Some Eye Diseases in Children May Have Genetic Origins Even Without a Family History

Some eye diseases that emerge in children may be linked to genetic factors even when there is no similar disease history in the family. Experts point out that vision problems starting particularly at an early age should not be evaluated solely as refractive errors, while emphasizing the importance of assessing the child's eye examination findings, developmental process and family history together.

Batıgöz Sağlık Grubu Balçova Cerrahi Tıp Merkezi Eye Diseases Specialist Op. Dr. İsmail Diri states that some eye findings that emerge during childhood may be associated with genetic diseases, noting that the absence of a similar disease in the family does not completely eliminate the possibility of a genetically originated disease.

Noting that genetic changes may in some cases appear for the first time in the child, Diri points out that due to different inheritance patterns, some genetic diseases may be carried through previous generations without producing a notable finding.

A family history may not be present in every genetic eye disease
Genetic eye diseases do not consist of a single disease group. Numerous diseases that can affect the retina, cornea, lens, optic nerve and other structures of the eye may be associated with genetic factors.

Congenital and developmental cataracts, some types of glaucoma that occur congenitally or in childhood, hereditary retinal diseases, albinism, aniridia, some optic nerve diseases and retinoblastoma are among the diseases that may be associated with genetic factors.

Op. Dr. İsmail Diri, noting that family history is important but not determinative on its own, states the following:

“The fact that the same disease is not seen in the family does not mean that a genetically originated eye disease cannot be found in the child. Inheritance patterns can differ from one another. While some genetic changes may be carried by the mother or father without causing a notable disease, some may appear for the first time in the child. Therefore, the evaluation should look not only at family history but also at the child's eye examination findings.”

Children may not always be able to express vision problems
Recognizing vision problems during childhood can be more difficult compared to adults. Young children may not be able to express the difference in their vision levels or may accept their existing vision levels as normal.

For this reason, some behaviors and changes that families observe during daily life can provide important clues for eye examination. Involuntary trembling in the eyes, noticeable sensitivity to light, misalignment of the eyes, difficulty noticing objects or faces, difficulty seeing at night or in dim environments, difficulty distinguishing colors and visual development progressing differently from peers are among the findings that need to be evaluated.

Diri states that these symptoms alone do not indicate a genetic disease but that their causes need to be investigated:

“Symptoms such as eye trembling, noticeable light sensitivity, strabismus or differences in visual behaviors in children are not indicators of a genetic disease on their own. However, the cause of these findings needs to be determined. Detailed eye examination is the first step in determining which children need further examination.”

Some diseases may show symptoms from birth
The time at which genetically originated eye diseases emerge can vary according to the type of disease. While some diseases show symptoms from birth, others may be noticed in the later years of childhood.

Depending on the eye structure affected by the disease, visual acuity, color perception, night vision or visual field can be affected in different ways. It is particularly important that visual development is closely evaluated in eye diseases that begin congenitally or in early childhood.

Since childhood is a critical period during which the visual system continues its development, early recognition of structural or functional problems in the eye is important for determining the nature of the disease, establishing a follow-up plan and supporting visual development.

Genetic testing is not routine for every child
One of the most frequently asked questions by families when an eye problem is observed in children is whether genetic testing is necessary. According to experts, genetic tests are not a screening method applied routinely for every child experiencing an eye problem.

In the first stage, a detailed eye examination needs to be performed, the child's medical and family history needs to be evaluated, and a genetically originated disease needs to be suspected. Depending on the examination findings and the suspected disease, further eye examinations or, in suitable patients, genetic evaluation may come onto the agenda.

Genetic examinations can, in some cases, contribute to clarifying the diagnosis, understanding the inheritance pattern of the disease and evaluating possible risks for family members.

Op. Dr. İsmail Diri, stating that the decision for genetic testing should be made after a comprehensive evaluation, uses the following statements:

“The decision for genetic testing is not made by looking at a single symptom alone. The child's examination findings, the age of onset of the disease, family history and the suspected disease must be evaluated together. In cases deemed necessary, the process can be planned together with medical genetics specialists. The key point here is not to perform genetic testing on every child, but to correctly determine which child may need genetic evaluation.”

Family history is an important clue
The presence in the mother, father or close relatives of serious vision loss starting in childhood, congenital cataract, early-onset glaucoma, hereditary retinal disease or vision problems of unexplained cause is among the information that should be shared with the physician when evaluating the child.

However, the absence of a known eye disease in the family does not reduce the importance of regular eye examinations. Especially in recognizing vision problems that emerge in early childhood, parents' observations and regular eye check-ups complement each other.

Op. Dr. İsmail Diri, noting that eye examination in children is not merely about measuring visual acuity, completes his remarks as follows:

“In childhood, the aim is not just to measure how much the child sees. The structural development of the eyes, whether the two eyes work together, and whether visual development appropriate for the age continues are also evaluated. Family history is an important guide in this evaluation; however, it is not the only criterion.”