- in young patient, mention you like to examine the eyes for internuclear ophthalmoplegia and cerebellar sign for multiple sclerosis
- Signs of Cushing's syndrome in SLE pts on steroid
- in old patient, look for evidence of vascular diseases such as prominent temporal artery (or old scar indicating temporal artery biopsy) and carotid bruit
(or endarterectomy scar)
If congenital, it is usually hereditary with an onset of deterioration in childhood and may be accompanied by nystagmus. Leber's Hereditary Optic Neuropathy, (LHON) or Leber Optic Atrophy is hereditary, but typically has its onset in 20-30 year old males. This is due to a mutation of the mitochondrial genome and hence is passed exclusively through the mothers. Dominant optic atrophy or Kjer's optic neuropathy has autosomal dominant inheritance. It usually presents in early childhood. There are numerous less common genetically related syndromes.
Alternatively, congenital optic atrophy can be caused by a lack of oxygen during pregnancy, labour or in the early days of a child's life. Some drugs taken during pregnancy are also associated with optic atrophy.Acquired
The acquired type of optic atrophy may be due to blood supply changes in the eye or optic nerve (anterior ischemic optic neuropathy or posterior ischemic optic neuropathy), may be secondary to inflammation or swelling within the optic nerve (optic neuritis), may be a result of pressure against the optic nerve (such as from a tumour), or may be related to metabolic diseases (e.g., diabetes mellitus), trauma, glaucoma, or toxicity (caused by methanol, tobacco, or other poisons). It is also seen in vitamin B12 deficiency and Paget's disease of the bone.