paediatrics

• congenital eye problems

  • defects and eye problems are from birth during development in uterus or could be something which happened as result of birth
• globe abnormalities

  see image

  
• anopthlamia

  • absence of any globe structure at all
• microphthalmos

  • small and underdeveloped eyes
  • some structure but faulty function
• nanophthalmos

  • abnormally small eye but structurally normal
  • 14-16mm - normal is 20mm
  • may have shallow cornea
• cryptophthalmos

  • rare condition
  • skin continuous and in severe cases there is complete fusion of the skin with no presence of the lids, lashes or other gland structures
  • associated with maldevelopment - ie microphthalmia

  
• lid issues - congenital ptosis

  • common cause is underdevelopment of levator palpebrae muscle
  • treat with surgery only if it could affect visual development, outcome better when child is grown
  • if vision okay and ptosis not too low that it risks amblyopia, surgery delayed until fully grown/ outcomes better in adulthood
• möbius syndrome

  • congenital neurological condition
  • facial paralysis due to underdevelopment of nerves 6 and 7
  • inability to move eyes laterally, can move them up and down
  • may have strab and corneal erosion due to difficulty blinking

  
• marcus gun jaw winking syndrome

  • ptosis when jaw moves

  
• coloboma

  • tissue missing from part of the eye
  • often inferiorly
  • symptoms depend on what structure is affected and can range from no symptoms to blindness
  • can affect uvea, iris, lens, retina, macula, optic nerve, lids
  • treatment is to maximise existing vision
  • macula coloboma - retina not developed fully at macula
  • optic nerve coloboma - no optic nerve
  • lid coloboma - semi circular defect
  • iris coloboma - key shaped iris
  • retinal coloboma - retiona not formed in inferior eye
  • lens coloboma - lens not fully formed, or area missing

  
• morning glory anomaly

  • congenital abnormality of optic nerve
  • named after flower
  • VA varies
  • enlarged blind spot
  • may have leukocoria - small white pupil
  • unlike optic disc coloboma, they have central glial tuft and peripapillary pigmentation

  
• meglocornea

  • non progressive condition where cornea is over 13mm
  • present at birth
  • ciliary body and lens enlarged
  • x linked recessive condition, M:F 9:1
  • often myopic and have with the rule astigmatism
  • may develop ectopic lentis
  • can have iris chaffing around the lens leading to pigment dispersion syndrome and iris transillumination - lets light through it
  • risk of secondary glaucoma
  • more prone to cataracts - dfficult surgery

  
• sclero cornea

  • bilateral, usually asymmetrical, corneal opacification
  • can be total or peripheral

  
• aniridia

  • no iris, partial or complete
  • bilateral and assoicated with many ocular conditions including foveal hypoplasia, nerve hypolasia, glaucoma, nystagmus, decreased VA

  
• pupil abormalities

  corectopia

  • displacement of pupil
  • px highly myopic with ectopia lentis

  polycoria

  • multiple pupils

  
• heterochromia

  • more than one eye colour, each eye different or one eye has more than one colour
  • caused by benign genetic mutations in most cases
  • sign of horners syndrome, sturge weber syndrome, tuberous sclerosis
• congenital cataracts

  • 3-4 in 1000 babies
  • often not determined but can be due to infection during birth or pregnancy, injury or genetics
  • if cataract removed then at lifetime risk of developing glaucoma
  • caused by maternal illness - if rubella or chickenpox can affect eye development and lens
  • severity varying, if not severe then blue dot cataract which doesnt affect vision

  
• congenital glaucoma

  • due to issues with trabecular meshwork

  
• ectopia lentis

  • dislocation or displacement of natural lens
  • sign of systemic disease
  • can result in significant refractive shifts, angle closure glaucoma, damage to retina
  • in between the lens and iris there are fine lines - lens zonules and iris pigmentation, lens is displaced using refractive shifts - aphakic so large plus changes in vision
  • can get angle closure glaucoma if it moves into the angle, and displacement where it can fall into retina
  • can be related to Marfan syndrome
• optic nerve hypoplasia

  • malformation of ONH, can be one or both eyes
  • sectoral and mostly nasal issues
  • results in reduced number of axons
  • VA variable
  • small grey disc surrounded by ring of chorioretinal atrophy and outer pigment ring

  
• lebers congenital amaurosis

  • inheriteed rare disorder cuasing visual impairement and blindness from birth
  • poor visual response, nystagmus, eye poking behaviour
  • extreme far sightedness
• retinitis pigmentosa

