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What is Megalocornea?
Written by Medicover Team and Medically Reviewed by Dr Gargi Apte Jankar , Ophthalmologists
Megalocornea is a rare eye condition present at birth, where the cornea, the clear front surface of the eye, is unusually large but remains transparent. Most cases do not affect early vision, and eye pressure stays normal.
It typically affects both eyes and is more common in males, sometimes occurring with other eye abnormalities or inherited conditions.
Megalocornea is a rare, congenital eye condition where the cornea is abnormally large, typically over 13 mm in diameter, yet remains clear and structurally healthy. It usually affects both eyes and does not cause elevated intraocular pressure, helping to distinguish it from childhood glaucoma.
The condition is most often inherited in an X-linked recessive pattern, making it more common in males. Though vision is often normal, some individuals may develop complications like lens dislocation, early cataracts, or nearsightedness.
Regular eye exams are important to monitor any changes and manage potential issues early.
Who Does Megalocornea Affect?
Megalocornea mainly affects males, due to its X-linked recessive inheritance. It is typically diagnosed in infancy or early childhood. In rare cases, it can also occur in females, especially in sporadic or autosomal forms. The condition may exist alone or be part of a genetic syndrome or connective tissue disorder.
What are the Types of Megalocornea?
Megalocornea can be classified based on its cause and association with other conditions:
Primary Megalocornea
This is the isolated form of the condition, characterised by an enlarged cornea (typically greater than 13 mm in diameter).
- It is usually present at birth and remains stable throughout life.
- The cornea remains clear, and intraocular pressure is normal.
- Most individuals have normal vision, though regular monitoring is advised.
- Inheritance is often X-linked recessive, which means it primarily affects males.
Secondary Megalocornea
This type is associated with other ocular or systemic disorders and may involve additional complications.
- It can be a feature of congenital glaucoma, Marfan syndrome, or Ehlers-Danlos syndrome.
- There may be increased intraocular pressure, corneal clouding, or structural abnormalities.
- Treatment focuses on managing the underlying condition to prevent vision loss.
What are the Causes of Megalocornea?
Megalocornea is most often a genetic condition and can be either inherited or occur sporadically. Key causes include:
- Genetic Inheritance:
- Most cases follow an X-linked recessive pattern, affecting mainly males.
- It can also be inherited in autosomal dominant or recessive forms, though these are rare.
- Developmental Abnormalities: Abnormal development of the anterior segment of the eye during fetal growth may lead to an enlarged cornea.
- Associated Syndromes: Megalocornea can be linked with systemic or ocular conditions such as:
- Marfan syndrome
- Alport syndrome
- Ehlers-Danlos syndrome
- Down syndrome (in rare cases)
Understanding the cause helps determine whether the condition is isolated or part of a broader syndrome.
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Get Second OpinionWhat are the Symptoms of Megalocornea?
Megalocornea symptoms can range from mild and manageable to more serious, especially if associated with other eye conditions. Here's a clear distinction:
Common Symptoms
These are typically present in isolated (primary) megalocornea:
- Enlarged, clear corneas (diameter >13 mm)
- Normal intraocular pressure
- Mild light sensitivity (photophobia)
- Normal or slightly blurred vision
- The deep anterior chamber of the eye
These symptoms often do not significantly interfere with daily life and may go unnoticed unless a comprehensive eye exam is conducted.
Severe Symptoms
These may occur in secondary megalocornea or when complications develop:
- Lens dislocation (ectopia lentis) causes blurred or distorted vision
- Early-onset cataracts
- Glaucoma due to secondary pressure changes
- Significant visual impairment
- Eye strain or frequent changes in glasses prescription
Severe symptoms require prompt medical evaluation to prevent long-term vision problems.
How Is Megalocornea Diagnosed?
