Leber Hereditary Optic Neuropathy
Also written as LHON.
Leber hereditary optic neuropathy is the prototypical mitochondrial disease
What our notes say
- Leber hereditary optic neuropathy is the prototypical mitochondrial disease (Clinical Genetics: Master Mendelian Disorders & Molecular Basis)
- Leber's Hereditary Optic Neuropathy (LHON) → sudden blindness in young adults (Genetic Disorders Pathology Crash Course: Exam Revision Notes)
- Examples: Leber hereditary optic neuropathy, mitochondrial myopathies (Oncopathology And Genetic Disorders End Sem Cat)
Study material on Leber Hereditary Optic Neuropathy
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Practice questions on Leber Hereditary Optic Neuropathy
Leber hereditary optic neuropathy (LHON) is due to:
- Trisomy 13
- X-linked gene defect
- Mutation in mitochondrial genes encoding oxidative phosphorylation enzymes
- Deletion of Y chromosome
- Loss of RB1 gene ✅ Answer: C
Answer: A. LHON is a mitochondrial disorder caused by mutations in mitochondrial DNA genes involved in oxidative phosphorylation.
Leber hereditary optic neuropathy (LHON) is due to ---
- Trisomy 13
- X-linked gene defect
- Mutation in mitochondrial genes encoding oxidative phosphorylation enzymes
- Deletion of Y chromosome
- Loss of RB1 gene
Answer: C.