Hereditary Optic Neuropathy

► Magic Foundation for Children's Growth: Septo-Optic Dysplasia (SOD)

► Medical Object Oriented Softwere Enterprises: Leber's Optic Atrophy Diseases Database

► National Institute of Neurological Disorders and Stroke (NINDS): NINDS Septo-Optic Dysplasia Information Page

► Texas School for the Blind and Visually Impaired: Leber's Congenital Amarousis - Parents Seeking Parents / Septo-Optic Dysplasia

► WrongDiagnosis.com: Introduction: Leber's hereditary optic atrophy

► Yale New Haven Health: Leber's Optic Atrophy

 

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