paediatrics Flashcards
name 4 globe pathologies
-Anophthalmia
-Microphthalmos - may not look or work correctly either
-Nanophthalmos - small eye (14-16mm) but works correctly
-Cryptophthalmos - very rare but also associated with other developmental issues like microphthalmia
what is anphtalmia?
absence of any globe structure
what is microphthalmos?
small and often underdeveloped eye
what is cryptophtalmos?
a rare condition where the skin is continuous over the eye and in severe cases the skin completely fuse so no lids, lashes e.c.t.
what’s the most common cause of congenital ptsosis?
underdevelopment of the levator palpebrae muscle
how do you treat congenital ptsosis?
surgery, only if has
potential to affect visual
development as outcome is
better once child is fully grown
what is mobius syndrome? what is it because of?
a congenital neurological condition where the face is paralysed so eyes cant move laterally
-due to underdevelopment of cranial
nerves six and seven
what may a patient with mobius syndrome also be likely to have?
- Strabismus
- Corneal erosion (due to difficulty blinking)
name 3 congenital lid pathologies
-Congenital ptosis
-Mobius syndrome
-Marcus Gunn jaw winking syndrome = ptosis that improves when the Px moves their jaw
what is the goal in coloboma tratment?
maximising exisiting vision
what is coloboma?
tissue missing from one of the structures of the eye and symptoms depend on the structure its affecting
what structures can coloboma affect?
- Iris
- Uvea
- Lens
- Retina
- Macula
- Optic nerve
- Lids
what is the morning glory anomaly?
a rare congenital defect that can cause the optic nerve to look shaped like the morning glory flower (funnel shaped)
how is the look of the disk in morning glory syndrome different to optic disk coloboma?
morning glory syndrome, disk has a central glial tuft and peripapillary pigmentation which optic disk coloboma does not have
what are the symptoms and signs of morning glory syndrome?
-varying VA
-often enlarged blind spot
-possible leukocoria
what is megalocornea?
a non-progressive condition present at birth where the cornea is ≥ 13mm
what is the cause of megalocornea?
a sex linked genetic disorder M:F = 9:!
what are the signs of someone with megalocornea?
-ciliary body and lens may also be enlarged
-often have myopia and with the rule astigmatism
what are possible secondary complications of megalocornea?
-ectopia lentis
-cataracts (and condition makes surgery more difficult)
-iris chaffing against lens causing pigment dispersion and iris transillumination which can increase risk of secondary glaucoma
what is sclerocornea?
bilateral usually asymmetric corneal opacification and can be total or peripheral
what is aniridia?
bilateral partial or complete absence of an iris
Give 5 comorbidities aniridia could be associated with
- Foveal hypoplasia
- Optic nerve hypoplasia
- Glaucoma
- Nystagmus
- Decreased visual acuity
name 2 pupil abnormalities what what they are
-corectopia = displacement of the pupil
-polycoria = multiple pupils
what are other problems patients with corectopia have?
-high myopia
-ectopia lens
What is heterochromia? What is it caused by?
each eye is different in colour or one eye has more than one colour
caused by benign genetic mutation
what diseases can heterochromia be a sign of?
- Horner’s syndrome
- Sturge-Weber syndrome
- Tuberous sclerosis
what are the NHS stats on congenital cataracts?
affect 3-4 in every 1000 babies
what can be possible causes of congenital cataract?
-genetics
-infection either during pregnancy or after birth
-injury
what is the future risk of congenital cataract removal
lifetime risk of
developing glaucoma
what often causes congenital glaucoma?
abnormalities in the trabecular meshwork
what is ectopia lentis? what can it result it? why does it need to be investigated further?
dislocation or displacement of the natural lens
cant result in:
* Significant refractive shifts
* Angle closure glaucoma
* Damage to the retina
as it can be a sign of systemic disease
what is optic nerve hypolasia?
malformation of optic nerve head and can be in one or both eyes and sometimes sectorial (usually nasal) and results in reduced number of axons
what are signs of optic nerve hypoplasia
-variable VA
-small grey disc surrounded by a ring of chorioretinal atrophy outer pigment ring
what is Leber Congenital Amaurosis?
a rare inherited disorder causing severe viusal impairment or blindness from birth
what are the signs of leber congenital amaurosis?
-poor visual response
-nystagmus
-eye poking behaviour
-extreme farsightedness
what is retinitis pigementosa?
a group of inherited disorders causing progressive retinal degeneration due to mutations in genes responsible for the function of photoreceptor
cells