Duane Retraction Syndrome

Asymmetry of the orbits leads to strabismus [crossed eye] (Craniosynostosis). Intracranial pressure can develop if the baby has Complex Synostosis, and can affect the baby in various ways, like a full or bulging fontanelle [soft spot located on the top of the head], sleepiness [or less alert than usual], increased irritability, poor feeding, projectile vomiting, seizures, bulging eyes, development delays, blindness, eye movement disorders, cognitive impairment [affects memory or thinking skills], or in rare instances, death. The risk of intracranial pressure from simple synostosis is small, as long as the suture and head shape are fixed surgically. Doctors cannot predict which children will develop this pressure problem; however, with more than one suture fused, the likelihood of increased pressure is higher. Surgery is typically the recommended treatment because the physician can reduce the pressure in the head and correct the deformities of the face and skull bones, but some children may not require surgery (Craniosynostosis).

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).

Duane’s Syndrome is a rare genetic disorder. A Genetic disorder is usually a irregularity in the genes or in the chromosome, these irregularities can be anything from not fully developed, not being there at all, or even having an extra unneeded set. These When someone thinks of a genetic disorder they may think of the very well known disorder of Down's Syndrome, but what people may not know about is the rare disorder called Duane’s syndrome. This syndrome is eye movement limitation syndrome that is usually involved with restricting the eye(s) from moving to the left or right. Moving the eye towards the nose could result in the eye restricting, and/or the eye shooting up or down (Duane syndrome). The simple reason that it is a lesser known

L.H. report no concurrent or severe headaches; There was no head trauma, syncope or vertigo. Patient wears corrective lens with no difficulty of vision or diplopia; absent of inflammation, discharge or lesion. Last eye exam was in September of 2016 with no history of glaucoma, cataracts. L.H. denies having any frequent colds, sinusitis, epistaxis and trauma. Patient reports having obstruction stating, “it happens when I am lying down” with an occasional postnasal drip.

1. Stevens-Johnson syndrome and related conditions such as TEN, chemical and burn injuries to the eye, ocular pemphigoid, or aniridia.

Extraoral conditions include cranial malformations due to closure of coronal, lambdoid or sagittal sutures. This results most commonly in brachycephaly, but trigonocephaly, scaophocephaly, and cloverleaf skull may also be seen. Early suture synostosis is directly related to increased intracranial pressure, which may affect the normal development of other neural structures leading to swelling of the optic nerve and chronic tonsillar herniation. In addition, shallow orbits of the eye is a well observed symptom and may lead to proptosis. In frequent cases, proptosis may cause conjunctivitis or

cases early childhood. It causes weakness of the face and shoulders and upper arm sometimes it shows difficulty of closing the eyes. Distal affects men and women symptoms are affecting the muscles of the arms, legs, and the feet. Symptoms usually comes between forty and sixty.

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. (n.d.). Retrieved April 18, 2016, from http://www.nature.com/eye/journal/v25/n11/full/eye2011201a.html

HISTORY OF PRESENT ILLNESS: Patient was in bed, reading a book on his tablet computer when the words began to look “fuzzy.” In addition to the blurred vision, he also experienced a “strange feeling” in his right eye. The following morning, he had difficulty opening the right eye. Using his fingers to open the eye, he had double vision. Along with the double vision, he also experienced pain in both eyes, which worsened when looking left. His wife drove him to the on-post emergency

According to Johnson et al. (2011), this condition has complete penetrance and variable expressivity of the trait. In more than 75 percent of patients, facial bone hypoplasia, involving the mandible and zygomatic complex, occurs (Johnson et al., 2011). The patient may have limited opening of the mouth, a small lower jaw, malocclusion, steep downward angle of the upper and lower jaws, cleft palate or a high vaulted palate (Renju, Renju, Varma, Kumar, & Kumaran, 2014). The maxilla may also be hypoplastic, according to Johnson et al. (2011), but it may be seen as overprojecting. Cleft palates are also a common feature of this syndrome. In some of the more severe cases, the insufficient formation of the facial bones could potentially obstruct the airway of the patient (Chang & Steinbacher, 2012). Some symptoms that can impact the eyes of the patient include: down-slanted palpebral fissures, lower eyelid coloboma, and spare eyelashes. Vision loss (33%), strabismus (37%), congenital cataracts, and microphthalmia or anophthalmia can occur, as well, according to findings from Chang and Steinbacher (2012). Despite these potential symptoms, vision is typically normal due to the retina developing on a branchial arch not affect by Treacher Collins syndrome and most patients have at least one

Pupils equal and round, reactive to light. Wears glasses, had injury to eye in 2008 where traumatic Cataract removed and lens was implanted.

There is still no definite pathogenesis of Charles Bonnet Syndrome but the most common conditions are associated with AMD, diabetic retinopathy, cataract and glaucoma (Gilmour et al 2009). CBS is more common in the elderly who experienced visual impairments in both sides of their visual system. It is extremely rare if CBS happens on patient with monocular loss of vision or

According to the description of the disease it is clear that Trachoma affects the visual system in particular. The anatomy of this system contains several elements of which the accessory structures of the eye include the following: eyebrows, eyelids, conjunctiva, lacrimal apparatus, and external eye muscles. The function of eyebrows and the eyelids is protect the eyes; also the eyelids moisten the eyes by reflex blinking. Within the eyelids are the orbicularis oculi and levator palpebrae superioris muscles which are anchored by tarsal plates. The

Duane syndrome is an eye movement disorder which is shown at birth. This disorder does not allow the movement of the eye inwards, upwards, downwards, and outwards due to abnormal nerves. There is three types of duane syndrome. The first type is not having the ability to move the eye outward towards your ears. The second type is not having the ability to move the eye inward towards your nose. The third type is not having the ability to move the eye towards both the nose region, and towards the ear. These are then put into three different subgroups A, B, and C. The subgroup type A is the affected eye is turned inward toward the nose. Subgroup B is the affected eye is turned outward toward the ear. Subgroup C is the eyes are in a straight primary

As defined by the American Academy of Ophthalmology (2) strabismus is a visual defect in which the eyes are misaligned and point in different directions. One eye may look straight ahead, whil e the other eye turns inward, outward, upward, or downward. You may always notice the misalignment, or it may come and go. A second disorder, amblyopia, commonly goes along with strabismus. Again, from the American Academy of Ophthalmology, Amblyopia is p oor vision in an eye that did not develop normal sight during early childhood. It is sometimes called lazy eye. (7) The reason these two conditions are so closely linked relates to how the brain interprets the information received from th e two separate eyes.