Male adrenoleukodystrophy phenotypes
Female adrenoleukodystrophy phenotypes
Genetics
ALD is caused by mutations in ABCD1, located at Xq28 and demonstrates X-linked recessive inheritance. The gene ABCD1 encodes a peroxisomal membrane transporter which is responsible for transporting very long chain fatty acid substrate into the peroxisomes for degradation. Mutations in this gene that interfere with this process cause this syndrome.Males with an ABCD1 mutation are hemizygous, as they only have a single X chromosome. Female carriers will typically avoid the most severe manifestations of the disease, but often become symptomatic later in life. Although the detection of an ABCD1 mutation identifies an individual who is affected with a form of ALD, there is no genotype–phenotype correlation. Within a family, there will often be several different phenotypes, despite the presence of the same causative mutation. In one case, a family with six affected members displayed five different phenotypes. There are no common mutations that cause ALD, most are private or familial. Almost 600 different mutations have been identified, approximately half are missense mutations, one quarter are frameshifts, with in-frame deletions and splicing defects making up the remainder. The incidence of new mutations in ALD (those occurring spontaneously, rather than being inherited from a carrier parent) is estimated at 4.1%, with the possibility that these are due to germline mosaicism. Pathogenesis
The exact cause for the varied collection of symptoms found in the different ALD phenotypes is not clear. The white matter of the brain, the Leydig cells of the testes and the adrenal cortex are the most severely affected systems.
Irregular astigmatism is quantified by a vector calculation called topographic disparity. Focus of the principal meridian
With accommodation relaxed:

Simple astigmatism
Simple hyperopic astigmatism – first focal line is on the retina, while the second is located behind the retina. Simple myopic astigmatism – first focal line is in front of the retina, while the second is on the retina. Compound astigmatism
Compound hyperopic astigmatism – both focal lines are located behind the retina. Compound myopic astigmatism – both focal lines are located in front of the retina. Mixed astigmatism – focal lines are on both sides of the retina (straddling the retina). Throughout the eye
Astigmatism, whether it is regular or irregular, is caused by some combination of external (corneal surface) and internal (posterior corneal surface, human lens, fluids, retina, and eye-brain interface) optical properties. In some people, the external optics may have the greater influence, and in other people, the internal optics may predominate. Importantly, the axes and magnitudes of external and internal astigmatism do not necessarily coincide, but it is the combination of the two that by definition determines the overall optics of the eye. The overall optics of the eye are typically expressed by a persons refraction; the contribution of the external (anterior corneal) astigmatism is measured through the use of techniques such as keratometry and corneal topography. One method analyzes vectors for planning refractive surgery such that the surgery is apportioned optimally between both the refractive and topographic components.