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PaperclipPerfector  8mo ago (text post)   28890 thread views

Culture War Roundup for the week of March 11, 2024

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unless you really screw the pooch and end up with albinism.

please elaborate

Albinism doesn't have negative effects on IQ, but the lack of melanin can fuck up the eye. And as med school processors love to say, the eye is an extension of the brain, from a developmental and anatomical standpoint.

https://eyewiki.aao.org/Albinism

Iris transillumination: The iris in albinism has little to no pigment to screen out stray light coming into the eye. On slit lamp exam, the examiner may detect speckled or diffuse transillumination defect. This finding, while common with albinism, is not specific as iris transillumination occurs in diseases unrelated to albinism such as pseudoexfoliation, pigment dispersion syndrome, megalocornea, iris atrophy, and Axenfeld-Rieger spectrum [7]. When present in an otherwise normal individual, this finding may indicate carrier status of a hypomelanotic gene mutation. The iris may be translucent and the margin of the crystalline lens may be visible on transillumunation during slit lamp examination.

Pendular nystagmus: Nystagmus refers to rhythmic, involuntary, conjugate eye movement. Affected infants may have large amplitude with low frequency pattern of eye movement starting at 2-3 months of age, later changing to a pendular form without distinct fast or slow phases. Eye muscle surgery may be considered to reduce nystagmus.

Foveal hypoplasia (absence of a foveal pit): In albinism, the retina does not develop normally before birth and in infancy because of inappropriate retinal pigment epithelium (RPE) pigmentation that is required for macular development. Optical coherence tomography (OCT) can demonstrate an absence of the foveal pit and the loss of normal thinning of the retina. Also, the foveal avascular zone is small or nonexistent with vessels crossing the area 2 disc diameter temporal to the optic disc margin. Foveal hypoplasia is the single most important contributor to poor vision in albino patients. [7]

Abnormal decussation of the visual pathways: Normally about half of optic nerve fibers from each eye decussates at the optic chiasm to the contralateral side, contributing to stereopsis. Albinism is associated with fiber over-decussation, resulting in crossing of up to 90% of fibers to the contralateral side and thus strabismus and loss of stereopsis. Evidence of this abnormality can be detected by 3-lead visual evoked potential (VEP) for proper counseling regarding visual potential of a patient.

Strabismus: Misalignment of the eyes and related anomalous head tilt can occur in association with albinism. Kumar et al reported that the strabismus is seen in higher proportions of those with albinism compared to those with idiopathic infantile nystagmus, suggesting different mechanisms underlying the cause of strabismus in the two disorders. [8] Photophobia: Sensitivity to bright light and glare can occur due to scattering of light within the eye. Patients may prefer to wear sunglasses to reduce their sensitivity to light. Refractive Errors: Both myopia and hyperopia can occur, and astigmatism is very common. Poor vision: Vision can range from normal for those minimally affected to legal blindness or worse (vision less than 20/200) for those with more severe forms of albinism. Near vision is often better than distance vision. Generally, those who have the least amount of pigment (i.e. most severely affected) have the poorest vision.

What I'm getting at is that if you modify phenotypes too much, then you can get subtle knock-on effects, and in this case, you don't have to go full albinism. But we have examples of happy, healthy and functional people with very high IQs, so there are enormous gains to be made with conservative approaches before you start to make painful tradeoffs (like the recent reports of a family in Ireland with a mutation that gives them 20 IQ points extra but causes blindness in their 20s).

You can make the average person much smarter and not have negative consequences.

(like the recent reports of a family in Ireland with a mutation that gives them 20 IQ points extra but causes blindness in their 20s).

thanks, interesting. Is it possible in principle to make a chimera with mutant allele in one brain hemisphere but normal allele in another?

I did some googling on ablinism and intelligence and there's some publications that say that albinism increases intelligence and/or some educational skills (might be explained by that children with albinism spend more time indoors).

In principle? Why not. Or at least I see nothing that categorically rules it out.

I don't imagine this will be easy. You would need to find a way to ensure chiral gene expression, either as an intervention in an embryo (after a certain point you know which cells are going to remain on one side) , or a more complicated deployment method if you chose to try gene therapy in an adult. Maybe you could selectively loosen the blood brain barrier in one hemisphere when you inject the vectors.

If there's a gene that works that way already that could be co-opted, I haven't heard of one, but I'm not a subject matter expert. My knowledge about mosaicism, at least in gene therapy, is when it's an unwanted consequence arising from an inability to spread the target gene to all cells.

If I had to go about this, I'd prefer finding a separate solution to the blindness or figuring out a way to prevent it from setting in in the first place instead of something so complicated.

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