Ocular albinism is a form of albinism that affects only the eyes. The cause is a reduction in melanin in the eye, which is essential to allow the retina to develop at its best and to protect the eye from light. Symptoms of this condition are, first, a hypersensitivity to light, and then nystagmus (uncontrolled eye movements) and squint . In addition, the reduction in vision that occurs in subjects suffering from albinism cannot be completely resolved using a simple pair of glasses. In any case, to find out more, you can consult specialized sites such as https://www.essiloritalia.it/la-tua-vista/difetti-visivi/l-albinismo
How ocular albinism works
As already mentioned, the cause of ocular albinism is an absence or reduction of melanin in the eye. Melanin is a pigment produced by melanocytes, and is generally present in the iris and retina as well . If one of the genes containing the information necessary for melanin production is mutated, then you have albinism. Generally, the mutated gene is passed on to males from their mother who has a modified gene on the X chromosome. In fact, male subjects have only one X chromosome, and if they were to inherit the mutated one from their mother, they would develop albinism. In the f emines, on the other hand, the X chromosomes are two, therefore, inheriting a mutated gene they would not also inherit albinism, but would become healthy carriers , able in turn to transmit ocular albinism to their children. In the case of ocular albinism, the retina is almost transparent , and the fovea (the central area of the retina that allows to delineate the finest details) is not formed or is only partially formed, as well as the optic nerve , the organ responsible for the transport of visual stimuli to the part of the brain capable of processing them.
Diagnosis of ocular albinism
Ocular albinism may or may not be linked to skin abnormalities. In the latter case, the symptoms concern only the sight and the skin, the hair and the hairs do not appear much lighter than normal, as happens, however, in subjects suffering from oculocutaneous albinism . It is essential to understand this problem in the first years of a child’s life, in order to act immediately. To diagnose ocular albinism , the child’s history is collected and continued with instrumental tests, such as computed tomographyto check for changes in the retina. It is a radiation-free laser that allows specialists to obtain high-resolution images of the patient’s retina. To confirm this, genetic tests are then carried out to demonstrate the mutations of the genes that produce melanin.
How ocular albinism is treated
Currently , there is no cure available that can definitively resolve the problems associated with ocular albinism. Scholars are trying to understand possible effects of gene therapies or drug therapies with targeted research. However, by using some special lenses and computer devices designed specifically for the visually impaired, it is possible to achieve improvements. In addition, it is necessary to pay particular attention not to damage the sight even more with some precautions. In fact, it is necessary to avoid direct sunlight by applying sun screens with a very high protection factorand always using sunglasses and protective clothing, such as a hat with a visor when the sun is very strong.