Ocular albinism is a very rare disease and its prevalence is about 1: 50000. Most of the problems associated with ocular albinism are due to a decrease in the visual acuity of the affected eye usually involving both eyes. There have been various syndromic associations to be found with ocular albinism like chediak higashi syndrome, hermansky pudlak syndrome etc. and are associated with an increase in the mortality of the people suffering from this disorder. There is a possibility of mortality with ocular albinism also due to the defect of visual acuity and related roadside accidents also.
In a patient suffering from chediak higashi syndrome along with ocular albinism, there are chances of development of a malignancy especially related to lymphoid tissue and can result in increased susceptibility to the infections because of the weakened immune system.
Can You Die From Ocular Albinism?
A patient suffering from ocular albinism in association with hermansky pudlak syndrome are at risk of dying with excessive bleeding because of the associated platelet disorder. There can also be heart failure due to the restrictive cardiomyopathy, respiratory problems due to restrictive lung disease, metabolic disorders due to abnormal renal function, and associated gastrointestinal problems like inflammatory bowel disease. These all are the risk factors and morbidity indicators which can also lead to an increase in mortality in patients suffering from ocular albinism.
There is an increased risk of skin cancers due to the non-formation of melanin, especially in the tropical regions due to a higher amount of sun exposure on equatorial regions as compared to temperate or polar regions.
How Do You Stop Ocular Albinism From Spreading?
Ocular albinism is a hereditary condition and not an infectious disease that can spread from one person to another. There is no risk of spreading contradictory to common perception as supported by some useless myths that it can spread by seeing or other spreading ways. However, even the genetic conditions can get inherited if the association of the mutation is strong enough to get propelled to the next generation. There are few ways by which it can be prevented and the next progeny can be saved from such diseases.
First of all consanguineous marriages should be avoided at all costs because ocular albinism is an autosomal disease when found in relation to syndromes and is an X linked disorder when finding as singularly which gets accumulated if the blood relatives are married to each other because they both carry the genetic defect and it becomes easier for a genetic disease to pass on to next generation.
Another way of stop this disease to happen is prenatal genetic testing. The DNA of the embryo or the fetus can be checked by a variety of testing techniques like amniocentesis, chorionic villus sampling etc. One should consider this if the family is also suffering from the disorder and there is a high possibility because of the parents suffering from it. It can be done before the fetus crosses 20 weeks of age and if the genetic defect is found then the fetus could be aborted by the consult and permission of a registered as well as a certified obstetrician.
Yes, there is a risk of dying with ocular albinism because of its association with rare but fatal genetic syndromes that effects other organ systems of the body. The most common associations are chediak higashi syndrome and hermansky pudlak syndrome. In tropical regions, there is a higher ratio of sun exposure which can lead to various skin cancers and ultimately mortality can increase in albinism patients.
Since the ocular albinism is a genetic condition, it does not spread via infectious ways but spreads via reproduction in the upcoming generations. Consanguineous marriages should be avoided to reduce the risk of accumulation of mutations in the next generation. Prenatal genetic testing is also helpful in reducing the prevalence of ocular albinism.
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