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Autosomal dominant optic atrophy can present clinically as an isolated bilateral optic neuropathy (non-syndromic form) or rather as a complicated phenotype with extra-ocular signs (syndromic form). Dominant optic atrophy usually affects both eyes roughly symmetrically in a slowly progressive pattern of vision loss beginning in childhood and is ...
A necropsy study of 737 cases showed a 2.4% incidence with 2 out of 15 (13%) bilateral, [2] perhaps indicating the insidious nature of many cases. An autosomal dominant inheritance pattern with incomplete penetrance and associated inherited dysplasia of the optic disc and its blood supply is suspected.
Vision loss in toxic and nutritional optic neuropathy is bilateral, symmetric, painless, gradual, and progressive. Dyschromatopsia, a change in color vision, is often the first symptom. Some patients notice that certain colors, particularly red, are less bright or vivid; others have a general loss of color perception.
The optic nerve contains axons of nerve cells that emerge from the retina, leave the eye at the optic disc, and go to the visual cortex where input from the eye is processed into vision. There are 1.2 million optic nerve fibers that derive from the retinal ganglion cells of the inner retina. [ 2 ]
Despite the term posterior, this form of damage to the eye's optic nerve due to poor blood flow also includes cases where the cause of inadequate blood flow to the nerve is anterior, as the condition describes a particular mechanism of visual loss as much as the location of damage in the optic nerve.
These genes code for proteins involved in the WNT signaling pathway, which is involved in the development of the human eye and regulation of blood vessel growth. [2] Depending on the genes involved, FEVR can follow an autosomal dominant , autosomal recessive , or X-linked inheritance pattern.
Bilateral severe visual loss (simultaneous or sequential) usually occurs, but there are reports of unilateral visual loss. [3] Patients can have an associated relative afferent pupillary defect. [5] CRION is associated with at least one relapse, and up to 18 relapses have been reported in an individual. [6]
There are many diseases known to cause ocular or visual changes. Diabetes , for example, is the leading cause of new cases of blindness in those aged 20–74, with ocular manifestations such as diabetic retinopathy and macular edema affecting up to 80% of those who have had the disease for 15 years or more.