Macular Dystrophies
Macular dystrophies are a large number of rare, inherited conditions that affect central vision. They can appear in childhood, but some are not diagnosed until later in life (late onset)
⚫ Macular Dystrophy symptoms
Juvenile macular dystrophies affect people in different ways. As your dystrophy progresses, your ability to see clearly will change. Everyone’s diminished eyesight is relative to themselves.
⚫ Macular Dystrophy diagnosis
Most people are diagnosed with a juvenile dystophy after visiting an optician who identifies a potential problem. They will be then referred to the nearest hospital eye centre or department.
⚫ Prognosis
As of yet. There is no treatment or cure but several bodies are working on it. If you do want to help with this, please see the Macular Society. I often share their posts and they really do need help with funding research.
⚫ Stargardt disease
Stargardt disease is a genetic condition caused by a tiny alteration in a single gene. The most common of these conditions. Uncommon to cause total blindness.
⚫Bestrophinopathies
This is a group of five related macular conditions caused by mistakes or mutations in a gene called BEST1. Some people never progress from the earliest stage of the disease 20/40 and will maintain 20/40 or better in both eyes.
⚫ Cone Dystrophy
There are various ways in which cone dystrophy is inherited but it is most commonly described as ‘sporadic’.
⚫ Doyne honeycombe dystrophy
Doyne honeycomb dystrophy is a dominant condition. It’s uncommon for it to cause total blindness.
⚫ Sorsby Fundus
dystrophy
Sorsby fundus dystrophy is extremely rare and not thought to cause total blindness.
⚫ Pattern dystrophy
Pattern dystrophy is a dominant macular dystrophy, usually occurring later in life. This is not thought to cause total blindness.
⚫ Bull’s eye maculopathy
Bull’s eye maculopathy describes a number of different conditions in which there is a ring of pale-looking damage around a darker area of the macula. This isn’t know to cause total blindness.
⚫Pseudoxanthoma elasticum
Pseudoxanthoma elasticum or ‘PXE’ is a disease that affects many parts of the eye. In some cases can cause blindness.
Now, whilst I’ve not had a genetic test to find out which gene is involved with my dystrophy yet, you will have noticed that I refer to Stargardt disease which is the most common of the Dystrophies.
They are testing me to find out why my peripheral vision is compromised, as it shouldn’t be with the diagnosis I first had in 2015.
About 1 in 10,000 people have an genetic eye dystrophy of some sort.
One Vision Blog 