autosomal dominant neovascular inflammatory vitreoretinopathy

 

 

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What is ADNIV?

Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a hereditary disease caused by a mutated gene. As with many eye diseases the cause

of the mutation is unknown. This extremely rare disease is currently traced through only two ancestries in the entire world. There is no documented evidence of the disease prior to the late 1700s, and the first known generations of ADNIV were born in the United States. It is uncertain whether this disease ever did or does exist in other countries, but it seems that the United States is ADNIV's country of origin.

 

Autosomal dominant means that the disease is carried via a dominant gene and requires only one parent to pass it to the next generation. Each child's chance of getting the disease is a mere flip of a coin. ADNIV never skips a generation, though
a parent with ADNIV can pass the gene down to some, all, or none of their children.
If none of the children have ADNIV the inheritance is severed completely for that particular family. For an excellent visual representation of autosomal dominant inheritance watch this video on YouTube.

 

ADNIV is a complex, progressive eye disease that actually mimics several common
eye diseases, including: uveitis, retinitis pigmentosa, glaucoma, macular degeneration, proliferative diabetic retinopathy and proliferative vitreoretinopathy. Some people carry the CAPN5 mutated gene that causes ADNIV and never show symptoms their entire lives. In fact, onset of symptoms can occur at any point during a person's lifetime. While one person may show onset of symptoms as late as their late 70s, there is actually one known case of ADNIV where the patient exhibited very poor eyesight and symptoms of eye disease from birth.

 

The key word is mimic. ADNIV has several characteristics that are, by themselves, separate eye diseases, and it can disguise itself as one disease, or show symptoms
of many diseases simultaneously over time. For this reason, the Rosetta Stone reference is often used to describe complex diseases such as ADNIV. The Rosetta
Stone was inscribed in multiple languages. Likewise, medical scholars often describe
a combination eye disease, such as ADNIV, as a process of decoding similarities between known and unknown variables. Because this disease is so rare, it is not well known to the public. In fact, because many doctors – even retinal specialists – are unfamiliar with ADNIV, they are unlikely to decode the individual or multiple diseases that exist and render a single diagnosis of ADNIV.

 

Think about how absolutely no two snowflakes are identical. The same is true of ADNIV. While snowflakes look the same from a distance, only close scrutiny can determine the differences. People who have ADNIV have similar problems such as ocular inflammation, cataracts, retinal degeneration and new, unusual blood vessels that form in the eye. Such problems advance at different rates, resulting in onset at varying ages. The rarity of this disease can also make it difficult for an ophthalmologist to make the correct diagnosis. In fact, a 26-year study of identical twins proved exactly that. Though identical twins have identical DNA, the disease presented itself differently for each of the twins – from onset to severity and progression of the disease. There is simply no textbook example of ADNIV.

 

Why Should I Care?

What if you have ADNIV and you don’t know it? This disease could be a part of your ancestry. It is not just the "Jackson family disease", "Erbaugh curse", or the "Huntley blindness". This disease could also be your family's disease, because it spans well over two centuries in time and has afflicted two separate ancestries, reaching far deeper and broader than anyone could imagine. If you carry the gene that causes ADNIV and you have corrective surgery – such as LASIK or cataract surgery, where adoctor cuts into your eye – you will, in fact, activate the ADNIV and begin the process of loss of sight. Any serious irritation or infection of the eye can also activate the disease.

 

ADNIV is a combination of ALL of the serious eye diseases rolled together, occurring simultaneously over time. If doctors and researchers can decode the mystery of ADNIV they could, in turn, be able to cure or more effectively treat all serious eye diseases by preventing blindness altogether.

 

You can find a full visual and written description of the stages of ADNIV by doing a simple Internet search for "stages of ADNIV".