منابع مشابه
White 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 کاملSevere 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 کاملOcular findings in linear sebaceous naevus syndrome.
The case of a 5-month-old black female child with a linear sebaceous naevus syndrome and multiple congenital anomalies is presented. Ocular malformations consisted of colobomatous changes of the lid and retina, dermoid of the conjunctiva, chorioretinal changes, and peripapillary atrophy of the optic nerve. Systemic findings included midline cleft of the secondary palate with involvement by the ...
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 کاملMutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts
Ocular coloboma results from abnormal embryonic development and is often associated with additional ocular and systemic features. Coloboma is a highly heterogeneous disorder with many cases remaining unexplained. Whole exome sequencing from two cousins affected with dominant coloboma with microcornea, cataracts, and skeletal dysplasia identified a novel heterozygous allele in MAB21L2, c.151 C>G...
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: Archives of Disease in Childhood
سال: 1991
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.66.4.514