SOX2 The most common genetic cause for<unk>  is mutated SOX2 gene. Sox2<unk>  syndrome is caused by a mutation in the Sox2 gene that does not allow it to produce the Sox2 protein that regulates the activity of other genes by binding to certain regions of DNA. Without this Sox2 protein, the activity of genes that is important for the development of the eye is disrupted. Sox2<unk>  syndrome is an autosomal dominant inheritance, but the majority of patients who suffer from Sox2<unk>  are the first in their family history to have this mutation. In certain cases, one parent will possess the mutated gene only in their egg or sperm cell and the offspring will inherit it through that. This is called germline mosaicism. There are at least 33 mutations in the Sox2 gene that have been known to cause<unk> . Some of these gene mutations will cause the Sox2 protein not to be formed, while other mutations will yield a non-functional version of this protein. RBP4 RBP4 has recently been linked to autosomal dominant form of<unk> . This form of<unk>  has variable penetrance and a unique maternal inheritance effect that is rooted in pregnancy. Specifically, the disease only occurs when a mother and fetus both carry a RBP4 mutation which predisposes the fetus to vitamin A deficiency (a known environmental risk factor for<unk>  during pregnancy. If Vitamin A deficiency occurs during the first several months when the eye is developing, it may lead to<unk> . This form of<unk>  is the first that may be intervened upon with vitamin A supplementation of retinyl esters during the first several months of pregnancy. This strategy exploits an RBP-independent pathway. Clinical research is underway. See RBP4 for more information. Other influential genes SOX2 and RBP4 are not the only genes that can cause<unk> . Other important genes include OTX2, CHX10 and RAX. Each of these genes are an important in retinal expression. Mutations in these genes can cause a failure of retinal differentiation. OTX2 is dominantly inherited. Mutation effects vary in severity, and can include microphthalmia. BMP4 is also linked to<unk> , as well as causing myopia and microphthalmia. It is dominantly inherited. BMP4 interacts with the Sonic hedgehog (SHH) pathway and can cause<unk> . Environmental influence Many environmental conditions have also been known to cause<unk> . The strongest support for environmental causes has been studies where children have had gestational-acquired infections. These infections are typically viral. A few known pathogens that can cause<unk>  are Toxoplasma, rubella, and certain strains of the influenza virus. Other known environmental conditions that have led to<unk>  are maternal vitamin A deficiency, exposure to X-rays during gestation, solvent abuse, and exposure to thalidomide. Chromosome 14 An interstitial deletion of chromosome 14 has been known to occasionally be the source of<unk> . The deletion of this region of chromosome has also been associated with patients having a small tongue, and high arched palate, developmental and growth retardation, undescended testes with a micropenis, and hypothyroidism. The region that has been deleted is region q22.1-q22.3. This confirms that region 22 on chromosome 14 influences the development of the eye.
Anophthalmia
Enophthalmia
Xerophthalmia
Exophthalmos
Enophthalmos
Photophthalmia
Periorbital hyperpigmentation
Hemifacial hypertrophy