Vision and associated conditions

CHARGE

• Coloboma of the eye Coloboma (sort of like a cleft) of the iris, retina, choroid, macula or disc (not the eyelid); microphthalmos (small eye) or anophthalmos (missing eye): CAUSES VISION LOSS 80%-90%

• For parents with one child with CHARGE, the recurrence risk is low but it is not zero. It is probably around 1-2%. There are only a handful of documented examples of more than one child with CHARGE in a family.

Rubella Syndrome

What Kind of Impact Can This Condition Have?The impact of congenital rubella syndrome varies for each fetus. Problems that can occur because of congenital rubella syndrome include: Deafness Cataracts Heart defects (patent ductus arteriosus, interventricular septal defect, pulmonic stenosis) Mental retardation Liver and spleen damage Pneumonia.

• Prior to 1969 about 20,000 cases a year• Since 1999 about 5 cases a year in the U. S.• 2005 to present about one per year in the

U.S.• Most cases of Rubella are reported from

countries outside of the U S

Usher Syndrome

Usher syndrome is the most common condition that affects both hearing and vision. A syndrome is a disease or disorder that has more than one feature or symptom. The major symptoms of Usher syndrome are hearing loss and an eye disorder called retinitis pigmentosa, or RP. RP causes night-blindness and a loss of peripheral vision (side vision) through the progressive degeneration of the retina. The retina is a light-sensitive tissue at the back of the eye and is crucial for vision. As RP progresses, the field of vision narrows—a condition known as “tunnel vision”—until only central vision (the ability to see straight ahead) remains. Many people with Usher syndrome also have severe balance problems.

The optic nerve (arrow) looks very pale, the vessels (stars) are very thin and there is characteristic pigment, called bone spicules (double arrows).

Cerebral Palsy

Cerebral palsy refers to any number of neurological disorders that appear in infancy or early childhood and permanently affect body movement and muscle coordination but don’t worsen over time. Even though cerebral palsy affects muscle movement, it isn’t caused by problems in the muscles or nerves. It is caused by abnormalities in parts of the brain that control muscle movements. The majority of children with cerebral palsy are born with it, although it may not be detected until months or years later. The early signs of cerebral palsy usually appear before a child reaches 3 years of age.

The majority of individuals who suffer from cerebral palsy exhibit the symptoms of strabismus, the turning in or out of the eye. This is caused by weakness of the muscles in the eye and can lead to nearsightedness. If strabismus is not corrected, it can lead more severe vision problems

Traumatic Brain Injury

Common symptoms include: Anxiety, nervousness Behavioral changes:

difficulty controlling urges (disinhibition) impulsiveness inappropriate laughter irritability

Blurry or double vision (diplopia) Depression Difficulty concentrating or thinking Difficulty finding words or understanding the speech of others (aphasia) Difficulty swallowing (dysphagia) Dizziness Headache Incoordination of movements

Lightheadedness Loss of balance; difficulty walking or sitting Loss of memory Muscle stiffness and/or spasms Seizures Sleep difficulties (more or less sleep than pre-injury) Slurred and/or slowed speech Tingling, numbness, pain, or other sensations Sense of spinning (vertigo) Weakness in one or more limbs, facial muscles, or on an entire side of the body

common causes of TBI

Motor vehicle, bicycle, or vehicle-pedestrian mishaps (more than 50%)

Falls (approximately 25%)

Violence (nearly 20%)

About 3% of injuries are the result of sport injuries

Shaken Baby Syndrome is a form or TBI

Mental Retardation

ToxoplasmosisMicrocephaly

HydrocephalusShaken Baby SyndromeCytomegalovirus (CMV)

Cortical Visual Impairment

CVI

Cortical visual impairment (CVI) is a neurological visual disorder. It is the fastest growing visual impairment diagnosis today.

Definition for Medical Purposes:Cortical visual impairment (CVI) may be defined as bilaterally diminished visual acuity caused by damage to the occipital lobes and or to the geniculostriate visual pathway. CVI is almost invariably associated with an inefficient, disturbed visual sense because of the widespread brain disturbance

Definition for Educational Purposes:Cortical visual impairment (CVI) is a neurological disorder, which results in unique visual responses to people, educational materials, and to the environment. When students with these visual/behavioral characteristics are shown to have loss of acuity or judged by their performance to be visually impaired, they are considered to have CVI.

CMV

• Congenital CMV Infection

Congenital CMV, or cytomegalovirus (si-to-MEG-a-lo-vi-rus), is the most common congenital (present at birth) infection in the United States. Did you know that in the U.S....

• every hour, congenital CMV causes one child to become disabled

• each year, about 30,000 children are born with congenital CMV infection

• CMV is a member of the herpes virus family, which includes the herpes simplex viruses and the viruses that cause chicken pox (varicella-zoster virus) and infectious mononucleosis (Epstein-Barr virus)

Hearing loss Vision loss Mental disability Small head Lack of coordination Seizures Death

Microcephaly is a medical condition in which the circumference of the head is smaller than normal because the brain has not developed properly or has stopped growing. Microcephaly can be present at birth or it may develop in the first few years of life.

Depending on the severity of the accompanying syndrome, children with microcephaly may have:mental retardationdelayed motor functions and speech, facial distortions, dwarfism or short stature, hyperactivity, seizures, difficulties with coordination and balance, and other brain or neurological abnormalities.

SBS

Visual symptoms Bleeding inside one or both eyes is a common

symptom of shaken baby syndrome that can be detected by a pediatric eye specialist (ophthalmologist). Also, a child may have broken bones, often in the ribs or arms and legs, from violent shaking. Sometimes a child will have signs of other types of physical abuse, such as bruises or burns.

Microcephaly

CMV

S Shaken Baby Syndrome

Retinopathy of prematurity (ROP) is a potentially blinding eye disorder that primarily affects premature infants weighing about 2¾ pounds (1250 grams) or less that are born before 31 weeks of gestation (A full-term pregnancy has a gestation of 38–42 weeks). The smaller a baby is at birth, the more likely that baby is to develop ROP. This disorder—which usually develops in both eyes—is one of the most common causes of visual loss in childhood and can lead to lifelong vision impairment and blindness. ROP was first diagnosed in 1942.