Pediatric Ophthalmology Consultants

Williams Syndrome

What causes Williams Syndrome? Williams Syndrome is caused by a deletion of genetic material from a specific region of chromosome 7 that affects an elastin gene. Elastin is a protein that gives blood vessels strength and the ability to stretch.  It is a rare disorder and is also called Elfin Facies Syndrome. How is Williams Syndrome […]

Toxoplasmosis

What is toxoplasmosis? Toxoplasmosis is a disease that results from infection with the protozoan intracellular parasite Toxoplasma gondii. In the eye, Toxoplasma infections frequently cause significant inflammation and subsequent scarring which may temporarily or permanently impair vision.  Ocular toxoplasmosis can be congenital or acquired, and worldwide, toxoplasmosis is the most common cause of inflammation in […]

Thyroid Eye Disorders

What is the thyroid? The thyroid is a butterfly shaped gland located at the base of the front of the neck.  The thyroid gland regulates the thyroid hormone, and plays an important role in regulating body metabolism. What are euthyroid, hyperthyroid, and hypothyroid? Normal thyroid hormone level in the blood is considered euthyroid. When the […]

Third Nerve Palsy

What is a third nerve palsy? The third cranial nerve controls the movement of four of the six eye muscles.  These muscles move the eye inward, up and down, and they rotate the eye. The third cranial nerve also controls constriction of the pupil, the position of the upper eyelid, and the ability of the […]

Sturge-Weber Syndrome

What is Sturge-Weber syndrome?                            Sturge-Weber syndrome is characterized by a reddish discoloration of the skin on one side of the face (port wine stain) and malformation of blood vessels of the brain. Does every child with a port wine stain of the skin have Sturge-Weber syndrome? No. The reddish discoloration of the face may […]

Strabismus

What is strabismus and how common is it? Strabismus is any misalignment of the eyes. It is estimated that 4% of the U.S. population has strabismus. Are there different types of strabismus and if so, how are they named? There are many different types of strabismus. Strabismus is most commonly described by the direction of […]

Stickler Syndrome

What is Stickler Syndrome? Stickler syndrome is a progressive genetic disorder of connective tissue throughout the body. The condition was first described by Dr. Gunnar B. Stickler in 1965 and was originally called “Hereditary Progressive Arthro-ophthalmopathy” because of its tendency to affect the joints and the eyes. What are the features of Stickler Syndrome? Stickler […]

Sixth Nerve Palsy

What is cranial nerve VI palsy? Sixth cranial nerve palsy is weakness of the nerve that innervates the lateral rectus muscle. The lateral rectus muscle rotates the eye away from the nose and when the lateral rectus muscle is weak, the eye crosses inward toward the nose (esotropia). The esotropia is larger when looking at a […]

Rubinstein-Taybi Syndrome

What is Rubinstein-Taybi Syndrome? Rubinstein-Taybi Syndrome (RTS) is a genetic multi-system disorder characterized by facial abnormalities, broad thumbs and great toes, and developmental disability. It was first described in 1957 and was identified as a recognizable syndrome in 1963 by Jack Rubinstein and HooshangTaybi. How is RTS diagnosed? The diagnosis of RTS can be made […]

Retinoblastoma

What is retinoblastoma? Retinoblastoma is the most common primary malignant intraocular tumor in children.  Retinoblastoma originates from the retina (light-sensitive lining of the eye). One (unilateral) or both (bilateral) eyes may be affected and it typically occurs in children less than 5 years old. How common is retinoblastoma? Retinoblastoma affects approximately 300 children per year […]

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