Book Reviews Livres nouveaux · Buchbesprechungen Stephen L. Bosniak (ed) Complex Socket Deformities Advances in Ophthalmic Plastic and Reconstructive Surgery McGraw-Hill Medical Publ.. Nürnberg 1992. IX+ 310 pp. ISBN 0–07–105383–2 The actual contributions are introduced by a reprint of Kennedy’s important paper (Trans Am Ophthalmol Soc 1964;62:469–510). He summarized the international knowledge...

Background: Sex determining region Y box transcription factor 2 (SOX2) mutations lead to bilateral anophthalmia with autosomal dominant human inheritance. SOX2 could result in severe ocular phenotypes usually associated variable systemic defects. Most patients described syndrome possessed de novo this gene.
 Case Presentation: In case report, we describe brothers mental retardation and cau...

The neural-related genes Sox2, Pax6, Otx2, and Rax have been associated with severe ocular malformations such as anophthalmia and microphthalmia, but it remains unclear as to how these genes are linked functionally. We analyzed the upstream signaling of Xenopus Rax (also known as Rx1) and identified the Otx2 and Sox2 proteins as direct upstream regulators of Rax. We revealed that endogenous Otx...

Inherited anophthalmia was observed in the progeny of a female rat irradiated with 50 R of X-irradiation at 17 days of age. Observations on the inheritance of the condition indicated that this anophthalmia can be considered as the result of polygenic factors with incomplete penetrance.

PURPOSE Describe the socio-demographic characteristics of anophthalmic patients examined at specialized centers of four cities in Colombia to know the different causes of eyeball loss. METHOD A transversal retrospective study was done of 511 medical records from the specialized practices of four cities in Colombia. Socio-demographic data of patients who were seen between January 2011 and Dece...

OBJECTIVE To investigate the geographical variation and clustering of congenital anophthalmia and microphthalmia in England, in response to media reports of clusters. DESIGN Comparison of pattern of residence at birth of cases of anophthalmia and microphthalmia in England in 1988-94, notified to a special register, with pattern of residence of all births. Three groups studied included all cas...

NHERITANCE of eyelessness in mice has been discussed in a previous I paper (CHASE 194zb) in which the method of analysis was the crossing of the inbred eyeless strain with other strains. The present study considers another method suggested a t that time, involving a control of modifiers. This was made possible by a reverse mutation toward normal eyes in the eyeless strain. From the mutant indiv...