Aniridia: A Panocular Developmental Malformation

Introduction: Aniridia (OMIM 106210) is a pan-eye development malformation with complete or partial irisplasia, mainly represented in the spectrum. (1) Prevalence of Aniridia (AN) is 1: 40,000 to 1: 100,000, preference by sex and gender is unknown (1-3) Spectrum not only the iris but also cornea, lens, optic nerve and center Including fossa. (4) In two-thirds cases, AN is a family of autosomal dominant inheritance (AD), the rest are sporadic. Patient It can occur as an isolated eye malformation without systemic involvement or as part of Wilms tumor, an iridia, genital abnormalities, and late-onset (WAGR) syndrome. (4, 5) AN pair pair box mutation result

Wilms tumor is one of microdeletion syndromes, and deletion occurs in chromosome 11p13. The affected child develops a kidney tumor (Wilms tumor) with an iridium (without irises), urogenital malformation and growth retardation. This combination is also known as WAGR syndrome. This is due to the loss of some genes in this deletion. For example, the loss of PAX 6 is responsible for the absence of iris and the loss of WT 1 results in tumors in Wilm. Di George syndrome is caused by the loss of the mocro in the proximal long arm of 22th. The incidence was one of 400 births with cardiac abnormalities, thymus and parathyroid hypoplasia. Half of the affected people are short stature, short of growth hormone. In adulthood, 25% of cases have schizophrenia

Chiari malformation is classified as Type I, Type II, Type III, Type IV, and Type 0 based on the anatomy of the brain tissue pushed into the spinal canal and the presence or absence of developmental abnormalities in the brain or spine. This situation is more common among women. It occurs mainly during the development of the fetus. People who develop Chiari in later years are caused by overinfection of cerebrospinal fluid or cerebrospinal fluid due to injury, infection or exposure to toxic substances. Symptoms and severity of Chiari anomalies vary from person to person. Many of the people suffering from Chi do not show signs of illness (often referred to as accidental or asymptomatic chiari), but others have the following symptoms

An anomalous type I chiari is the most common cause of spinal sinus disease. It may not cause symptoms, usually not recognized before adolescence or adulthood. Therefore, this form is also called adult Chiari anomaly. Chiari anomaly type I is usually not related to other neurological abnormalities, but compression of the brainstem and spinal cord can cause neurological symptoms. In Chiari malformation type II, cerebellar tissue extends into the spinal canal. Affected individuals may have some of the symptoms described above. However, other findings like hydrocephalus may also occur. Hydrocephalus is a condition in which excess accumulation of cerebrospinal fluid in the cerebral ventricle causes compression of brain tissue. Hydrocephalus may delay reaching milestones in abnormal head hypertrophy (macrocephalus), vomiting, annoyance, seizures, and development