Diagnosing megalocornea involves a combination of clinical examination, specialized eye tests, and ruling out other conditions that may appear similar. Here's how it is typically assessed:
Clinical Evaluation
An ophthalmologist will begin with:
- A thorough medical and family history
- Slit-lamp examination to assess corneal clarity and structure
- Measurement of corneal diameter (typically greater than 13 mm in megalocornea)
- Evaluation of anterior chamber depth, lens position, and eye pressure
Diagnostic Tests
- Keratometry or corneal topography to measure corneal size and curvature.
- Pachymetry to assess corneal thickness.
- Tonometry to measure intraocular pressure and rule out glaucoma.
- Ultrasound biomicroscopy may be used to visualize the anterior eye structures.
- Genetic testing may be considered if a syndromic cause is suspected.
- Refractive testing (visual acuity, prescription evaluation) to assess vision changes.
Differential Diagnosis
To avoid misdiagnosis, doctors rule out other conditions with similar features:
- Congenital glaucoma involves increased eye pressure, corneal clouding, and optic nerve damage
- Keratoglobus causes thinning and outward bulging of the cornea, not uniform enlargement
- Buphthalmos, an enlarged eye often linked to childhood glaucoma
- Megalophthalmos anterior includes enlargement of all anterior eye structures, not just the cornea
What are the Treatment Options for Megalocornea?
Medical Care and Vision Support
Megalocornea often doesn't need direct treatment, but regular eye care is essential.
- Glasses or contact lenses can correct blurry vision caused by refractive errors.
- Eye drops or medications may be used if problems such as high eye pressure or glaucoma develop.
- Surgery may be needed in rare cases, such as when the eye's lens shifts or early cataracts form.
Non-Medication Approaches
Supportive care can help manage symptoms and protect eye health.
- Regular eye checkups help catch any changes early.
- Protective glasses can prevent eye injuries, especially in children.
- Vision aids may help if eyesight becomes weak.
- Simple eye exercises can help improve focus in young children.
Care for Different Age Groups
Treatment depends on the person's age and overall health.
- Children need close monitoring as their eyes grow and develop.
- Adults with genetic conditions like Marfan or Alport syndrome may need care from other specialists, too.
- Female carriers in families with X-linked cases may need genetic advice, even if they don't have symptoms.
Personalised care ensures the best outcomes for individuals with this rare condition, particularly when complications are detected and treated early.
When to See a Doctor for Megalocornea?
If you notice unusually large or prominent eyes in your child or experience visual changes, it's essential to seek medical advice. While megalocornea is often harmless, early evaluation helps detect and prevent complications.
You should see an eye doctor if there is:
- Persistent blurry vision or difficulty focusing
- Sensitivity to light (photophobia)
- Frequent vision prescription changes
- Eye discomfort, redness, or visible swelling
- A known family history of megalocornea or genetic eye disorders
Prompt diagnosis supports better long-term eye health and vision outcomes.
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Prevention and Complications of Megalocornea
While megalocornea itself cannot be prevented since it is usually present from birth, regular eye checkups can help detect and manage related issues early.
Can It Be Prevented?
- There is currently no known way to prevent megalocornea, especially if it is inherited.
- Genetic counselling may help families understand the risk of future pregnancies.
- Early screening in children with a family history is advised.
Possible Complications
If left unmanaged, megalocornea may lead to:
- Lens dislocation (ectopia lentis)
- Early-onset cataracts
- Refractive errors (blurred vision from focusing problems)
- Glaucoma, in rare cases
- Visual impairment if complications go untreated
Routine follow-up care is crucial for preventing long-term vision problems.
Our Experience Treating Megalocornea
At Medicover Hospitals, we provide specialised care for patients with megalocornea through a compassionate and expert-driven approach. Our ophthalmology team is skilled in recognizing the early signs of this rare condition and uses advanced tools to ensure accurate diagnosis.
We prepare each treatment plan tailored to the patient's specific needs, whether it involves managing refractive errors, monitoring for lens dislocation, or preventing glaucoma. Regular follow-ups, patient education, and family guidance are part of our commitment to long-term visual health.
With experience, technology, and a caring touch, we help individuals with megalocornea lead comfortable, clear-visioned lives.
