PEDIATRIC ABNORMALITIES definitions

ANOPHTHALMOS

rare condition characterized by the absence of the tissues of the eye

MICROPHTHALMOS

small globe within the soft orbital tissues

○ Trisomy 13 (Patau’s Syndrome) contributes to this.

EPICANTHAL FOLDS

skin folds of the upper eyelid that cover the inner corner (canthus) of the eye.

BLEPHAROCHALASIS

characterized by recurrent painless swelling of the eyelids leading to loose, wrinkled, and thin eyelid skin over time.

○ Due to allergies and should be recurrent to be diagnosed as such

BLEPHAROPHIMOSIS

generalized narrowing of the palpebral fissure w/c gives an appearance of ptosis.

COLOBOMA OF THE EYELID

characterized by a notch or gap in the eyelid margin.

DISTICHIASIS

extra row of eyelashes grows from the openings of the meibomian glands, often abnormally directed toward the eye.

○ Autosomal dominant, defected gene is inherited by either parent

TRICHIASIS

condition where the eyelashes grow inward toward the eye.

DUANE’S SYNDROME

rare eye movement disorder where one or both eyes have limited ability to move outward.

CONGENITAL STRABISMUS

a misalignment of the eyes present at or shortly after birth, typically within the first six months of life — mostly esotropic

Risk Factors:

○ Family hx of strabismus

○ High ACA ratio

○ Significantly high

○ Hyperopia (needs more accommodation)

FETAL ALCOHOL SYNDROME

condition in a child that results from alcohol exposure during the mother's pregnancy.

MEGALOCORNEA

enlargement of the cornea beyond 13 mm in diameter

MICROCORNEA

condition where the cornea is smaller than the normal with less than 10 mm in diameter

CONGENITAL ANIRIDIA

rare genetic disorder characterized by the partial or complete absence of the iris present at birth.

CORECTOPIA

pupils are displaced from its normal position.

CONGENITAL CATARACT

clouding of the eye's lens that is present at birth or early stages of life often during 6 mos.

ECTOPIA LENTIS

condition in which the lens of the eye is dislocated or displaced from its normal position.

TOXOPLASMOSIS

infection that occurs when a pregnant woman passes the Toxoplasma gondii parasite to her baby during pregnancy or from contaminated foods.

RETINOBLASTOMA

congenital malignant tumor before age 5 yrs because retina develops rapidly before the age of 5. It occurs when RB1 tumor suppressor gene mutations cause uncontrolled proliferation of immature retinal cells.

○ Initially observed as a whitish reflex of light at the pupil

RETINOPATHY OF PREMATURITY (ROP)

Acquired condition on premature infants or low birth weight.

• Blood vessels in the eye grow abnormally.

• The newborn needs more oxygen.

TOXOPLASMA GONDII

the parasite from contaminated foods that occurs when a pregnant woman passes the parasite to her baby during pregnancy or from contaminated foods.