نتایج جستجو برای: peters anomaly

تعداد نتایج: 42218  

Journal: :American journal of medical genetics. Part A 2007
Steven B Bleyl Janice L B Byrne Sarah T South David C Dries David A Stevenson Alan F Rope Angela M Vianna-Morgante Gary C Schoenwolf Jane D Kivlin Arthur Brothman John C Carey

We report on a mother and son affected with an unusual skeletal dysplasia and anterior segment eye abnormalities. Their skeletal phenotype overlaps with the SHOX-related skeletal dysplasias and is intermediate between Leri-Weill dyschondrosteosis (LWD) and Langer Mesomelic dysplasia (LMD). The mother has bilateral Peters anomaly of the eye and was reported as having a new syndrome; the son had ...

Journal: :Human molecular genetics 1997
H K Tang L Y Chao G F Saunders

Mutations in the human PAX6 gene produce various phenotypes, including aniridia, Peters' anomaly, autosomal dominant keratitis and familial foveal dysplasia. The various phenotypes may arise from different mutations in the same gene. To test this theory, we performed a functional analysis of two missense mutations in the paired domain: the R26G mutation, previously reported in a case of Peters'...

Journal: :The British journal of ophthalmology 1980
B E Frueh S I Brown

AIMS To assess retrospectively the prognosis and complications of corneal grafting for congenital opacities. METHODS Fifty eight eyes of infants and young children with congenital corneal opacities were studied retrospectively. Preoperative diagnoses included sclerocornea (27 eyes), Peters' anomaly (17 eyes), partial sclerocornea (12 eyes), and congenital glaucoma (two eyes). Penetrating kera...

Journal: :Development 2008
Yu Chen Yong-qiu Doughman Shi Gu Andrew Jarrell Shin-ichi Aota Ales Cvekl Michiko Watanabe Sally L Dunwoodie Randall S Johnson Veronica van Heyningen Dirk A Kleinjan David C Beebe Yu-Chung Yang

Cited2 is a transcriptional modulator with pivotal roles in different biological processes. Cited2-deficient mouse embryos manifested two major defects in the developing eye. An abnormal corneal-lenticular stalk was characteristic of Cited2(-/-) developing eyes, a feature reminiscent of Peters' anomaly, which can be rescued by increased Pax6 gene dosage in Cited2(-/-) embryonic eyes. In additio...

2014
Tsuyoshi Minami Kazuki Kuniyoshi Shunji Kusaka Koji Sugioka Hiroyuki Sakuramoto Masuo Sakamoto Akane Izu Norihisa Wada Yoshikazu Shimomura

PURPOSE To report our findings in an infant with Peters anomaly type II whose retinopathy of prematurity (ROP) was treated with an anti-VEGF agent and surgeries. CASE REPORT A male infant weighing 548 g was born prematurely at 23 weeks and 1 day with corneal opacity and shallow anterior chambers in both eyes. At the postmenstrual age of 35 weeks and 3 days, the infant was tentatively diagnose...

Journal: :Japanese journal of ophthalmology 2003
Kiyomi Ohkawa Shizuya Saika Yuko Hayashi Akihiko Tawara Yoshitaka Ohnishi

PURPOSE We examined histopathologically the anterior ocular segment including the cornea and lens of an eye which had been enucleated in a patient with Peters' anomaly because of untreatable corneal perforation. Special effort was made to differentiate the corneal stromal and endothelial cells, and the stromal extracellular matrix. METHODS Light microscopy, with hematoxylin and eosin staining...

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