Thus, CYP1B1 may contribute to the ability of RGCs to respond to stress/injury through internal or external signaling mechanisms possibly mediated through bioactive metabolites.Ĭorneal dystrophies (CDs) are a group of genetic ocular diseases caused by abnormal substance accumulation in the cornea leading to a significant vision loss in some patients. showed that absence of Cyp1b1 alone in a murine model is not sufficient to alter the visual function but does increase the retinal ganglion cells (RGC) susceptibility to axonopathy following pressure elevations. The protein belongs to the cytochrome p450 enzyme family and is involved in the metabolism of a variety of substrates, including steroids and retinoids that can act as morphogens during development ( Choudhary et al., 2004) but its role in the eye is unknown Amirmokhtari et al. Most patients with PCG caused by mutations in CYP1B1 have a severe disease phenotype. ![]() CYP1B1, which is the most common causative gene in PCG harbors more than 140 distinct mutations that have been reported among various ethnic backgrounds ( Li et al., 2011). PCG can be autosomal recessive or sporadic. Primary Congenital Glaucoma (PCG) is caused by abnormal development of the trabecular meshwork and the anterior segment of the eye ( Francois, 1980 Edward and Bouhenni, 2011 Li et al., 2011). All of which has provided insight on important aspects of clinical and research related to ocular diseases caused by genetic mutations including glaucoma, cornea, nystagmus, myopia, and retina. This editorial summarizes the contribution of 16 original research papers, 1 brief research report and 1 review paper from some leading laboratories in this Research Topic. In addition, the mechanisms of development of ocular disease for identified genetic mutations are not fully understood. These molecularly unresolved IRDs are simplex/multiplex or autosomal recessive. Many genetic mutations associated with ocular diseases such as the inherited retinal diseases (IRD) remain to be discovered. ![]() The devastating effects of these diseases are substantial as they are often associated with several comorbidities leading to a poor quality of life. Hereditary eye diseases affecting ocular cells and tissues are caused by mutations encoding many different signaling and structural proteins.
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