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Retinitis pigmentosa and its effect on the quality of life

Retinitis pigmentosa and its effect on the quality of life

Retinitis pigmentosa and its effect on the quality of life:

On one fine day in our ophthalmic clinic, a father comes with his twenty-eight-year-old boy holding his hands and slowly making him sit on our chair. He said his boy can’t see clearly since childhood and he is about to lose his current job due to his progressive illness and also his brother, sister and mother had similar issues. Father who is a social worker himself, a sixty-five-year-old fine gentleman, got us thinking about the burden he had to bear considering his whole family is about to become blind with some time.

Retinitis pigmentosa (RP) belongs to a group of inherited retinal dystrophies mainly affecting the photoreceptor cells (rods and cones) and retinal pigment epithelium. RP remains one of the most common retinal degeneration leading to early disability in younger adults. Many population-based studies have indicated a relatively higher prevalence of RP, both in the rural (1 in 372) and urban (1 in 930) settings in India compared to the western populations (1 in 3000–1 in 7000). It is mainly due to more incidence and strong family history of consanguineous marriages in Indian populations. A typical RP patient presents in the second decade of life with nyctalopia (night blindness), constricted visual fields, and reduced visual acuity (VA) due to retinal degenerative changes that affect the optic nerve and retinal arteries. RP is a gradually progressing disease that restricts an individual’s social and economic performance due to visual disability.

Amount if illness and clinical presentation is variable due to the genetic heterogeneity of the disease.

RP is a genetic disease that people are born with. Symptoms usually start in childhood, and most people eventually lose most of their sight.

Ophthalmologists can diagnose RP as part of a comprehensive dilated eye exam. The examination is simple and painless. The doctor will give you some eye drops to dilate your pupil and then check your eyes for RP and other eye problems. The exam includes a visual field test to check peripheral (side) vision.

These cases are commonly associated with other abnormalities such as refractive error, keratoconus, pre-senile cararact, etc.

Currently, there is no cure available for retinitis pigmentosa. Vitamin A supplementation can slow the progression of the disease but have to be taken with caution due to its effects on the liver. Saying that, it is very important to find and address treatable problems such as refractive errors, cataract, etc, and visually rehabilitate patients to the extent possible. It is also important to increase awareness among populations about the disease and to screen the family members of affected patients. Prevention can be in terms of creating awareness and counseling about consanguineous marriages. In our population, we need to address this challenge in terms of genetic counseling, genotyping, and future risk occurrence, which is lacking in our part of the world due to accessibility and affordability issues.

RP is a blinding condition as the disease progresses with age. Hence, genetic counseling, rehabilitation services, and career counseling to support any individual with RP are to be strengthened in rural India.

Also, low vision rehabilitation services form an important part of patient’s treatment care and early diagnosis and referral to such institutions should be done. It’s also very important for people with RP to get regular eye exams. That way, the eye doctor can keep track of symptoms and help find the right treatments.

RP is linked to many different genes and can be inherited in different ways. If you have RP, you can talk with your doctor or a specialist called a genetic counselor to learn more about your risk of passing RP to your children. Without awareness, it’s quite a burden to the affected families as the quality of life of not just patients but also their guardians get affected significantly.

Currently, researchers in the world are studying gene therapies, cell therapies, and new medications as experimental treatments that may become standard treatments in the future.

Dr Yogini

Obstetrics & Gynaecology

Dr. Yogini Patil
Consultant – Obstetrics & Gynaecology

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