Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1

Medicine and Dentistry

• Cataract 100%
• Optic Nerve Atrophy 100%
• Gene Mutation 30%
• Ataxia 15%
• Neurologic Disease 7%
• Neuropathy 7%
• In Silico 7%
• Polyneuropathy 7%
• Exome Sequencing 7%
• Autosomal Dominant Inheritance 7%
• Agents Acting on the Eye 7%
• Autosomal Recessive Inheritance 7%

Biochemistry, Genetics and Molecular Biology

• Optic Atrophy 1 100%
• Gene Mutation 57%
• Autosomal Dominant Inheritance 28%
• Exome Sequencing 14%
• Autosomal Recessive Inheritance 14%

Immunology and Microbiology

• Gene Mutation 100%
• Autosomal Dominant Inheritance 50%
• Whole Exome Sequencing 25%
• Autosomal Recessive Inheritance 25%