Anophthalmia is defined as a complete absence of one eye or both the eyes,while microphthalmia represents the presence of a small eye within the orbit.The estimated birth prevalence for anophthalmia is approximately 3...
AIM:To evaluate volume differences between anterior and posterior orbit and demographic characteristics of Chinese patients with congenital microphthalmia.METHODS:A retrospective cohort study,involving 169 unilateral ...
We describe a female Nigerian infant of otherwise healthy parents with no prior history of congenital anomalies who was born with left-sided cleft lip and palate, left anophthalmia, malformed left auricle, an atrial s...
The microphthalmia(MiT)subfamily of transcription factors includes TFE3,TFEB,TFEC,and MITF.In the 2016 World Health Organization classification,MiT family translocation renal cell carcinoma(tRCC)including Xp11 tRCC an...
Supported by the National Natural Science Foundation of China(No.81271045;No.81470642);Shanghai Science and Technology Committee(No.15XD1502800)
We write to present a case report of Hallerrnann-Streiff syndrome (HSS; oculo-mandibulo-dyscephaly withhypotrichosis) with persistent pupillary membranes and cataract absorption.
Background: Sentinel lymph node biopsy is widely used in the management of melanoma patients. Multiple markers are used to stain sentinel lymph node tissue including S100, HMB-45 and melan A with different success. We...
This work was supported by Science and Technology Committee of Yunnan Province;the National Natural Science Foundation of China(Grant No.30021004).
Congenital microphthalmia is a developmental ocular disorder and might be caused by the mutations in the genes involved in eye development. To uncover the genetic cause in a six-generation Chinese pedigree with autoso...