These factors are ubiquitously expressed and it is proposed that defects in a ubiquitous factor (a protein expressed everywhere) should only cause disease in the retina because the retinal photoreceptor cells have a far greater requirement for protein processing (rhodopsin) than any other cell type.The somatic, or X-linked inheritance patterns of RP are currently identified with the mutations of six genes, the most common occurring at specific loci in the RPGR and RP2 genes.Types include:

Pathophysiology
A variety of retinal molecular pathway defects have been matched to multiple known RP gene mutations. Mutations in the rhodopsin gene (RHO), which is responsible for the majority of autosomal-dominantly inherited RP cases, disrupts the rhodopsin protein essential for translating light into decipherable electrical signals within the phototransduction cascade of the central nervous system. Defects in the activity of this G-protein-coupled receptor are classified into distinct classes that depend on the specific folding abnormality and the resulting molecular pathway defects. The Class I mutant proteins activity is compromised as specific point mutations in the protein-coding amino acid sequence affect the pigment proteins transport to the outer segment of the eye, where the phototransduction cascade is localized. Additionally, the misfolding of Class II rhodopsin gene mutations disrupts the proteins conjunction with 11-cis-retinal to induce proper chromophore formation.
As the child grows and develops, further surgery is usually required on the lower jaw and is often done in tandem with orthodontic treatments. Further treatment depends upon the symptoms of the individual patient and may include oral surgery, plastic surgery, audiological intervention to manage hearing loss, speech therapy, and surgery on the limbs to aid with mobility limitations. See also
Dermoid cyst

References


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