Genetic testing for ocular coloboma
نویسندگان
چکیده
منابع مشابه
Severe congenital ocular coloboma
Congenital ocular colobomas are the result of a failure in closure of the embryonal fissure. They are important causes of childhood visual impairment and blindness. A 22 year old female patient with no particular history complaining of blurred vision of left eye; Visual acuity of the left eye is limited to counting finger; examination of the anterior segment was unremarkable. At fundoscopy, a l...
متن کاملWhite sponge naevus and ocular coloboma.
White sponge naevus occurred in association with coloboma of the iris in six members of one family, across three generations. The association of these two dominantly inherited conditions has not to our knowledge previously been described.
متن کاملDeficient FGF signaling causes optic nerve dysgenesis and ocular coloboma.
FGF signaling plays a pivotal role in eye development. Previous studies using in vitro chick models and systemic zebrafish mutants have suggested that FGF signaling is required for the patterning and specification of the optic vesicle, but due to a lack of genetic models, its role in mammalian retinal development remains elusive. In this study, we show that specific deletion of Fgfr1 and Fgfr2 ...
متن کاملOcular hypotony secondary to spontaneously ruptured sclera in choroidal coloboma.
whole-body 18F-fluoro-2-deoxyglucose PET (FDG-PET) scan revealed 2 isolated hypermetabolic foci in the left upper pulmonary lobe and the left hilum, while the eye lesion was not detected (Figure 3). The patient received a short course of radiotherapy to the right eye. An upper-left lung lobectomy was performed and confirmed a primary adenocarcinoma (2 cm diameter; T1 N2 M1, stage IV). A chemoth...
متن کاملOcular coloboma: a reassessment in the age of molecular neuroscience.
Congenital colobomata of the eye are important causes of childhood visual impairment and blindness. Ocular coloboma can be seen in isolation and in an impressive number of multisystem syndromes, where the eye phenotype is often seen in association with severe neurological or craniofacial anomalies or other systemic developmental defects. Several studies have shown that, in addition to inheritan...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The EuroBiotech Journal
سال: 2017
ISSN: 2564-615X
DOI: 10.24190/issn2564-615x/2017/s1.09