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Vision loss in dominant optic atrophy is due to optic nerve fiber loss from mitochondria dysfunction. Dominant optic atrophy is associated with mutation of the OPA1 gene [9] found on chromosome 3, region q28-qter. Also, 5 other chromosomal genes are described as causing optic atrophy: OPA2 (x-linked), OPA3 (dominant), OPA4 (dominant), OPA5 ...
In children, optic disc drusen are usually buried and undetectable by fundoscopy except for a mild or moderate elevation of the optic disc. With age, the overlying axons become atrophied and the drusen become exposed and more visible. They may become apparent with an ophthalmoscope and some visual field loss at the end of adolescence. [7]
Leber's hereditary optic neuropathy (LHON) is the most frequently occurring mitochondrial disease, and this inherited form of acute or subacute vision loss predominantly affects young males. LHON usually presents with rapid vision loss in one eye followed by involvement of the second eye (usually within months).
Leber's hereditary optic neuropathy (LHON) is a mitochondrially inherited (transmitted from mother to offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision; it predominantly affects young adult males.
Cone dystrophy; Fundus of a 45 year-old patient with cone rod dystrophy segregating with a loss-of-function mutation (E1087X) in ABCA4. Note the presence of various-shaped pigment deposits in the posterior pole with atrophy of the retina, while the retina appears less damaged in periphery (upper part of the photograph).
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 prognosis for CSR is generally excellent. While immediate vision loss may be as poor as 20/200 in the affected eye, clinically, over 90% of patients regain 20/25 vision or better within 45 days. [1] Once the fluid has resolved, either spontaneously or through treatment, distortion is reduced and visual acuity improves as the eye heals.
Pain, visual loss, relapse, and steroid response are typical of CRION. [1] [3] Ocular pain is typical, although there are some cases with no reported pain. [3] 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 ...