The initial diagnosis of RP very often begins with discussions with your GP or an optician. You might express concerns about your eyesight to these professionals and they then seek more specialist support to make a full diagnosis of your condition. Typically you will then be referred on to an eye consultant (ophthalmologist) so testing and diagnosis can take place at a hospital or eye clinic.
Sometimes, an optician will be able to identify the signs of retinitis pigmentosa from routine eye examinations. Modern eye tests will include examination of the fundus (the view of the back of the eye – the retina) and your optician will be able to see the clumping pigmentation that indicates RP. He or she cannot make a formal diagnosis, but will refer you on. Although you are then typically referred to an eye consultant, your relationship with your optician should be maintained. Opticians continue to play an important role in screening for health issues and ensuring that you are dispensed with a suitable lens prescription, if appropriate. Your optician will not automatically be provided with a report about your RP from your consultant so if you agree that this is necessary this is something you will need to arrange directly.
Another area that an optician will be able to help you with, probably at a later stage, is with access to low vision aids. To assess your needs he or she will discuss functional problems with you, including such things as reading, in the kitchen, glare problems, travel vision, the workplace, television viewing, school requirements, and hobbies and interests.
In the UK, opticians can be either ophthalmic opticians (optometrist) or dispensing opticians. An optometrist deals more in depth with eye health than a dispensing optician. They should have the ability to diagnose and treat visual disorders or diseases that can arise. For example, for people with RP, they may help to detect the onset of glaucoma or cataracts, referring again to specialists when necessary.
General Practitioner (GP)
After referral, your GP will be kept updated in relation to your eye condition by the eye consultant writing letters about their assessment of your condition. These letters inform the GP so that they can assess the wider impact of your sight loss and identify with you any other needs you may have, to ensure you obtain the correct level of support to maintain your overall physical and mental health and wellbeing.
When you see your GP after diagnosis, there may be many questions waiting to be answered. Although you may have been given an explanation of RP at the eye clinic, the news that the condition cannot, at present, be treated may have blocked the assimilation of other information. It may be possible for your GP to answer general questions but for more specific issues, a referral back to the clinic may be required. Don’t be afraid to insist, as you are entitled to answers. Alternatively, a letter from the GP to the consultant may help.
Once you understand that your eye condition is genetically determined, you may become anxious about it affecting family. Genetic counselling, explained later in this pathway, can assist in the understanding of inheritance patterns. As research progresses, you will want to know if there is a test to determine which gene is responsible for their particular dystrophy. Your GP can now refer you to specialist centres with a genetic counselling service or to a geneticist.