The initial diagnosis of inherited sight loss often begins with discussions with your GP or an optician. You might express concerns about your eyesight to these professionals and they will seek more specialist support to make an informed diagnosis of your condition. Typically you will then be referred to an eye consultant (called an ophthalmologist) so testing and diagnosis confirmation can take place at a hospital or eye clinic.
Sometimes an optician will be able to identify the signs of some forms of inherited sight loss from routine eye examinations; modern eye tests include examination of the view of the back of the eye (called the fundus). The optician cannot make a formal diagnosis, but will refer to someone who can. Although you are then typically referred to an eye consultant, your relationship with your optician should be maintained as they continue to play an important role in screening for health issues. Your optician will not automatically be provided with a report about your condition from your consultant so you should ensure you inform them yourself.
Another area that an optician will be able to help you with is with access to low vision aids. To assess your needs they will discuss activities such as reading, household tasks, light glare, travel, the workplace, television viewing, school requirements and hobbies and interests.
In the UK, opticians can be either ophthalmic opticians (called optometrists) 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 inherited sight loss, they may help to detect the onset of glaucoma or cataracts, again referring to specialists when necessary.
After referral your GP will be updated about your eye condition by your eye consultant, writing letters about their assessment of your condition. These letters inform the GP so 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.
When you see your GP after diagnosis, you may have questions. Although you may have been given an explanation of your condition at the eye clinic, you may have thought of more since that time. It may be possible for your GP to answer general questions but for more specific issues, a further referral to the clinic may be required. Don’t be afraid to insist on this, as you are entitled to answers. Alternatively, a letter from the GP to the consultant may of help.
Once you understand that your eye condition is genetically determined, you may become concern about it affecting other family members. Genetic counselling can assist in the understanding of inheritance patterns and how some members of a family are affected but others are not.