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
give 3 symptoms of retinitis pigmentosa
-night blindness
-peripheral vision loss
-eventual central vision loss
what are the signs of retinitis pigmentosa?
-mottled appearance on retina
-similar to bone spicule
what is congenital nystagmus? what can it be caused by?
- Involuntary, rhythmic eye movements (horizontal, vertical, or circular)
- Can be idiopathic or associated with albinism, congenital cataracts, or retinal disorders.
what is retinoblastoma?
a rare form of eye cancer that usually affects under 3s where 40% of cases are inherited
what are signs patients with retinoblastoma present with?
- Leukocoria which has often been noticed in a photograph
- Strabismus (but not always)
- Red sore or swollen eye
- Change in iris colour
- Reduced vision
- White, round retinal mass
what is essential to examine a potential retinoblastoma patient?
to dilate
what is prognosis in retinoblastoma if treated
good - 95% cure rate
what can happen if retinoblastoma is not treated?
can spread to bone marrow, liver and lungs
what does retinoblastoma treatment include?
- Laser treatment
- Cryotherapy
- Radiotherapy
- Chemotherapy
- Enucleation
give 6 differential diagnoses to retinoblastoma
- Retinopathy of prematurity
- Retinal detachment
- Toxocariasis
- Congenital cataract
- Coats disease
- Coloboma
who is mainly affected by retinopathy of prematurity?
premature babies
what can put a baby more at risk of having retinopathy of prematurity?
- Premature infants (<32 weeks)
- Low birth weight (<1501g)
- Prolonged oxygen treatment – interferes with normal retinal vasculature
growth
in retinopathy of prematurity what are zones used for?
to define where any ROP is located, the lower the number, the more central so the more worse the condition
who screens retinopathy of prematurity?
ophthalmologists and if found, the severity is classified into stages 1-5
how is ROP classified?
in stages from 1-5 and Px can have more than one stage in one eye and so you classify it based on the most severe stage they have
what are the classification stages of ROP?
-Stage 1: Demarcation Line= Thin, flat line separates avascular (anterior) and
vascularized (posterior) retina.
-Stage 2: Ridge Elevated ridge arising from the demarcation line.
-Stage 3: Ex
-extraretinal Fibrovascular Proliferation Neovascular tissue grows from the ridge into the vitreous.
-Stage 4: Partial Retinal Detachment Divided into two subcategories: foveal and extrafoveal.
-Stage 5: Total Retinal Detachment
Funnel-shaped, usually tractional, with subdivisions
based on the visibility of the optic disc and anterior
abnormalities.
when do you five treatment for rop and what is it?
if any ROP in Zone 1 with plus disease, or stage 3
in other areas
-laser ablation
-anti-VEGF
what is ophthalmia neonatorum?
conjunctivitis that occurs in the first month after birth
what is the main risk factor of ophthalmia neonatorum?
-chamydia in the mother (most common)
-Gonorrhoea, Staphylococcus aureus & Staphylococcus pneumoniae are
other causes
-Rarely HSV can be a cause
what is non - accidental head injury?
shaken baby syndrome where retinal haemorrhages are present which could be a sign of suspected child abuse as haemorrhages from accidental injuries are rare
what intrauterine infections may result in ocular issues in the baby?
- Toxoplasmosis
- Rubella
- Syphilis
- Lymphocytic Choriomeningitis Virus
- Cytomeglalovirus
- HSV
- VZV
name 7 genetic disorders that have an ocular effect
-Albinism
Marfan’s syndrome - most of these patients have ectopia lentis
-Neurofibromatosis
Stickler’s syndrome
-Down syndrome trisomy 21
-Edwards syndrome trisomy 18 - not regularly seen as not many babies survive
-Patau syndrome trisomy 13
what are the two types of albanism?
ocular or oculocutaneous which is most cases
name 7 ocular clinical features of albinism
- ↓VA
- Photophobia
- Nystagmus
*iris hypopigmentation/ transillumination - Foveal hypoplasia
- Fundus hypopigmentation
- Sometimes anterior segment dygenesis
what investigations can you do for suspected albinism?
