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Autopsy on one of the sister with Behr Syndrome revealed central atrophy of the optic nerves and total disarray of the normal laminar pattern of the lateral geniculate nucleus, dropout of neurons, and gliosis. There were numerous axonal spheroids in the neuropil. Similar spheroids with cell loss and gliosis were also observed in other thalamic ...
[2] [5] Prognosis is good if cataracts are detected early and surgery occurs aged 6 weeks for unilateral cataracts and at 8 weeks for bilateral cataracts. [5] Favorable outcomes are associated with timely surgery, appropriate postoperative care, and visual rehabilitation postoperatively. [ 4 ]
Treatment options depend on the severity of the condition. For children under the age of two years old whose vision is affected by the cataracts in both eyes, surgical options include intraocular lens implantation or a lensectomy. [2] Congenital cataracts are considered to be a significant cause of childhood blindness.
Posterior ischemic optic neuropathy is a syndrome of sudden visual loss with optic neuropathy without initial disc swelling with subsequent development of optic atrophy. This can occur in patients who are predisposed to AAION and NAION as described above as well as those who had cardiac and spine surgery or serious episodes of hypotension.
On examination the pupillary responses may be sluggish to light. One would not expect to find an afferent pupillary defect because optic neuropathies are often bilateral and symmetric. [2] The optic disc may appear mildly hyperemic with small splinter hemorrhages on or around the disc, or may appear nearly normal. Optic atrophy typically ...
[13] [32] A 2014 review indicated that an estimated 238,500 children with bilateral blindness (rate 1.2/1,000) live in the Eastern Mediterranean region. [30] There is also an increase in blindness outside of developing countries due to a lack of screening and prophylactic measures to treat causes of pediatric blindness.
Non-arteritic anterior ischemic optic neuropathy (NAION) is a medical condition characterized by loss of vision caused by damage to the optic nerve as a result of ischemia, or insufficient blood supply. The key symptom of NAION is optic disc swelling, which typically resolves within 2 months, but often leads to optic atrophy. The likelihood of ...
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 ...