Congenital Orbital Glial Heterotopia Associated with Clinicopathological Anophthalmia: A Case Report.
Sign Up to like & getrecommendations! Published in 2022 at "Klinische Monatsblatter fur Augenheilkunde"
DOI: 10.1055/a-1699-2758
Abstract: Glial heterotopia (GH) is the presence of glial tissue outside the cranial cavity, without communication with the brain. The orbital location usually presents as eyelid swelling, strabismus, and proptosis. This is considered a congenital location… read more here.
Keywords: glial heterotopia; congenital orbital; report; case ... See more keywords
Seeing the diagnosis on karyotype—SOX2 and eye development
Sign Up to like & getrecommendations! Published in 2017 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2017.1290119
Abstract: Karyotype has been a standard test for many decades in the context of multiple fetal or neonatal anomalies. This technique, however, has limited resolution, and deletions or duplications smaller than 5–7 Mb are not usually… read more here.
Keywords: array; diagnosis; karyotype; translocation ... See more keywords
Robust Genetic Analysis of the X-Linked Anophthalmic (Ie) Mouse
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13101797
Abstract: Anophthalmia (missing eye) describes a failure of early embryonic ocular development. Mutations in a relatively small set of genes account for 75% of bilateral anophthalmia cases, yet 25% of families currently are left without a… read more here.
Keywords: development; mouse; eye; analysis ... See more keywords