In the mouse Pax6 function is critical in a dose-dependent manner for proper eye development. Pax6 contiguous gene deletions were previously shown to be homozygous lethal at an early embryonic stage. Heterozygotes express belly spotting and extreme microphthalmia. The eye phenotype is more severe than in heterozygous Pax6 intragenic null mutants, raising the possibility that deletions are funct...

Microphthalmia is characterized by abnormally small eyes and usually retinal dysplasia, accounting for up to 11% of the blindness in children. Right now there is no effective treatment for the disease, and the underlying mechanisms, especially how retinal dysplasia develops from microphthalmia and whether it depends on the signals from lens ectoderm are still unclear. Mutations in genes of the ...

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...

In mouse follicular melanocytes, production of eumelanins (brown-black pigments) and pheomelanins (yellow-brownish pigments) is under the control of two intercellular signaling molecules that exert opposite actions, alpha-melanocyte-stimulating hormone (alphaMSH) which preferentially increases the synthesis of eumelanins, and agouti signal protein (ASP) whose expression favors the production of...

OBJECTIVES To report a case of prenatally diagnosed fetal cataract and conduct a systematic review of previously reported cases. METHODS Review of the literature based mainly on Pubmed search using specific keywords in order to list cataract causes diagnosed prenatally and in early childhood, isolated or associated with microphthalmia. RESULTS AND DISCUSSION A differential diagnosis list an...

MicroRNAs (miRNAs) are endogenous small non-coding RNAs that play crucial roles in numerous biological processes. However, the role of miRNAs in skin color determination in fish has not been completely determined. Here, we identified that 13 miRNAs are differentially expressed between red and white skin. The analysis of miRNA spatial and temporal expression patterns suggests that miR-429 is a p...