Intro to Ocular Disease Flashcards
_____ refers to the study of the symptoms or ch’s of a disease
Pathognomy
_____ dots are pathognomonic for vernal conjunctivitis
Trantas
Lisch nodules are pathognomic for
neurofibromatosis
What are developmental abnormalities of the eyelid
- telecanthus
- epicanthal folds
- epiblepharon
- eublepharon
- microblepharon
- entropion
What are eyelid abnormalities
- cyptothalmos
- ablepharon
- ankyloblepharon
- coloboma
____ is failure of differentiation between lid and anterior eye structures
cyptopthalmos
____ is deficiency of anterior layers of eyelid
ablepharon
____ is partial or complete fusion of lid margins
ankyloblepharon
____ in the lower lid is associated with teacher collins.
Coloboma
What is BPES associated with
- AD inheritance
- shortened palpebral fissure
- poor levator function
- absent lid crease/epicanthal fold
- ptosis
- telecanthus
- hypoplasia of nasal bridge
- amblyopia in 50%
what are developmental abnormalities of the cornea
- Anopthalmos
- Nanophthalmos/microphthalmos
- Microphthalmos (complex)
- Microcornea
- Megalocornea
- Cornea plana
- Sclerocornea
In ____ there is absence of the globe
anophthalmos
In _____ you have a small globe with normal structure
nanophthalmos
_____ complex is when you have nanopthalmos associated with another dysgenesis
microphthalmos
what refers to incomplete closure of embryonic fissure
coloboma
what are iris developmental abnormalities
- coloboma
- corectopia
- aniridia
What are developmental craniofacial syndromes
- treacher- collins
- craniosynostosis
- hallerman-streiff
- fetal alcohol
Which syndromes fall under craniosynostosis
- crouzon syndrome
- apert syndrome
- pfeiffer syndrome
What are characteristics of Crouzon syndrome
- shortened forward development of cranium
- midfacial hypoplasia
- prominent jaw
- hypertelorism
- proptosis
- optic atrophy
- exposure keratitis
what are characteristics of fetal alcohol syndrome
- short palpebral fissure
- telecanthus
- epicanthal folds
- low nasal bridge
- microphthalmos
- strabismus
- optic nerve anomaly
- myopia
- retardation
- small birth weight
What are chromosomal aberrations
- trisomy 21 - cataract, brush field spots, myopia, strabismus, keratoconus
- trisomy 17-18 - cataract, ptosis, microphthalmos, cornea opacity, colobomas
What are diseases of metabolic disorders
- alkaptonuria
- cystinosis; llysosomal storage disorder resulting in deposits of cystine crystals
- MPS
- Sphingolipidoses
- Fabry disease
- Wilson disease
What do you see in fabry disease
white to golden corneal opacities (whorl pattern), posterior wedge shaped cataract, conjunctival corkscrew vessels and micro aneurysm
What do you see in Wildons disease
Defect in copper metaobolism deposit in DM peripherally with no clear interval to limbus.
