By Dr Peculiar Idiagbonya (OD)
When it comes to a child’s health, most people think about nutrition, environment, and lifestyle. Yet beneath all these factors is a powerful blueprint: genetics. For many paediatric eye disorders, the root cause lies in a child’s DNA. Understanding this genetic link is key to early diagnosis, effective management, and future treatments that can protect a child’s sight.
At SpecSMART Eye Clinic in Ikeja, Lagos, genetics is an important part of how children’s eyes are assessed and monitored.
Why genetics matters in children’s eyes
Every cell in the body contains DNA, a set of instructions inherited from both parents. These genes guide how the eye develops—from the clarity of the lens to the structure of the retina and optic nerve. When there is a change, or “mutation,” in a gene responsible for eye development, it can disrupt normal function and lead to a paediatric eye disorder.
The eye is one of the most complex organs in the body and relies on thousands of genes to form correctly. A defect in just one of these genes can affect vision from birth or early childhood.
Common paediatric eye disorders with strong genetic links
1. Congenital cataracts
Congenital cataracts are lens opacities present at birth or early infancy. In many children, they are caused by genetic changes that prevent the lens from forming clearly.
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If not detected and treated early, a dense cataract can block light from reaching the retina.
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This can lead to amblyopia (lazy eye) and permanent reduction in vision.
2. Retinal dystrophies (e.g. Retinitis Pigmentosa)
Retinal dystrophies are inherited diseases that cause gradual loss of the light‑sensitive cells at the back of the eye.
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Retinitis Pigmentosa (RP) is a well‑known example, often starting with night blindness and progressing to tunnel vision.
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RP can be caused by mutations in many different genes and may be inherited in autosomal recessive, autosomal dominant, or X‑linked patterns.
3. Paediatric glaucoma
Primary congenital glaucoma is a rare but serious condition in which a baby is born with an abnormal drainage system inside the eye.
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This leads to high intraocular pressure and damage to the optic nerve if not treated quickly.
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Signs include large or cloudy corneas, excessive tearing, and marked light sensitivity.
4. Strabismus and high refractive errors
Conditions like squint (eye misalignment) and severe myopia (short‑sightedness) or hyperopia (long‑sightedness) are often influenced by several genes working together, along with environmental factors such as near work and outdoor time.
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These conditions often run in families.
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If not managed early, they can lead to amblyopia or poor binocular vision.
The power of genetic testing and counselling
Genetic testing is playing an increasing role in paediatric eye care:
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Precise diagnosis: Testing can identify the exact gene mutation responsible for a child’s condition. This can reduce uncertainty and confirm a suspected diagnosis.
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Prognosis and management: Knowing the gene involved may help predict how quickly a disease could progress and whether specific treatments, such as emerging gene therapies for certain retinal dystrophies, might be suitable.
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Family planning: Genetic counselling helps parents understand the risk of having another child with the same condition and explains inheritance patterns in clear, practical terms.
While not every child needs genetic testing, it can be especially helpful when there is a strong family history or when multiple systems (eyes and body) are involved.
When to suspect a genetic eye problem
A comprehensive paediatric eye exam at SpecSMART Eye Clinic Ikeja is strongly recommended if any of the following apply:
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Family history: A parent, sibling, or close relative has conditions such as childhood cataracts, inherited retinal disease, early‑onset glaucoma, or unexplained severe refractive error.
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Consanguinity: Parents are closely related (for example, cousins), which increases the chance of recessive conditions.
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Known genetic syndromes: The child has a genetic condition like Down syndrome, Marfan syndrome, or others known to affect the eyes.
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Visible or behavioural clues:
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White reflection in the pupil (leukocoria)
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Constant eye shaking (nystagmus)
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Persistent eye misalignment or squint
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Poor visual response, frequent squinting, or bumping into objects
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At SpecSMART Eye Clinic Ikeja, the team combines a detailed family history with advanced tools such as Optical Coherence Tomography (OCT), retinal imaging, refraction, and binocular vision testing to monitor children at genetic risk and to catch problems early.
Taking action: protect your child’s genetic “gift of sight”
Genetics cannot be changed, but early detection and careful monitoring can make a huge difference to outcomes. Many genetic eye conditions can be treated, slowed, or carefully managed if they are picked up early in life.
If you have a family history of eye disease, notice unusual signs in your child’s eyes, or simply want reassurance, a comprehensive paediatric eye exam is the best next step.
FAQs
What is a gene mutation?
It is a change in the DNA sequence of a gene. This can affect how that gene works and may lead to disease if it disrupts a critical function in the eye.
What is the difference between “congenital” and “inherited”?
“Congenital” means a condition is present at birth. “Inherited” means it has been passed down through genes from one or both parents. Many paediatric eye conditions are both congenital and inherited.
How is genetic testing done for eye disorders?
Most tests use a blood sample or saliva swab. The DNA is analysed in a specialist laboratory to look for mutations in genes known to be linked with eye diseases.
Can genetic eye disorders be cured?
Many genetic eye conditions are currently managed rather than cured, using glasses, low‑vision support, surgery, or monitoring. However, gene therapy and other advanced treatments already exist for a few specific retinal conditions and are an area of active research.
What is amblyopia, and how does genetics fit in?
Amblyopia (lazy eye) is reduced vision in an eye that did not develop normal
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Refrences
Adapted from current clinical and scientific literature on genetic eye disease and paediatric ophthalmology, including work on congenital cataracts, inherited retinal dystrophies, paediatric glaucoma, and the use of genetic testing and counselling in children’s eye care.