Causes and risk factors
Leber’s hereditary optic atrophy is an inherited disorder, always from the maternal side. It occurs due to a genetic mutation in either of the 3 – G11778A, T14484C and G3460A.
Leber’s hereditary optic atrophy is sometimes found in association with other disorders such as Wolff-Parkinson-White syndrome or Lown-Ganong-Levine syndrome.
Clinical presentation
The symptoms usually begin in the age group of 25-35 years. The first symptom is usually blurring of central vision. The color vision also starts getting affected. A large scotoma (blind spot) develops, the vision deteriorates rapidly, eventually leading to blindness.
Investigations
On eye examination, the visual acuity is fairly reduced. A large central scotoma can be seen. A fluorescein angiography of the eyes reveals tortuous retinal vessels and telangiectasias. Imaging scans such as CT or MRI may be done to rule out other causes of optic nerve damage.
Treatment
There is no available treatment for this disorder. Visual aids are provided to the patient as a supportive measure.
Complications
Leber’s hereditary optic atrophy leads to irreversible visual loss, to the extent of total blindness in some people.
When to contact a doctor
Contact a doctor as soon as you experience any problems with your vision.
Prevention
Being a genetic disorder, this condition cannot be prevented if the faulty gene is present.
Facts and figures
70% of all patients with Leber’s hereditary optic atrophy have a mutation in the G11778A gene.
Systems involved
Ophthalmic, CNS
Organs involved
Eyes, optic nerve
