Eye examination

Question 1

Cataract differentials

Answer 1

Congenital
Infection: TORCH (CMV, rubella, syphillis)
Syndrome: t21, t18 , Noonans, NF2
Metabolic: Galactosemia, Zellweger, Wilsons (but doesn’t affect sight), other metabolic
Iatrogenic: steroids, radiation
Alports (secondary to anterior lenticonus)

Examine: eyes, heart, abdomen

Ix: FBE, LFTs, BSL
Torch serology
Red cell galactokinase
Serum copper
Urine protein
Opthamology review

Question 2

Eyelid coloboma

Answer 2

Upper eyelid: Goldenhar (but can be lower too)
Lower eyelid: Treacher collins syndrome

Question 3

Goldernhar syndrome

Answer 3

Eyelid coloboma
Eye limbal dermoids

Hemifacial asymmetry
Microtia
Auricular or preauricular ear tags
Hypoplasia mandible
Skeletal- microcephaly, scoliosis, hemivertebrae

Clincial diagnosis

Question 4

Eye coloboma

Answer 4

CHARGE syndrome (coloboma, heart defects, choanal atresia, retardation, GU defects, ear anomalies)- a lot of these kids are deaf blind

Cat eye syndrome (anal atresia, preauricular skin tags, GU anomalies, retardation)

Walker Warburg syndrome

Agenesis of corpus collosum

Ix: opthamology review (determine if retina involved)
Genetics
CHD7 mutation (CHARGE)
MRI brain/audiology/echo to look for other defects

Question 5

Strabismus differential

Answer 5

refractive error
Duane syndrome
Mobius syndrome
CP
CN 3 4 , 6 palsy
Retinoblastoma or other tumors around the eye
Increased ICP
Post infective

Esotropia (eye looks inwards at rest ) - refractive error, CN6 palsy, Duane, Mobius syndrome
Exotropia: CN3 palsy
Hypertropia : CN4 palsy

Question 6

Proptosis differentials

Answer 6

Unilateral:
- orbital cellulitis
-fibrous dysplasia
- trauma
-AVM
- cavernous sinus thrombosis
- neuroblastoma, retinoblastoma, optic glioma

Bilateral:
- graves disease
-craniosynestosis
-rickets
-achondroplasia

Question 7

Heterochromia differentials

Answer 7

Waardenburg syndrome
congenital horners syndrome
Sturge Weber syndrome
Incontinentia pigmenti