Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia
نویسندگان
چکیده
منابع مشابه
Incidental 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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The atonal homolog 7 (ATOH7) gene encodes a transcription factor involved in determining the fate of retinal progenitor cells and is particularly required for optic nerve and ganglion cell development. Using a combination of autozygosity mapping and next generation sequencing, we have identified homozygous mutations in this gene, p.E49V and p.P18RfsX69, in two consanguineous families diagnosed ...
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The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including the eye. Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with Matthew-Wood syndrome and anophthalmia/microphthalmia (A/M), have previously demonstrated the importance of retinol metabolism in human eye disease. We used h...
متن کاملBilateral optic nerve hypoplasia with normal visual acuity.
A 26-year-old man, a 19-year-old man, and a 55-year-old man had bilateral optic nerve hypoplasia. They all had normal vision, but considerable defects in the inferior segments of the visual fields.
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...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2019
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddz268