Lecture on Optic Atrophy For 4th Year MBBS Undergraduate Students By Prof. Dr. Hussain Ahmad Khaqan

1. Optic Atrophy
Prof. Dr. Hussain Ahmad Khaqan
 MD
 FRCS(Glasgow)
 FCPS(Ophth.)
 FCPS(Vitreo Retina)
 MHPE (KMU)
 CICO(UK)
 CMT(UOL)
 Fellowship in Medical Retina (LMU, Munich)
 Fellowship in Vitreo Retinal Surgery (LMU, Munich)
 Consultant Ophthalmologist & Retinal Surgeon
Professor of Ophthalmology
Lahore General Hospital, Lahore
Ameer Ud Din Medical College, Lahore
Post Graduate Medical Institute, Lahore
Shaukat Khanum Memorial Cancer Hospital & Research Centre ,Lahore

2. OPTIC ATROPHY

3. SYMPTOMS
• Painless decrease in visual acuity
• Impaired color vision
• Field defects
• Hearing loss

4. SIGNS
• Dyschromatopsia
• Centrocecal visual field defects.
• Disc may show peripapillary telangiectasia and
peripapillary nerve fibre layer swelling (early) and
temporal pallor (late).

5. TYPES OF OPTIC ATROPHY
DOMINANT OPTIC ATROPHY
• Mild-to-moderate bilateral visual loss (20/40 to 20/200) usually
presenting at approximately age 4. Slow progression, temporal disc
pallor, cecocentral visual field defect, tritanopic (blue-yellow) color
defect on Farnsworth–Munsell 100-hue test, strong family history, no
nystagmus.
COMPLICATED HEREDITARY OPTIC ATROPHY
• Bilateral optic atrophy with spinocerebellar degenerations (e.g. ,
Friedreich, Marie, Behr), polyneuropathy (e.g. , Charcot–Marie–Tooth),
or inborn errors of metabolism.

6. RADIATION OPTIC NEUROPATHY
• Delayed effect (usually 1 to 5 years) after radiation therapy to the
eye, orbit, sinus, nasopharynx, and occasionally brain with acute or
gradual stepwise visual loss that is commonly severe. Disc swelling,
radiation retinopathy, or both may be present. Enhancement of optic
nerve or chiasm on MRI.
TYPES OF OPTIC ATROPHY

7. CAUSES
Causes of optic atrophy
Inherited Kjer syndrome
Behr syndrome
Wolfram syndrome
Compression Extrinsic tumor Pituitary
Metastasis
Meningioma
Other Aneurysm
Mucocele
Vascular Central Retinal Artery Occlusion (CRAO)
Anterior Ischemic Optic Neuropathy (AION)
Inflammatory Acute demyelinating optic neuritis
Vasculitis
Sarcoidosis
Infection Bacterial
Rickettsial
Viral
Fungal
Nutritional B1 , B2, B6, B12 deficiency
Folate deficiency
Toxic Amiodarone
Cyanide
Lead
Isoniazid
Other Trauma , disc oedema, retinal disease

8. DIFFERENTIAL DIAGNOSIS
• Leber hereditary optic neuropathy (LHON)
• Toxic and nutritional optic neuropathies. Autosomal
dominant optic atrophy (DOA), a nuclear (OPA1)
genetic disorder, can be confused with toxic and
nutritional optic neuropathies.
• Amiodarone-induced optic neuropathy

9. INVESTIGATIONS
• Optical coherence tomography (OCT)
• B1, B2, B12, folic acid levels (peripheral blood), and
heavy metal screening (including 24h urine), serum
pyruvate levels.
• Mitochondrial DNA analysis for Leber hereditory
optic neuropathy (LHON)
• Electrophysiological studies can be useful to
distinguish organic from inorganic disease.

10. TREATMENT
• The cause of a toxic or deficiency optic neuropathy
should be found and treated early (for example, by
cessation of smoking and the administration of
vitamins in tobacco–alcohol amblyopia).
• Idebenone, a quinol analog, has been used recently
in a few cases of Leber hereditary optic neuropathy
(LHON).