![]() ![]() It is a hole that affects this part of the eye and the vast majority of cases are congenital. Another rare disease is the coloboma of the iris. Although it usually a genetic condition, it can also be caused by trauma. The most common symptoms are low vision, glare and photophobia. Aniridia also affects the iris and is defined as the absence of it. This genetic condition results in a decrease in pigment, which is why people who suffer from it have blue eyes and present nystagmus, decreased visual acuity and photophobia. Ocular albinism is another genetic disease that affects the eyes, specifically the iris. There is also partial achromatopsia, popularly known as color blindness. This affectation is due to the alteration of the cones, the photoreceptor cells of the retina. Achromatopsia is a congenital disease that only allows the perception of white, black, gray colors and their shades. Its development is manifested by a progressive decrease in vision that affects both eyes. Choroideremia is a hereditary eye disease that begins to become visible in the first or second decade of life and affects the choroid and retina. Other genetic pathologies that affect the retina are choroideremiaand achromatopsia. Vision loss is progressive but most of those affected do not have their peripheral vision impaired. For a person to suffer from it, both parents must be carriers of the affected gene, which is why the probability of suffering from the disease in these cases is 25%. Another genetic pathology that affects the retina is Stargardt's disease. Its prognosis is almost always continuous visual loss and it especially affects men (80-90% of cases). This is the case of Leber's optic atrophy, a disease that affects the retina and with a complex diagnosis. Many rare eye diseases are genetic, which is why it is difficult to find a cure. Taking into account that most of these diseases do not have a specific treatment, their early diagnosis becomes the best ally to reduce their impact on the health of the people who suffer from them. The lack of information available for its correct diagnosis and subsequent treatment is the greatest obstacle that both patients and professionals must face. Although rare eye diseases have a low prevalence in the population, they can have a great impact on affected individuals. ![]()
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