ARMD - Age Related Macular Degeneration

[Eeyore]

I'm working on a theory of ME, and it suggests that patients with ME would be at greater risk for the development of age related macular degeneration. I emphasize this is, right now, just a hypothesis, and no one should be worrying about this.

My question is basically whether or not you have ARMD in your family (and if you know which kind, wet or dry, please list). If you do not, please say that too. Also, if you have it yourself, and if any relatives who have it also have ME or what may be ME-related disease.

It does run in my family.

@Valentijn - I know you aren't ready to do much analysis yet, but I wonder if there is any overrepresentation of ARMD snps in the ME population?

 

[justy]

My daughter who is only 21 has degenerative cells in one eye and she is ill, but undiagnosed still.

 

[Valentijn]

@Valentijn - I know you aren't ready to do much analysis yet, but I wonder if there is any overrepresentation of ARMD snps in the ME population?

I haven't compared numbers, but yes, I frequently see rare pathogenic mutations for ME patients regarding late-onset eye disorders. Some are on the same SNPs, but mostly not, I think. As with most adult- or elderly-onset disease, there usually isn't a 100% chance of pathology with the SNPs I have looked at closer, which can make the research a bit harder to interpret.

Do you have any specific genes in mind? At this point it would be easiest for me to search our 23andMe data for those, or for rs numbers.

 

[Eeyore]

I don't actually - but I can probably get a list of SNPs. I am not so sure it's a single gene effect, more like a common pathway leading to both.

I'll explain better if it turns out there's anything to it that is worth explaining!

 

[Valentijn]

Oh, and I don't think there are any serious eye problems in my family.

 

[Valentijn]

I did a search in my notes for: vision, macular, retina, eye, choroid, ciliary, cone, conjunctiva, cornea, iris, lens, optic, pupil, rod, sclera, ocular, oculus, glaucoma

That brought of the following results, some at <=10%, and some at <= 1%. The first set of results is probably more inclusive, but the 2nd set in parentheses comes with controls:
VSX2 rs8009522 1 homozygous, 5 hetero (2 hetero in 31 patients, 3 hetero in controls)
BFSP2 rs11708694 1 homozygous, 4 hetero (1 homo + 4 hetero in 31 patients, 1 hetero in controls)
FAM161A rs4270331 1 homozygous (1 homo in 12 patients, 1 hetero in 18 controls)
USH2A rs17658056 1 homozygous, 3 hetero (1 hetero in 31 patients, 2 hetero in controls)
USH2A rs301748 1 homozygous, 5 hetero (4 hetero in 31 patients, 4 hetero in 31 controls)
RSPH6A rs36073277 1 homozygous (1 homo + 5 hetero in 31 controls, 3 hetero in controls)
PLG rs4252129 1+ Homozygous, 5 total - Missense mutation, 83.1% likely pathogenic (1 homo + 1 hetero in 31 patients, 2 hetero in controls)
AGBL1 rs12900523 1 homozygous (0 in 31 patients, 1 homo + 1 hetero in controls)
COL24A1 rs34589269 1 homozygous and spontaneous, hetero for others (7 homo + 7 hetero in 31 patients, 4 homo + 5 hetero controls)
OPA1 i5004291 rs166850 - 4 homozygous, 9 heterozygous (2 homo + 11 hetero in 31 patients, 8 hetero controls)
CYP1B1 rs9341256 2 heterozygous (0 in 31 patients, 0 in controls)

 

[Eeyore]

Thanks @Valentijn - Annoying that of that list, my 23andme v4 chip only has 2 of the results. I can probably impute the rest but it would be nice to not have to!

Nothing is really jumping out as significant, perhaps the BFSP2, but could easily be coincidence.

 

[ahmo]

I appear to have all those listed above except one, all homozygous.

1 grandmother w/ glaucoma, no other eye disease in the family.

@Eeyore If you use Firefox, there's an addon called snptips that highlights the rs numbers you have when you are on a page that lists them. so for me, in the list Val posted above, all but one of the rs numbers is highlighted in green. Makes it very easy to see without looking things up.

 

[Eeyore]

I'm using it - and only 2 are green in valentijn's list (23andme v4)

 

[mermaid]

Actually my mum is being treated right now for AMD (wet sort) but she is 93 so she's done pretty well.

I know it's not the same thing but I had a macular hole when I was 57 and often wondered if it was related to my ME/CFS though no one seems to think there was a link. It's fairly unusual though, and most people who get it tend to be older than that.

 

[AndyPandy]

@Eeyore you might have seen me mention macular degeneration yesterday in another post.

According to 23andme and promethease, I have the genetic potential for macular degeneration and glaucoma. My mother had dry MD and glaucoma and my father's side of the family had glaucoma.

I haven't searched for the SNPs mentioned by @Valentijn above.

I have epiretinal membrane and early development of cataracts. My glaucoma eye pressure varies close to a diagnosis.

I get my eyes checked regularly due to these issues and diabetes.

Best wishes, Andy

 

[wastwater]

I have bilateral iris progressive atrophy and plenty of glaucoma in family

 

[Eeyore]

My grandmother had very bad glaucoma and ARMD (wet). She had no vision in one eye by the time she died (at 86, so not too bad). I don't have glaucoma nor do I have ARMD - and my parents don't either (yet) - but we're at increased risk based on genetics (23andme).

 

[Marco]

Grandmother had glaucoma and my eyesight (close vision) has deteriorated incredibly from 20/20 in the last 5 years but at my age (50's) that's hardly surprising.

 

[Eeyore]

Yeah @Marco, that sounds like presbyopia, which is universal. No one keeps the close vision as they age. So far so good for me, but I'm in my 30's.

My vision is 20/20 in each eye still, but the doctor has noted what could be early signs of pigmentary glaucoma (transillumination defects). He said it's very rare to see it in someone with my vision - it's usually found only in high myopes.

 

[Little Bluestem]

I was diagnosed with dry ARMD at 50, which is rather young. The optometrist can see the drusen, but I do not not have any symptoms.

My mother was diagnosed with the same after I was, so much older. She was having mild symptoms. Her dementia has progressed to the point that it is not possible to know what is causing her diminished vision now.

 

[Mel9]

I was diagnosed with dry ARMD at 50, which is rather young. The optometrist can see the drusen, but I do not not have any symptoms.

My mother was diagnosed with the same after I was, so much older. She was having mild symptoms. Her dementia has progressed to the point that it is not possible to know what is causing her diminished vision now.

Yesterday my optometrist found drusen in both my eyes. I am not a smoker. My mother, who is a smoker , has macular degeneration.

 

[wastwater]

Complement factor I
https://medlineplus.gov/genetics/ge...9Uoqlf68SEhVpPsLp9haCmkesQ5e4iSQOg#conditions