​Optic Nerve Hypoplasia

Optic nerve hypoplasia is a congenital disorder (present at birth), whereby a child’s optic nerves have not developed sufficiently. The optic nerve is the nerve which transmits signals from the eye’s retina to the brain. This disorder may affect a child at varying levels of severity, and may be present in one or both eyes. Some of the children’s vision may be fairly functional, while other children may have no light perception, depending in how badly the optic nerve has been affected. Eye movement is also affected in some children, a condition known as nystagmus. However, a child’s vision does not deteriorate over time in this disorder.

There is no definite cause of optic nerve hypoplasia. It has been weakly associated with maternal diabetes or young maternal age, but this is true only for occasional cases. In some cases, optic nerve hypoplasia is also accompanied with underdevelopment of the hypothalamus, which is the part of the brain responsible for regulating basic body functions such as thirst, hunger, sleep, and body temperature.

Even though optic nerve hypoplasia is a congenital disorder present at birth, many signs and symptoms may not be obvious till childhood or even adolescence in some cases. In the infancy stages, you may notice abnormal eye movements in your child, a condition known as nystagmus.

As the child grows older, vision impairment become more obvious. In many cases, symptoms associated with underdevelopment of the hypothalamus may also be obvious, such as low levels of certain important hormones, which will become more obvious as the child grows older.

Problems with vision that will be observed include:

  • Poor depth perception, leading to inability to locate objects in space

  • Mild light sensitivity, leading to squinting, lowering the head, avoiding light, or resisting participation in outdoor activities

  • Lack of detail in vision

Some feeding issues, such as lack of interest in feeding, may also be apparent in children with hormonal problems accompanying optic nerve hypoplasia.​

If you suspect that your child’s vision is affected you must consult your child’ paediatrician. You will be able to tell if your child’s depth perception is affected, if you child is showing sensitivity to bright light, or if your child’s eye movements are abnormal. These symptoms must be immediately discussed with a qualified doctor. A referral to a Paediatric Ophthalmologist may be needed to confirm the diagnosis.

You can be assured of receiving the best quality medical care at The Aga Khan University Hospital. Our expert and highly trained staff at the Children’s Hospital Service Line at the Aga Khan University Hospital can provide you with additional information and medical advice. We have an internationally accredited staff with which you can safely and privately discuss your symptoms, gain advice and receive personalized treatment and care.​

Your time with your doctor may be limited, so make sure to prepare for your visit beforehand. Here are some tips to help get you started.

A number of eye tests are conducted to help with the diagnosis of optic nerve hypoplasia. Your child’s doctor will conduct a vision acuity test, as well as take a detailed medical history to note down characteristic symptoms and signs.

Imaging tests such as MRI (Magnetic Resonance Imaging) and CT (Computerized Tomography)  scan are also done to observe the optic nerves and blood tests may also be requested to check for any hormonal changes. 

Diagnosis of optic nerve hypoplasia may be difficult at first as the symptoms and findings of diagnostic tests may be similar to those of other disorders. You must follow through on the instructions given by your child’s doctor working with the Children’s Hospital Service Line at The Aga Khan University Hospital in carrying out the requested tests to help reach an accurate diagnosis.​

Treatment for optic nerve hypoplasia will involve the coordinated efforts of a team of healthcare professionals, including your child’s paediatrician, endocrinologist, neurologists, ophthalmologists and other healthcare staff. Our dedicated staff at The Aga Khan University Hospital works tirelessly to ensure that your child receives individualized treatment and care to provide relief from the symptoms.

Vision therapy, occupational therapy, and hormone replacement therapy are some treatment options to help your child manage symptoms of optic nerve hypoplasia. In some cases, patching the child’s stronger eye helps to force the weaker eye to improve vision, while in yet other cases, wearing spectacles may be useful. 

Early intervention will help your child get around and lead his/ her life in as practical a manner as possible. Patience and persistence in following through with recommended therapies can yield positive results.​

The Aga Khan University Hospital offers various support services to help with managing or recovering from the disease or condition. These include but are not limited to nutrition, physiotherapy, rehabilitation, specialized clinics and some patient support groups. Your doctor or nurse will advise you accordingly.

The Aga Khan University Hospital offers financial assistance to those who are in need and fulfil the eligibility criteria. For further information, you can contact the Patient Welfare Department. You can find the contact number of the Patient Welfare Department in the ‘Important Numbers’ section on the website homepage.

The financial counselling staff is available during office hours, at the main PBSD (Patient Business Services Department), to answer your financial queries on treatments’ costs and authorize admissions on partial deposit as per hospital policies allow. The financial counsellor in the emergency room is open 24/7. You can find the contact number of the Patient Business Services in the ‘Important Numbers’ section on the website homepage.​

Your doctor and or nurse will give you specific instructions about the prescribed medication. Please ensure that you take or use the prescribed medicine as advised. It can be dangerous to your health if you self-prescribe. Please inform the doctor or nurse beforehand if you have experienced any adverse reactions to any medications in the past. If you experience any symptoms of drug poisoning, overdose or severe reaction please contact the Pharmacy Service at The Aga Khan University Hospital immediately. You can find the contact number of the Pharmacy Services in the ‘Important Numbers’ section on the website homepage.

​​The information provided on our website is for educational purposes and not intended to be a substitute for medical advice, diagnosis or treatment. You should always seek the advice of your doctor or other healthcare professional provider.