Congenital Achromatopsia- is also know as Inherited Achromatopsia, meaning it is present at birth. Congenital Achromatopsia is recessive and can apper in two forms, they are -
Rod Monochromatism: This is the most common form of Achromatopsia and is an autosomal recessive conditioninherited, meaning both parents carry a specipic set of genes but may not be shown in them directly. It can be caused by a defect in one of four genes. CNGA3 (ACHM2) and CNGB3 (ACHM3), which are ion channels that allow small electrically charged ions to enter or exit a cell. GNAT2 (ACHMA), which is expressed in photoreceptors, and PDE6C, a recently discovered gene which has linked to the formation of this particular type of Achromatopsia. These four genes account for 79% of all cases of Rod Monochromatism and play a major role in transmitting light signals from the cone cells to the brain.. Cone cells are present in the retna of the eye and are responsible for the sense of color and filtering light. When these cell no longer function properly an Acronat with Rod Monochromatism will have more difficulty prosessing, detecting or responding to light, and have more severe light sensitivity than an Achromat with any other type.
Blue Cone Monochromatism: Blue Cone Monochomatism is a form of Incomplete Achromatopsia and is inherited on the X-Chromosome. It is the lesser common form of Achromatopsia affecting 1 in every 50,000 - 100,000 males and 1 in every 10,000,000,000 females. Acromats with this disorder retain blue rods and cones but have a significant loss in red and green cones. This condition is strongly associated with the chromosome Xq28 which can be found as a part of the X-Chromosome. Two genes are said to disrupt the red and green cones thus causing Blue Cone Monochromatism they are OPN1LW and OPN1MW.
OPN1LW stands for red cone pigment (opsin 1, long wave sewnsitivity) This gene is responsible for the creation of the red cones photoqigment, the chemical that lets the cones react and prosses long wavelengths like red. OPN1MW stands for (opsin 1 cone pigments medium wave length sensitivity) This gene is responsible for the creation of the green cones photoqigment, the chemical that reacts to medium wavelengths such as green.
Rod Monochromatism: This is the most common form of Achromatopsia and is an autosomal recessive conditioninherited, meaning both parents carry a specipic set of genes but may not be shown in them directly. It can be caused by a defect in one of four genes. CNGA3 (ACHM2) and CNGB3 (ACHM3), which are ion channels that allow small electrically charged ions to enter or exit a cell. GNAT2 (ACHMA), which is expressed in photoreceptors, and PDE6C, a recently discovered gene which has linked to the formation of this particular type of Achromatopsia. These four genes account for 79% of all cases of Rod Monochromatism and play a major role in transmitting light signals from the cone cells to the brain.. Cone cells are present in the retna of the eye and are responsible for the sense of color and filtering light. When these cell no longer function properly an Acronat with Rod Monochromatism will have more difficulty prosessing, detecting or responding to light, and have more severe light sensitivity than an Achromat with any other type.
Blue Cone Monochromatism: Blue Cone Monochomatism is a form of Incomplete Achromatopsia and is inherited on the X-Chromosome. It is the lesser common form of Achromatopsia affecting 1 in every 50,000 - 100,000 males and 1 in every 10,000,000,000 females. Acromats with this disorder retain blue rods and cones but have a significant loss in red and green cones. This condition is strongly associated with the chromosome Xq28 which can be found as a part of the X-Chromosome. Two genes are said to disrupt the red and green cones thus causing Blue Cone Monochromatism they are OPN1LW and OPN1MW.
OPN1LW stands for red cone pigment (opsin 1, long wave sewnsitivity) This gene is responsible for the creation of the red cones photoqigment, the chemical that lets the cones react and prosses long wavelengths like red. OPN1MW stands for (opsin 1 cone pigments medium wave length sensitivity) This gene is responsible for the creation of the green cones photoqigment, the chemical that reacts to medium wavelengths such as green.
Cerebal Achromatopsia: Cerebal Achromatopsia, also know as Acquired Achromatopsia, is caused when the Cerebal Cortex suffers severe trama or damage. The Cerebal Cortex is located in the back of the brain and is split up into two sections, the left and right Cerebal Hemispheres. They are responsible for motor skills, sensory analysis, and transmitting messages to other sections of the brain. Cerebal Achromatopsia is caused when the sensory section of the Cerebal Cortex is damaged resulting in comlete color loss and other visual issues.