Craniofacial structures have an intimate relationship with the central nervous system in the embryologic development period and the developmental abnormalities of the face and skull that are frequently associated with malformations of the central nervous system. Additional intracranial and extracran...

We had described a prefabricated superficial temporal fascia island flap and used this technique in >50 enucleation patients with severe socket contraction ending in excellent or good results for 28 years (Altindas- 1 procedure). However, the flap was not suitable for the exenteration patients with...

We present the radiographic, ultrasound, and magnetic resonance imaging findings of a unique case of congenital cystic eye associated with dermal appendages and advanced intracranial congenital anomalies in a 3-month-old boy....

Microphthalmia ('small eye') and anophthalmia ('no eye') are rare congenital defects of eye development. Previous studies utilizing a variety of methodologies have estimated their combined incidence at anywhere from 4 to 30 cases per 100,000 live births. In Chuuk, Federated States of Micronesia, the...

We used two validated assays: the rat whole embryo culture and the murine embryonic stem cell test. Rat embryos cultured from gestational day 9.5 for 48 h with the drug showed dysmorphogenic development already at a concentration of 250 microg mycophenolic acid/l medium. At concentrations of 750 mic...

A 58-year-old man who had his left eye enucleated at the age of 26 after sustaining ocular trauma presented secondary to an inability to tolerate his prosthesis. Examination revealed upper and lower eyelid cicatricial entropion with areas of symblephara and conjunctival scarring causing forniceal sh...

The recurrent c.70del20 mutation accounts for 21% of all independent SOX2 mutations reported to date. Due to the increased use of clinical SOX2 testing, the frequency of SOX2 mutations identified in research A/M populations will likely continue to decrease. Mutations in SOX2 do not appear to be a co...

By analyzing a clinical case with inadequate surgery tactics in the use of an unstandard orbital implant, the authors discuss possible errors in surgical techniques and in the choice of an implant. Furthermore, by analyzing problems in the use of various implants, including those unstandard ones, th...

We postulated that mutations in this gene could lead to micro/anophthalmia, and thus performed molecular screening of its sequence in patients having micro/anophthalmia. Seventy patients having non-syndromic forms of colobomatous microphthalmia (n=25), isolated microphthalmia (n=18), or anophthalmia...