What's the medical term for being born without a macula?

I met someone who was found to be without a macula. Is there a medical term for this? I could only find macula dystrophy, which doesn’t seem to be the same. Is it possible to be born without one, or is it more likely to have been there at first, then lost?

The person seems to be able to see quite well, they can read subtitles on TV, which seems better than severe myopia.

Congenital macular dystrophy is probably as close a term as you are looking for.

While “dystrophy” might be any abnormality of growth, complete absence would still be lumped under that.

I assume you are looking at variants such as Best or Stargardt’s…as with any medical condition, the possibilities are legion and sometimes the translation from the specialist to the patient leaves a little to be desired…

I should add the technical answer to your questions is, “macular agenesis” although I have never heard of it and do not know whether or not it has been described.

That term would mean the macula never developed in the first place.

‘Immaculate’.

Oh ok thanks, because I couldn’t find anything on it, so I was wondering if it is very rare, or even possible to be born without a macula.

Derleth - haha, do those 2 words have common roots?

Yes, they have the same root, in that immaculate came from macula.

Immaculate
Macula

Macular hypoplasia we use for patients, such as those with albinism, that lack a true anatomical pit of the fovea.

What does it mean to be “without a macula”? The macula is the central part of the retina. I am sure your friend’s retina still has a center. Is he lacking the cone cells that are normally found there? If that were so, his vision would be severely compromised (As is that of people who suffer from macular degeneration; but that usually happens, if it does, late in life.) It is possible to be born without functioning cone cells, and (I am fairly sure) without functioning L and M cone cells, most of which are normally to be found in the macula, but again, this would lead to seriously compromised vision. Your friend would not be able to see “quite well” and it is very unlikely that he would be able to read subtitles. In any case, it wold be odd to describe these conditions as being “without a macula”.

Could it be that he lacks the yellow pigment that normally covers and more or less defines the macula, but still has a reasonably normal distribution of receptor cells in the central regions of the retina? (This condition, if it exists, might be an aspect of the macular hypoplasia mentioned by cromulent, since that is apparently associated with albinism.)

Oh boy…talk about being Facebook-ized. I loved this and went to hit “Like” before I realised I couldn’t.

njtt - curious, isn’t it? They don’t seem to be colorblind or albino, and their vision is much better than expected. Can’t find any mention of this condition.

Keep in mind that albinism can exist in ocular-only forms, and people with this condition won’t look any different from you or I.

Does this person have nystagmus?

I was going to go with Amaculate conception, but I’m too late.

They do! Is that a symptom of albinism?

Yes, nystagmus is associated with albinism.

Does ocular-only albinism just mean that they are missing the yellow macular pigment, or is there more to it?

Hmm the Wiki page on albinism says “This degenerate RPE causes foveal hypoplasia (a failure in the development of normal foveae), which results in eccentric fixation and lower visual acuity, and often a minor level of strabismus.” Which sounds like the person’s situation. However, it doesn’t seem very common, and the Wiki page http://en.wikipedia.org/wiki/Macular_hypoplasia only has 2 lines.

It’s both a lack of the retinal pigment epithelium (which is essential in terms of the healthy development of the fovea) and a decreased density of receptor cells at the foveal area, along with a disappearance of normal foveal architecture.