The REINFORCED PLASTIC - group of hereditary disturbances, in which disorders of visual receptors (hinges and cones) or setchatochnyj a pigment epithelium (RPE) retinas lead to progressive visual losses. The defective people at first test the defective adaptation to darkness or gemeralopiju (gemeralopija), accompanied by waist of peripheric visual field and, ultimately, losses of the central vision late during illness.

Symptoms

 The maculation setchatochnogo an epithelium of a pigment with pigmentation spikuly bones is typically pathognomonic for retinis pigmentosa. Other eye signs include wax pallor of an optic disk, the cystic edema of maculae, and a back subcapsular cataract reduced setchatochnyj a vessel, cellophane maculopathy.

The diagnosis

 The diagnosis of the REINFORCED PLASTIC is necessary on the documentation progressive losses as a visual receptor an electroretinographia (ERG) and visual trial in field Conditions. The mode of inheritance of the REINFORCED PLASTIC is spotted by family history. At least 35 various genes or the centers, as is known, cause not syndromic REINFORCED PLASTIC. DNA testing well on the clinical warrant for RLBP1 (the autosomal recessive, REINFORCED PLASTIC of type of gulf of Bothnia), RP1 (an autosomal majorant, RP1), the CORRELATION FACTOR FOR PLURALITY (an autosomal majorant, RP4), RDS (an autosomal majorant, RP7), PRPF8 (an autosomal majorant, RP13), PRPF3 (an autosomal majorant, RP18), CRB1 (autosomal recessive, RP12), ABCA4 (autosomal recessive, RP19), and RPE65 (autosomal recessive, RP20). The molecular genetic testing is accessible To all other genes on the basis of examination only.

 The REINFORCED PLASTIC can be inherited in an autosomal majorant, autosomal recessive, or fashion X-linked. REINFORCED PLASTIC X-linked can be or recessive, damaging first of all only men, or a majorant, damaging and men and women though women always cause more softly. Some digennye and mitohondrialnye shapes also have been featured. The genetic reference depends on the exact diagnosis, definition of a mode of inheritance in each family, and effects of the molecular genetic testing. The REINFORCED PLASTIC united with progressive deafness, term as a syndrome of the Door-keeper.

Genetics

 In 1989, the Rhodopsin mutation, a gene which plays the basic part in a visual stage of a transduction, has been identified. Till now, it is more than 100 mutations have been found in this gene, making 15 % of any type setchatochnoj degenerations. The majority of those mutations - the mutation bound to losses and inherited mainly in a dominating fashion.

Treatment

 Now there is no treatment for a retinitis pigmentosa though scientists prolong to explore possible treatment. The future treatment can involve setchatochnye grafts, artificial setchatochnye implants, genoterapiju, stvolovye cells, alimentary additives, and-or medicinal therapies.