Ocular Albinism: Treatment, Cost and Side Effects

Ocular Albinism is a condition in which there is deficiency of the pigment melanin in the iris and retina. This lack of pigmentation results in reduced sharpness of vision resulting in difficulty in reading and driving. There is also an increased level of sensitivity towards bright light and glare. They also cannot judge depth properly and suffer from weak stereoscopic vision. In many cases the patients are also diagnosed with ocular albinism also suffer from the condition of nystagmus, which is a condition of rapid involuntary eye movement.

Ocular albinism occurs commonly in males and is a genetically inherited condition. It is a X – linked recessive gene condition that arises due to the mutation of the GPR143 gene present in the X – Chromosome. The defects in vision due to ocular albinism are present from birth itself. However, the severity does not increase as the person grows up but remains at same level as at the time of birth. Unlike other forms of albinism, ocular albinism does not affect other parts of the body like skin or hair. Although the person may have a slightly fairer skin due to deficiency in melanin pigment but the difference is barely noticeable. The treatment is geared towards the correction of these problems by means of corrective spectacles and lenses and in rare cases through surgeries

The diagnosis for ocular albinism is done through molecular genetic testing of the GPR143 gene for the presence of mutation. In case a mutated stream is identified, the family is advised to do an annual checkup at the ophthalmologist regularly. Children below sixteen years should have quarterly consultation with the ophthalmologist for detection of any anomalies.

The treatment of ocular albinism is geared towards correcting the deficiencies for better clarity in vision and these corrective measures very rarely involve surgeries. Doctors recommend corrective spectacles and lenses for such conditions as these help in reducing the effects of these defects. Additionally dark lenses are recommended for countering high sensitivity to bright light and glare. However in case of nystagmus and strabismus you can go for surgery if you want. The surgeries for nystagmus do not require any major incisions and can be performed under local anesthesia. Usually the procedure involves aligning the null point of the eyes with the straightforward vision of the person. The null point refers to the point where the eyes have the least movement and maximum vision. Another way the surgeries are performed is by loosening or tightening the eye muscles which is also followed for strabismus surgeries.

If anybody in your family hierarchy was diagnosed previously with mutations in the GPR143 gene in the X - chromosome then you should consult with ophthalmologist to see if you are suffering from ocular albinism. Usually there is no timing for treating this condition as once identified you have to go for corrective procedures like lenses for gradual improvement. You can go for surgeries anytime any time also after consulting your ophthalmologist

While there are no sided effects if you use corrective lenses, there can be some complications in case you undergo surgery for Strabismus or Nystagmus. Apart from the common risk of post operative infection there can be certain side effects depending on whether you have any other eye related problems. For instance, if you are highly myopic then there are chances that you may have scleral perforations or if the eyes have some misalignment still remaining after surgery then you may face the side effect of Diplopia or double vision. Though these side effects are possible but their occurrence is very rare.

In case you have opted for corrective lenses and spectacles then there are no special things to take care of and you can easily continue with your daily lives. However in case of surgeries there are some additional precautions you have to take. You should ideally use dark glasses and an eye shield to protect the eye, which was operated. Additionally, do not splash water into the eye. Clean the eye as per instructions of the doctor and avoid applying cosmetics like eyeliner, etc. for a few weeks during recovery. Apart from that avoid strenuous activities like working on laptops, driving, etc. that put a strain on the eyes for 2 – 3 weeks or till the ophthalmologist does not permit you to.

In case of corrective procedures like lenses or spectacles there in no impact on your daily lives at all although the effects of the treatment will show up gradually over the course of months and years. However, you may need 1-2 weeks to recover from surgeries.

Usually periodic consultations cost around Rs. 500 – 1,000 while surgeries for Nystagmus or Strabismus costs around Rs 15000 -20000

For the surgeries of Nystagmus and Strabismus the results are immediate and permanent . However, for corrective procedure like spectacles and lenses though the results are permanent they happen gradually over the course of months and years

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