Can Blindness Be Inherited? Genetic Risks and Prevention

Can complete blindness be inherited?

Hello Dr.
Huang,
I have a question.
My boyfriend's second sister has been completely blind since birth, and I am concerned that our future children might also have a similar condition.
Is this condition hereditary? How can we prevent it? Can a pre-marital health check detect this?
Thank you for your response.

Best,
Pei
7/17

Pei, 20~29 year old female. Ask Date: 2003/07/17

Dr. Huang Jianxun reply Obstetrics and Gynecology

First, it is essential to clarify whether your aunt's complete blindness has a hereditary component in order to determine if it may be passed on.
Therefore, we should start by reviewing your aunt's medical history and consult with an ophthalmologist at a medical center.

Reply Date: 2003/07/17

More Info

Blindness can indeed have a genetic component, and understanding the risks associated with hereditary blindness is crucial for prospective parents. The inheritance of blindness can occur through various genetic mechanisms, including autosomal dominant, autosomal recessive, and X-linked inheritance patterns.
In the case of autosomal dominant conditions, only one copy of the mutated gene from an affected parent can lead to the condition in the offspring. Conversely, autosomal recessive conditions require both parents to be carriers of the mutated gene for their child to be affected. X-linked conditions are typically passed from carrier mothers to their sons, who are more likely to express the condition due to having only one X chromosome.

Given that your boyfriend's sister is blind, it is essential to determine the underlying cause of her blindness. Conditions such as retinitis pigmentosa, Leber congenital amaurosis, and other hereditary eye diseases can be inherited. If the cause of her blindness is known to be genetic, it would be prudent to assess whether your boyfriend is a carrier of the same genetic mutation.

To evaluate the risk of passing on genetic conditions to your future children, genetic counseling is highly recommended. A genetic counselor can provide insights into the specific condition affecting your boyfriend's sister, discuss the inheritance patterns, and suggest appropriate genetic testing. If the condition is known to be inherited, testing can help determine if your boyfriend carries the gene mutation.

In terms of prevention, while you cannot change genetic predispositions, understanding the risks allows for informed family planning. If both parents are carriers of a recessive condition, there is a 25% chance with each pregnancy that the child will be affected. In such cases, preimplantation genetic diagnosis (PGD) during in vitro fertilization (IVF) can be an option to select embryos without the genetic condition.

As for prenatal screening, non-invasive prenatal testing (NIPT) can assess the risk of certain genetic conditions during pregnancy, but it may not cover all hereditary blindness conditions. More comprehensive testing, such as amniocentesis or chorionic villus sampling (CVS), can provide definitive answers but comes with its own risks.

In summary, while there is a possibility of hereditary blindness, understanding the specific genetic risks associated with your boyfriend's family history is key. Engaging with a genetic counselor can provide clarity and help you make informed decisions regarding family planning and potential genetic testing. This proactive approach can help alleviate concerns and prepare you for any necessary steps to ensure the health of your future children.

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