(Source: Pterygium of the Conjunctiva and Cornea; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
Autosomal dominant inheritance: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.
Autosomal dominant mutation with reduced penetrance may lead to an affected individual exhibiting milder or no symptoms, indicating that factors other than the causative gene mutation may play a role in the manifestation of symptoms. In this case, these factors may include heat and dust.
The signs and symptoms of Pterygium of the Conjunctiva and Cornea may include:
(Source: Pterygium of the Conjunctiva and Cornea; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)
Pterygium of the Conjunctiva and Cornea is diagnosed on the basis of the following information:
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
The complications of Pterygium of the Conjunctiva and Cornea may include:
Complications may occur with or without treatment, and in some cases, due to treatment also.
Currently, Pterygium of the Conjunctiva and Cornea may not be preventable, if it is a genetic disorder.
Regular medical screening at periodic intervals with tests and physical examinations are recommended.
The following DoveMed website link is a useful resource for additional information:
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