Lakhasly

The eye is one of the most important vital organs in the human body, enabling the individual to interact with the outside world through vision.Shared environmental and genetic factors In some cases, diseases occur as a result of the interaction of genes with environmental factors, such as exposure to ultraviolet rays, which may increase the likelihood of diseases such as hereditary macular degeneration.Genetic diseases that affect the eye vary in terms of their impact and symptoms, and include, for example, retinitis pigmentosa, congenital retinopathy, Stargadt disease, age-related macular degeneration of a genetic basis, and corneal disorders and keratoconus.Genetic transmission patterns Genetic eye diseases are usually transmitted based on the inheritance pattern, including: Dominant inheritance: It is sufficient for an individual to carry one copy of the mutated gene to develop the disease, such as some forms of hereditary glaucoma.Recessive inheritance: The disease only appears if an individual inherits two mutated copies of the gene, one from each parent, as is the case with retinopathy pigmentosa.Sex-linked inheritance: transmitted through the sex chromosome (X or Y), and diseases linked to the X chromosome are often more common in males, such as sex-linked retinal dystrophy.Consanguineous marriage In some societies, consanguineous marriage increases the risk of transmitting genetic diseases of the eye, as the chance of meeting similar recessive genes carrying disease-causing mutations increases.Genetic diseases of the eye are health issues that combine medical challenges with genetic complexity, as they result from mutations in the genetic material (DNA) that are passed from one generation to the next or appear randomly as a result of acquired genetic changes.These diseases not only affect vision, but also have profound psychological and social effects on those affected, making dealing with them require great efforts at the individual and societal levels.Changes in genes responsible for eye functions Some genes are responsible for producing proteins necessary for the health of the retina, optic nerve, or lens.However, this delicate organ may be susceptible to many diseases that impede its basic function, including those resulting from genetic factors.This knowledge has provided promising opportunities for developing early diagnosis methods.3- Sex-linked: transmitted through the sex chromosomes, and often affect males more than females .2.3.4.5.6.

The eye is one of the most important vital organs in the human body,
enabling the individual to interact with the outside world through vision.
However, this delicate organ may be susceptible to many diseases that
impede its basic function, including those resulting from genetic factors.
Genetic diseases of the eye are health issues that combine medical
challenges with genetic complexity, as they result from mutations in the
genetic material (DNA) that are passed from one generation to the next or
appear randomly as a result of acquired genetic changes.
Genetic diseases that affect the eye vary in terms of their impact and
symptoms, and include, for example, retinitis pigmentosa, congenital
retinopathy, Stargadt disease, age-related macular degeneration of a
genetic basis, and corneal disorders and keratoconus. These diseases not
only affect vision, but also have profound psychological and social effects
on those affected, making dealing with them require great efforts at the
individual and societal levels.
With developments in the field of genetics and medicine, it has become
possible to accurately identify the genetic causes of these diseases. This
knowledge has provided promising opportunities for developing early
diagnosis methods. It has also opened new horizons for treating genetic
eye diseases through innovative techniques such as gene therapy, stem
cells, and biotransplantation.
These diseases are classified based on their genetic transmission pattern,
as they can be:
1- Dominant genetic diseases: transmitted when there is only one copy of
the affected gene.
2- Recessive genetic diseases: appear only when there are two copies of
the affected gene (one from each parent).
3- Sex-linked: transmitted through the sex chromosomes, and often affect
males more than females
.
Causes of Genetic Eye Diseases
The causes of genetic eye diseases are due to changes or mutations in the
genetic material (DNA) that affect the genes responsible for the normal
development and functions of the eye. The main causes of these diseases
include the following

1. Genetic mutations
   Genetic mutations occur when there is a permanent change in the DNA
   sequence, which leads to the production of abnormal proteins or the
   failure to produce proteins necessary for the proper function of the eye.
   Some of these mutations are inherited from parents, while others may
   occur spontaneously during fetal development.


2. Genetic transmission patterns
   Genetic eye diseases are usually transmitted based on the inheritance
   pattern, including:
   Dominant inheritance: It is sufficient for an individual to carry one copy of
   the mutated gene to develop the disease, such as some forms of hereditary
   glaucoma.
   Recessive inheritance: The disease only appears if an individual inherits
   two mutated copies of the gene, one from each parent, as is the case with
   retinopathy pigmentosa.
   Sex-linked inheritance: transmitted through the sex chromosome (X or Y),
   and diseases linked to the X chromosome are often more common in
   males, such as sex-linked retinal dystrophy.


3. Changes in genes responsible for eye functions
   Some genes are responsible for producing proteins necessary for the
   health of the retina, optic nerve, or lens. Any change in them may lead to
   diseases such as macular degeneration or hereditary cataracts.
   Changes in genes responsible for the eye's response to light, such as genes
   associated with rod and cone cells in the retina, may cause disturbances in
   night vision or color vision.


4. Shared environmental and genetic factors
   In some cases, diseases occur as a result of the interaction of genes with
   environmental factors, such as exposure to ultraviolet rays, which may
   increase the likelihood of diseases such as hereditary macular
   degeneration.


5. Consanguineous marriage
   In some societies, consanguineous marriage increases the risk of
   transmitting genetic diseases of the eye, as the chance of meeting similar
   recessive genes carrying disease-causing mutations increases.


6. New or random mutations
   Sometimes, genetic eye diseases may appear due to new mutations that
   occur for the first time in a child without a family history of the disease,
   known as “spontaneous mutations”.
   Conclusion
   The causes of genetic eye diseases are multiple and complex, and are often
   the result of a combination of genetic and environmental factors.
   Understanding these causes helps develop effective strategies for early
   diagnosis and appropriate treatment to reduce the impact of these
   diseases on the lives of those affected.
   Symptoms of genetic eye diseases
   The symptoms of genetic eye diseases vary depending on the type of
   disease, the genes affected, and the severity of the condition. Symptoms
   may appear early in life or develop gradually over time... The most
   important symptoms associated with genetic eye diseases:


7. Poor vision
   Difficulty seein