Eye Flashcards
Walker-Warburg syndrome
muscular dystrophy dandy walker spectrum Z-shaped brainstem occipital cephalocele occular asymetry
Aicardy
X-linked (girls and klinefelter)
abscent corpus callosum
occular abnormalities
posterior fossa cyst
Persistent hyperplastic primary vitreous
faillure of involtion hyaloid artery
associated to trisomy
clinically: leukocoria, vitreous hemorrhage, retinal detachement
Cataracts
metabolic
infectious (toxo)
genetic
chromosomal
Septo-optic dysplasia
suspected by abscent septum pellucidum
small transverse diameter of optic chiasma
Excavations of optic disc
Coloboma: incomplete closure of embryonic fissure. Associated to: persistent hyaloid artery, retinal dysplasia, CHARGE
Morning glory disc: funnel shaped excavation of the posterior fundus incorporating the optic nerve. Ambliopia, strabismus, leukocoria, retinal detachement
peripapillary staphyloma: non hereditary, unilateral, uveal weakness with sclero-uveal extacia
Coats
non hereditary, unilateral in males
retinal telangiectasia wit massive intraretinal and subretinal lipid accumulation, exsudative retinal detachement and blindness
CT: hyperdense, IRM hyper T1 and T2
Norrie
X linked
blindeness in male infants
retinal dysplasia with phtisis bulbi
progressive hearing loss and neuro problems
Eye infection
Preseptal: anterior to the orbit periostium reflexion. Periorbital cellulitis. Complication: subperiosteal abcess
Post-septal: orbital cellulitis. Risk of: abcess, blindeness, venous thrombosis (superior ophtalmic vein), intracranial extension
Secondary to sinusitis or dacryoadenitis
Staph
Ocular toxocariasis
6-12 yo
painless unilateral vision loss, strabismus and leukocoria
intravitreal enhancing mass
normal size globe
Obital pseudotumor
Dx of exclusion, rare in pediatrics
Exoftalmus, pain, proptosis, mass, swelling, motility restriction.
Lacrimal gland involvement, myositis
Diff: granulomatosis with polyangiitis, sarcoidosis, graves disease
B-value in DIF util
Löfgren’s syndrome
Acute systemic disease with fever, polyarthritis, erythema nodosum, and favourable prognosis
Heerfordt’s syndrome
Uveoparotid fever: fever, parotid swelling, uveitis, and sometimes facial palsy
Optic neuritis
more parainfectious (1/3-2/3), more bilateral, less painful, more visual loss and more recovery
less associated to MS
MRI: contrast enhancement, hyper T2
intraorbital nerve more common
Diff: parainfectious, idiopathic, MS (rare), NMO, ADEM
NMO
optic neuritis with transverse myelitis with a cord lesion or NMO-IgG +. 60% have cerebral lesions
50% become blind or loose ability to deambulate in 5 years