Disease relevance of Eye Abnormalities

• Mutations in the hPOMT1 gene are responsible for Walker-Warburg syndrome (WWS), a severe recessive congenital muscular dystrophy associated with defects in neuronal migration that produce complex brain and eye abnormalities [1].
• In humans, PAX2 haploinsufficiency causes renal-coloboma syndrome (RCS) involving eye abnormalities, renal hypoplasia, and renal failure in early life [2].
• Human PAX6 mutations have been associated with a range of eye abnormalities, including aniridia, various anterior segment defects and foveal hypoplasia [3].
• It is characterised by nephritis, sensorineural hearing loss and eye abnormalities, as well as by macrothrombocytopenia and polymorphonuclear inclusion bodies [4].
• Lissencephaly, hydrocephalus, and eye abnormalities characterize patients with the Walker-Warburg syndrome, an uncommon autosomal recessive condition [5].

High impact information on Eye Abnormalities

• Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities [6].
• Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities [7].
• Disruption of a Bmp type I receptor gene, Bmpr1a, leads to no detectable eye abnormality [8].
• BACKGROUND: Muscle-eye-brain disease (MEB) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy, structural eye abnormalities, and type II lissencephaly [9].
• In infants with any of these eye abnormalities, a careful investigation for cocaine abuse is advisable [10].

Chemical compound and disease context of Eye Abnormalities

• The addition of vitamin A to the diet increased the frequency of these eye abnormalities in all strains, suggesting that this effect is not mediated by loci associated with H-2, as is the case with vitamin A-enhanced cleft palate [11].
• Across a variety of species, including humans, it has been shown that embryos exposed to ethanol display eye abnormalities as well as deficiencies in visual physiology and behavior [12].
• The most common teratogenic effects observed were edema for alachlor as opposed to axial flexures and eye abnormalities for 2,6-diethylaniline and 2-ethyl-6-methylaniline [13].
• Nevertheless, to determine whether there were ocular effects among alachlor-exposed workers, we examined a group of the highest exposed alachlor production workers (n = 135) for the presence of a specific eye abnormality, analogous to the initiating lesion in Long-Evans rats, called pigmentary dispersion syndrome [14].
• This established that no eye abnormalities attributable to ketoprofen occurred during this period of treatment [15].

Biological context of Eye Abnormalities

• The results of genetic analysis indicated that these eye abnormalities were caused by an autosomal recessive gene, eob [16].

Anatomical context of Eye Abnormalities

• Histologic observations of 30-day-old and adult mutant mice revealed various eye abnormalities such as microphthalmia, aphakia, absence of the anterior chamber, dystrophy of the cornea and vitreous body, and retinal disorganization [17].

Gene context of Eye Abnormalities

• Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product [18]?
• In fierce mutants carrying human NR2E1, structural brain defects were eliminated and eye abnormalities ameliorated [19].
• Developmental eye abnormalities were also background-dependent with B6129F1-frc mice having less severe thinning of optic layers and less affected electroretinogram responses [20].
• We defined ODDD on the basis of clinical characteristics described in this syndrome (microdontia, caries, enamel hypoplasia, thin nose, and syndactyly) and eye abnormalities such as microphthalmos, iris atrophy, and glaucoma [21].
• OBJECTIVE: To describe the prenatal findings in Pierson syndrome, a newly defined autosomal recessive entity, comprising congenital nephrotic syndrome (CNS) with diffuse mesangial sclerosis and distinct eye abnormalities due to LAMB2 mutations [22].

References