Flashcards: Congenital disorders of eyes

A coloboma (from the Greek koloboma, meaning defect) is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc.

A distichia is an eyelash that arises from an abnormal spot on the eyelid.

Entropion is a medical condition in which the eyelid (usually the lower lid) folds inward.

Aniridia is the absence of the iris, usually involving both eyes.

Ectropion is a medical condition in which the lower eyelid turns outwards.

Ptosis is a drooping or falling of the upper eyelid.

Ectopia lentis is a displacement or malposition of the eye's crystalline lens from its normal location.

Blepharophimosis is a condition where the patient has bilateral ptosis with reduced lid size, vertically and horizontally.

Keratoglobus (from Greek: kerato- horn, cornea; and Latin: globus round), is a degenerative non-inflammatory disorder of the eye in which structural changes within the cornea cause it to become extremely thin and change to a more globular shape than its normal gradual curve.

Aphakia is the absence of the lens of the eye, due to surgical removal, a perforating wound or ulcer, or congenital anomaly.

Cryptophthalmos is a rare congenital anomaly in which the skin is continuous over the eyeball with absence of eyelids.

Anophthalmia, (Greek: ανόφθαλμος, "without eye"), is the medical term for the absence of one or both eyes.

Norrie disease is a genetic disorder that primarily affects the eye and almost always leads to blindness.

Marcus Gunn phenomenon, also known as Marcus Gunn jaw-winking or trigemino-oculomotor synkinesis, is an autosomal dominant condition with incomplete penetrance, in which nursing infants will have rhythmic upward jerking of their upper eyelid.

Axenfeld syndrome (also known as Axenfeld-Rieger syndrome or Hagedoom syndrome) is a rare autosomal dominant disorder, which affects the development of the teeth, eyes, and abdominal region.

Buphthalmos (plural: buphthalmoses) is enlargement of the eyeball and is most commonly seen in infants and young children.

Hydrophthalmos is a congenital form of glaucoma.

Congenital cystic eye (also known as CCE or cystic eyeball) is an extremely rare ocular malformation where the eye fails to develop correctly in utero and is replaced by benign, fluid-filled tissue.

Microphthalmia (Greek: μικρός micros = small; ὀφθαλμός ophthalmos = eye), also referred as microphthalmos, is a developmental disorder of the eye in which one (unilateral microphthalmia) or both (bilateral microphthalmia) eyes are abnormally small and have anatomic malformations.

Zonular cataract and nystagmus, also referred as Nystagmus with congenital zonular cataract is a rare congenital disease associated with Nystagmus and zonular cataract of the eye.

Microspherophakia is a rare congenital autosomal recessive condition where the lens of the eye is smaller than normal and spherically shaped.