Cat Eye Syndrome Research Paper

The United States has many minority groups that face oppression. In the media today, most of the minority issues that are highlighted involve the LGBTQ community, women, and racial minorities. Differently-abled people are rarely given the space to share with the world how they see it. This literature review will discuss terms related to visual impairment, legislative measures taken in the United States to assist those with severe visual impairments, and the oppression and discrimination those who are visually impaired face.

No history of skin disease. Skin is pink, dry, and void of bruising, rashes, or lesions. No recent hair loss; head is normocephalic. Pupils equally reactive to light; no history of glaucoma or cataracts. Ears are in normal alignment; no history of chronic infections, hearing loss, tinnitus, or discharge. Nose and sinus history includes clear nasal discharge “since last October”, and occasional nose bleeds; states she use to get nose bleeds often as a child. Mouth and throat are absent of lesions; no bleeding gums, sore throat, dysphagia, hoarseness, or altered taste. Neck is void of pain, swelling,

INTRODUCTION. Idiopathic congenital nystagmus, or idiopathic infantile nystagmus is a disease characterized by the rapid, involuntary eye movement. This movement is typically in the horizontal direction, however, movement in other directions have been observed. One way to get nystagmus is through genetic mutations. Nystagmus caused by genetic mutation is seen at a relatively young age but cannot yet be treated. The disease is not understood well, it is believed that the cause is a developmental defect. The linkage, and inheritance has not been identified, the patterns suggest that multiple genes are involved in the disease and that there are loci on different chromosomes with three of the five loci located on the X chromosome. Mutations have been linked to the FRMD7 gene, a gene that consists of 12 exons, of the FERM family. The function of FRMD7 have yet to be determined however an abundance of the protein in the brain in areas associated with the eye. Mutations within this region consist of missense, deletion, tranversion and nonsense mutations. Over forty-four mutations that lead to ICN have been found in the FRMD7 gene. Learning more about the mutation of FRMD7 in ICN is important because these mutations may prevent elongation of neurite processes during differentiation preventing axons from responding to stimuli (Watkins et al. 2012).

The chromosomal abnormalities include turner's disease, laron dwarfism, noonan syndrome, sinotina wiley syndrome, russell xifushi, mutation / deletion of the short stature homeobox-containing gene, and skeletal dysplasia.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

Visual fields full to confrontation. Extraocular muscles intact. PERRLADC. Normal facial symmetry, sensation and movement. Tongue and uvula were midline. Normal auditory acuity. Shoulder shrug is normal.

CHARGE syndrome is a rare genetic disorder that manifests itself in 1 in 10,000 newborns. The syndrome is characterized by complex yet identifiable clinical features including Coloboma- which involves a cleft in one of the structures of the eye, heart defects, choanal atresia- a narrowing or blockage of the nasal cavity, retardation of growth and development, genitourinary malformation and various ear abnormalities (Kim et al., 2014). Although these malformations are associated with CHARGE syndrome, the specific pattern and severity of symptoms varies among diagnosed individuals (Hsu et al., 2014).

described the characteristics and symptoms of this disease and what exact organs it relates to.

Per (2004-2006) records and a consultative examination (CE), the claimant reported a history of retinopathy of prematurity that caused right eye blindness since birth and a cataract in the right eye, as well as a visual field restriction (less than 20 degrees), myopia, and poor visual acuity in the left eye that required corrective eyeglasses. She also had a history of asthma and migraine headaches.

This lack of protein causes deficiencies in the relaying of nerve impulses which then leads to an individual displaying the physical and developmental symptoms specific to this syndrome. Most males and about half of females with a full gene mutation have characteristics such as a narrow face, large ears, a prominent jaw and forehead and unusually flexible fingers, and even flat feet and low muscle tone due to associated problems with connective tissues (National Library of Medicine, 2014). Males tend to have a mild to moderate intellectual disability, while only one-third of affected females are intellectually disabled (National Library of Medicine). Individuals also suffer from behavioral problems that include things such attention-deficit/hyperactivity disorders, obsessive-compulsive fidgeting or impulsive actions, unstable and disproportionate emotional displays, aggressive and self-injurious behavior related to difficult temperament, and features of autism spectrum disorders like hand-flapping and poor eye contact (Hersh & Saul,

First, the most common, which affects 75% of the population, is resulting from de novo maternal deletions involving chromosome 15q.11.2-913. Second, approximately 25% of the population results in mutations in gene encoding the ubiquitin protein ligase E3A gene. Third, there are 2-3% whom results in AS through imprinting defects. Lastly, 2% of the population results from uniparental disomy of 15q11.2-913, where the child receives two copies of a chromosome from parent and no copies from the other parent. The image below (Figure 1) shows the different genetic mechanisms that cause Angelman syndrome. We have a side-by-side visual of the chromosome and what the defect(s) look like, and where it takes place on the maternal

Fragile X syndrome is among the common inherited cause of intellectual disability and single cause of autism. This is caused by the lengthening of the X chromosome and although both male and female can be affected, males are more prone to be affected than females – with the ratio of 1/4000:1/8000 (1). This is because males have only one X chromosome, while female has two. Females can be a carrier of this gene defect but their other X chromosome would still be able to make the protein, whereas male, only possessing one X chromosome would be more affected. Symptoms of this mutation includes behavioral and learning disabilities, autism disorder, elongated and narrow face (macrocephaly), macroorchidism

The NF1 gene has been sited to the long arm of chromosome 17; more than 250 mutations leading to protein truncation having been detected in affected individuals.

The first disease I’m going to mention is Glaucoma, according to Web MD last updated in 2015, Glaucoma is a condition that causes damage to your eye's optic nerve and gets worse over time. It's often associated with a buildup of pressure inside the eye. Glaucoma tends to be inherited and may not show up until later in life.

Type II syndactyly or synpolydactyly(SPD) is a semi dominant inherited limb malformation that involves a fusion of digits. It is caused by mutations in HOXD13 on chromosome 2 due to polyalanine repeat expansions. Polyalanine repeats in SPD are mitotically and meiotically stable, causing polymorphisms to be rare, unlike other nucleotide repeat expansions such as Friedreich’s ataxia. HOXD13 is a member of the HOX family, a family of transcription factors that are proteins which contain homeodomain that are important for controlling cell fate along the limb axes and body. HOXD13 is a part of the HOXD gene cluster and crucial for limb development, particularly during the early and late stages of limb development. The stage occurs during the creation of the limb buds at week 4, during this stage the limbs have AP polarity through the expression of sonic hedgehog(shh) signaling from the zone of polarizing