منابع مشابه
Genetic causes of optic nerve hypoplasia.
Optic nerve hypoplasia (ONH) is the most common congenital optic nerve anomaly and a leading cause of blindness in the USA. Although most cases of ONH occur as isolated cases within their respective families, the advancement in molecular diagnostic technology has made us realise that a substantial fraction of cases has identifiable genetic causes, typically de novo mutations. An increasing numb...
متن کاملOptic Nerve Hypoplasia
Congenital anomalies of the optic disc underlie many cases of decreased vision, strabismus, and nystagmus in childhood. A comprehensive evaluation necessitates an understanding of the ophthalmoscopic features, associated neuro-ophthalmologic findings, pathogenesis, and appropriate ancillary studies for each anomaly. The subclassification of different forms of “colobomatous” defects on the basis...
متن کاملSpectrum of optic nerve hypoplasia.
Optic nerve hypoplasia is a non-progressive condition characterised by subnormal vision and a subnormal number of optic nerve axons. It may be unilateral or bilateral, isolated or combined with other defects. Analysis of fundus photographs from a series of 7 patients with a stationary abnormality of different degrees showed that the functional defects could be closely correlated with defects in...
متن کاملHypoplasia of the optic nerve.
Hypoplasia of the optic nerve is uncommon (Scheie and Adler, I94I; Somerville, I962; Whinery and Blodi, I963; Ewald, I967). It is usually due to a failure of development of the ganglion cell layer of the retina and results in a small but discernible optic disc with central vessels. The disc may be cupped with a peripapillary, mottled, yellowish halo corresponding to the size of the normal disc,...
متن کاملIncidental bilateral optic nerve hypoplasia.
Harvey JP. BMJ Case Rep 2017. doi:10.1136/bcr-2017-220343 Description A 19-year-old man was incidentally noted to have a bitemporal heteronymous hemianopia on automated perimetry during his first optician’s sight test (figure 1). The patient reported life-long reduced vision in the right eye although this was his first presentation to ophthalmic services. The patient was induced at 34 weeks due...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2017
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmedgenet-2017-104626