- OCT – inner retinal layers which are usually absent may be
seen, photoreceptor layer may bulge upwards - VEP – chiasmal misrouting (due to ↑ decussation of temporal fibre
what are the treatments avaliable for childeren with albinism?
- Correct refractive error
- Tinted glasses
- Surgery considered for strabismus
what is marfan’s syndrome?
-a mainly inherited disease that has the same effect on females as males
-causes patients to have a defective fibrillin gene resulting in the tissue becoming more stretchy
give 9 ocular issues of marfans syndrome
- Ectopia lentis (affects 50-80%)
- High myopia/astigmatism
- Increased axial length
*Iridodonesis/phacodonesis - Iris transillumination defects
- Small, poorly dilating pupils
- Decreased corneal curvature
- Scleral thinning
- Retinal detachments
how is marfans syndrome ocular symptoms managed?
Review yearly – monitoring for lens subluxation,
cataract, glaucoma and retinal detachment (cataract surgery can be more complex in marfans)
give some characteristic features of a person with marfans syndrome
-long narrow face
-curved spine
-flat feet
-crowded teeth
-tall and thin body and build
what is neurofibromatosis?
a genetic condition that causes tumours to develop along nerves and so causes ocular signs
what is the main ocular sign of neurofibromatosis?
lisch nodules on the iris (tiny raised brown spots)
name an ocular disease secondary to neurofibromatosis
optic pathway glioma (under 7s are most at risk)
what is stickler’s syndrome?
a genetic condition affecting collagen
give 8 ocular signs of stickler’s syndrome
- Axial Myopia (80%)
- Retinal detachment
- Retinal holes and Giant Retinal Tears
- Cataracts
- Astigmatism
- Vitreous degeneration
- Strabismus
- Glaucoma
what’s another name for down’s syndrome?
trisomy 21
what are the ocular signs of down syndrome
- strabismus
- high refractive error
- keratoconus
- accommodative insufficiency
- cataracts
- nasolacrimal duct obstruction
- blepharitis
- nystagmus
what is another name of Edward’s Syndome?
trisomy 18
what are ocular symptoms of edwards syndrome
- ocular hypertelorism
- palpebral folds
- epicanthal folds
- ptosis
- inability to completely close the eyes
- clouding of cornea
- cataracts
- microphthalmia
- strabismus
- nystagmus
what is another name of Patau syndrome?
trisomy 13
name 9 ocular symptoms of Patau syndrome
*Anophthalmos/ microphthalmos
* Hypo- or hypertelorism
* Abnormal eyelash morphology
* Aniridia
* Congenital cataract
* Deeply set eye
* Iris coloboma
* Optic atrophy
* Retinal dysplasia
what is stimulus/ deprivation amblyopia caused by and give 2 examples
constant monocular occlusion e.g.
-congenital cataract
-ptosis
name 3 types of amblyopia caused by image blur
-anismetropic amblyopia
-ametropic amblyopia
-astigmatic/ meridional amblyopia
what does amblyopia treatment involve?
-wearing spectacle correction with patching for 4hrs a day
when should amblyopia be treated?
as early as possible below age 8
what should you be careful of not doing when treating amblyopia?
patching a patient with nystagmus as this can make the movement worse
what is stabismic amblyopia caused by?
only having one eye fixate rather than 2 and risk is dependent on whether the strabismus is constant, alternating or intermittent
what’s the difference between heterophoria and heterotropia?
heterophoria is a latent misalignment of the eyes that becomes evident when binocular vision is disrupted whereas heterotropia is where the eyes are always misaligned so cant work together to focus on the same point
name two congenital BV issues
-Duane’s
-Browns
name 3 sensory adaptations to strabismus
-suppression
-abnormal retinal correspondence
-microtropia
name 3 motor adaptations to strabismus
-face turn
-head tilt
-chin elevation
what strabismus patients have a head tilt?
those with a vertical and/or tortional deviation
what strabismus patients have a face turn?
those with a horizontal deviation
why do some strabismus patients have chin elevation or depression
- Helps with weaknesses of elevator or depressor muscles
- Can minimise A or V pattern
