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Optic nerve hypoplasia (ONH) is a congenital condition in which the optic nerve is underdeveloped (small). Many times, de Morsier’s Syndrome or septo-optic dysplasia (SOD) is associated with ONH, however, it is possible to have ONH without any additional issues like SOD. SOD is a condition that can involve multiple problems in the midline ...
Developmental delays are more common in children with bilateral optic nerve hypoplasia than those with unilateral optic nerve hypoplasia. [6] Bilateral optic nerve hypoplasia is also associated with a more severe disease course. [7] There may be nystagmus (involuntary eye movements, often side-to-side). [6]
Ocular disc dysplasia is the most notable ocular defect of the disease. An abnormal development in the optic stalk causes optic disc dysplasia, which is caused by a mutation in the Pax2 gene. [4] The nerve head typically resembles the morning glory disc anomaly, but has also been described as a coloboma. [4]
Congenital aniridia is not simply an iris defect but a more complex condition affecting multiple parts of the eye, with macular and optic nerve hypoplasia, cataract, and corneal changes. [2] Vision may be severely compromised and the disorder is frequently associated with several other ocular complications, including nystagmus , amblyopia ...
Optic nerve hypoplasia is the underdevelopment of the optic nerve resulting in little to no vision in the affected eye. Tumors, especially those of the pituitary gland, can put pressure on the optic nerve causing various forms of visual loss. Similarly, cerebral aneurysms, a swelling of blood vessel(s), can also affect the nerve. Trauma can ...
Patau syndrome (trisomy 13), a chromosomal abnormality that can cause a number of deformities, some of which include structural eye defects, including microphthalmia, Peters anomaly, cataract, iris and/or fundus coloboma, retinal dysplasia or retinal detachment, sensory nystagmus, cortical visual loss, and optic nerve hypoplasia.
Optic nerve hypoplasia is the only reported condition with gelastic seizures without hypothalamic hamartomas, suggesting that hypothalamic disorganization alone can cause gelastic seizures. [ 4 ] History
There may also be crossing of the eyes , [8] and less commonly there may be twisted retinal blood vessels or optic nerve hypoplasia. [3] [7] The eye anomalies can result in an inability to focus (astigmatism) as well as amblyopia, in which the brain begins to fail to process input from the weaker eye during childhood. [7]
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