Developmental, Metabolic, Deposits/discoloration (Cale)

Question 1

developmental eyelid abnormalities

Answer 1

telecanthus, epicanthal folds, epiblepharon, eublepharon, microblepharon, entropion

Question 2

epiblepharon

Answer 2

extra skin fold hiding lid

Question 3

eublepharon

Answer 3

horizontal lengthening, ectropion, lagophthalmos

Question 4

microblepharon

Answer 4

assoc with anophthalmos

Question 5

Cyptophthalmos

Answer 5

failure fo differentiation between lid and anterior eye structures

Question 6

ablepharon

Answer 6

deficiency of anterior layers of eyelid

Question 7

ankyloblepharon

Answer 7

partial or complete fusion of lid margins

Question 8

coloboma

Answer 8

lower lid associated with treacher-collins, goldenhar’s syndroms. .Upper lid has few associations

Question 9

blepharophismosis-ptosis-epicanthus-inversus synd

Answer 9

AD inheritance, shortened palpebral fissure, poor levator function, absent lid crease/epicanthal fold, ptosis, telcanthus, hypolasia of nasal bridge, amblyopia

Question 10

developmental abnormalities of cornea

Answer 10

anophthalmos, nanophthalmos or simple microphthalmos, microphthalmos, microcornea, megalocornea, cornea plana, sclerocornea

Question 11

anopththalmos

Answer 11

absence of globe

Question 12

nanophthalmos or simple microphthalmos

Answer 12

small globe with normal structure, angle closure glaucoma due to large lens relative to globe, hyperopia, amblyopia, strabismus

Question 13

microphthalmos

Answer 13

nanophthalmos associated with other dysgenesis

Question 14

microcornea

Answer 14

AD inheritance uni or bilateral, may accompany nanopthalmos, shallow A/C and risk of angle closure glaucoma, cataract, leukoma, associated with Ehlers-danlos, dwarfism

Question 15

megalocornea

Answer 15

x-linked recessive, steep with high myopia and astigmatism, pigment dispersion, subluxation of lens due to loose zonules, associated with ocular and systemic disorders

Question 16

cornea plana

Answer 16

autosomal bilateral dominant and recessive. associated with angle closure, scarring, vascularization, coloboma, cataract

Question 17

sclerocornea

Answer 17

bilateral moderate (peripheral) or severe (entire cornea)

Question 18

developmental abnormalities Iris

Answer 18

coloboma, corectopia, aniridia

Question 19

coloboma

Answer 19

incomplete closure of embryonic fissure/inferonasal

Question 20

aniridia

Answer 20

acuity decrease, optic nerve ad fovea hypoplasia, strabismus, nystagmus, cataract, glaucoma

Question 21

developmental syndromes craniofacial

Answer 21

treacher-collins, craniosynostosis, hallerman-streiff, fetal alcohol

Question 22

craniosynostosis

Answer 22

crouzon syndrom, apert syndrome, pfeiffer syndrome

Question 23

crouzon syndrome

Answer 23

shortened forward development of cranium, midfacial hypoplasia and prominent jaw, hypertelorism, proptosis, optic atrophy, exposure keratitis

Question 24

fetal alcohol syndrome

Answer 24

short palpebral fissure, telecanthus, epicanthal folds, low nasal bridge, microphthalmos, strabismus, optic nerve anomaly, myopia, retardation, small birth wt

Question 25

chromosomal aberrations

Answer 25

trysomy 21 (down syndrome) and trisomy 17-18 (edward’s syndrome)

Question 26

trisomy 21

Answer 26

cataract, brushfield spots (iris), myopia, strabismus, keratoconus

Question 27

trisomy 17-18

Answer 27

cataract, ptosis, microphthalmos, cornea opacity, colobomas

Question 28

kunkmann wolffian bodies

Answer 28

occur in normal eyes 15% of time in kids. hypopigmented areas of peripheral iris stromal hyperplasia. clinically indistinguishable from brushfield spots of down syndrome

Question 29

Metabolic disorders

Answer 29

diseases of protein and amino acid metabolism, mucopolysaccharidoses, sphingolipidoses

Question 30

disease of protein and amino acid metabolism

Answer 30

alkaptonuria and cystinosis

Question 31

sphingolipidoses

Answer 31

fabry disease and wilson disease

Question 32

alkaptonuria

Answer 32

acid accumulation in cartilage and tendons resulting in arthropathy, dark urine, blue/gray pigmentation of sclera

Question 33

cystinosis

Answer 33

lysosomal storage disorder resulting in deposits of cystine crystals

Question 34

mucopolysaccharidoses

Answer 34

lysosomal storage disorders resulting in failed glycosaminoglycans breakdown with altered metabolite accumulation in cornea
syndromes: hurlers, scheie’s, hurler-scheie, morquios, maroteaux-lamy

Question 35

what is fabry disease

Answer 35

lysosomal storage disorder caused by deficiency in alpha-glactosidase A and accumulation of glycolipid

Question 36

what is wilson disease

Answer 36

(hepatolenticular degeneration) abnormal copper deposition in tissue. Cu deposit in descemet’s peripherally with no clear interval to limbus. if in liver results in cirrhosis and death. age 8-16

Question 37

what is seen in fabry disease, prevalence?

Answer 37

males>females (xlinked), ocular: white to golden corneal opacities, posterior wedge shaped cataract, conjunctival corkscrew vessels and microaneurysm, pain in hands and feet, clusters of small dark red spots, hypohidrosis, tinnitus, gastrointestinal, hearing loss, life-threatening

Question 38

ocular melanocytosis

Answer 38

unilateral pigmentation of sclera, episclera, uvea: increase in normal melanocytes, caucasions, associated with heterochromia and dark fundus
nevus of Ota=ocular +skin: afro-american and asian most common, malignancy potential only in caucasion, may have inc risk for glaucoma

Question 39

blue sclera conditions

Answer 39

• osteogenesis imperfecta: scleral thinning, megalocornea
• ehlers-danlos syndrome: scleral thinning and fragility, epicanthal folds, microcornea, keratoconus, keratoglobus, ectopia lentis, myopia, retinal detachment
• alkaptonuria: bluish-grey or black discoloration of sclera

Question 40

nutritional disorders

Answer 40

Vitamin A (xeropthalmia): nyctalopia (night blindness), xerosis (bitot spot-foamy keratinized epith), keratinization of cornea, retinopathy