  • group of inherited disorders causing progressive retinal degeneration
  • mutations in genes responsible for function of photoreceptor cells
  • born with good vision but declines with age
  • symptoms are nyctopia, peripheral vision loss and eventually central vision loss
  • signs are mottled appearance like bone spicule

  
• congenital nyastagmus

  • develops close to birth
  • involuntary rhythmic eye movements which are horizontal, vertical or circular
  • can be idiopathic or associated with albinism, congenital cataracts, retinal disorders
• colour vision deficiency

  • congenital deficiencies are red or green
  • inherited x linked condition affecting 1/12 of males and 1/200 females
  • anomalous trichromacy - one cone receptor not tuned to correct wavelength
  • dichromacy - 2 properly working cones
  • achromatopsia - no photoreceptors function causing poor vision and total blindness
  • monochromacy - one type of cone receptor works, hard to percieve certain colours

  
• retinoblastoma

  • rare form of eye cancer affecting 1/200000
  • 40% cases are inherited autosomal dominant
  • usually affects under 3s
  • treatments have improved, prevelence has increased
  • present with leukocoria, white pupil, strabismus sometimes, red, sore, swollen eyes, change in iris colour, reduced vision, white round retinal mass
  • dilated examination essential
  • 95% cure rate when treated, if not treated then can spread to the bone marrow, liver and lungs
  • treatment includes laser, cryotherapy, radiotherapy, chemo, enucleation of the eye
  • differential diagnosis - retinopathy of prematurity, toxocaraisis, retinal deteachmet, congenital cataract, coats disease, coloboma

  
• retinopathy of prematurity

  • affects premature babies
  • abnormal growth of vessels in retina, not fully developed
  • risk factors are premature infants less than 32 weeks, low birth weight 1.5kg, prolonged oxygen treatment, interfering with normal retinal vasculature growth; interferes with retinal vein development
  • zones used to work out location of ROP, lower numbers mean more central and worse condition
  • posterior zone was added later
  • carried out by opthalmologists, pupils dilated and assessed with ophthalmoscopy, inferior eye checked using an indenter, regular monitoring

  
• stages and screening for retinopathy of prematurity

  1. demarcation line = thin flat line separating avascular anterior and vascularised posterior retina
  2. ridge = elevated ridge arising from demarcation line
  3. extraretinal fibrovascular proliferation = neovascular tissue grows from ridge into vireous
  4. partial retinal detachment - divided into foveal and extra foveal
  5. total retinal detachment - funnel shaped, tractional with subdivisions based on visibility of the optic disc and anterior abnormalities

  • determined by most severe stage present if many co exist, plus disease occurs when vessels look tortuous and dilated in at least 2 quarters
  • risk factor for progression

  children at risk are screaned and if any ROP in zone 1 plus disease stage in stage 3 in other areas, laser ablation and anti VEGF
• opthalmia neonatorum

  • conjunctivits in first month
  • aquired
  • main risk factor is STD from mother
  • chlamydia is most common cause
  • Gonorrhoea, staphylococcus aureus and staphylococcus pneumonia are other causes 
  • Rarely HSV can be a cause 
• non accidental head injury

  • shaken baby syndrome
  • retinal haemorrhages are rare in accidental injuries
  • presence of haemorrhages examined by senerior opthalmologist
  • report abuse
• intrauterine infections

  • infections during pregnancy can have ocular issues in the baby
  • toxoplasmosis
  • rubella
  • syphillis
  • lymphocytic choriomeningitis virus
  • cystomeglovirus
  • HSV
  • VZV
• albinism - genetic disorder

  • incorrect synthesis of melanin
  • ocular XLR = 10%, oculocutaneous AR
  • clinical features = reduced VA, photophobia, nystagmus, iris hypopigmentation or transillumination, foveal hypoplasia, fundus hyperpigmentation and anterior segment dygenesis
  • investigate with OCT - inner retinal layers which are usually absent can be seen, bulging photoreceptor layer
  • VEP - chiasmal misrouting due to decussation of temporal fibres
  • treatment - correct rx, tinted glasses, surgery if strabismus, low vision aids
• marfans syndrome - genetic

  • px has defective fibrillin gene so stretchy tissue
  • inherited in 3/4 cases
  • M=F
  • ocular symptoms - ectopia lentis, high myopia and astigmatism, increased axial length, iridonesis/ phacodenosis, iris transillumination defects, small and poorly dilated pupils, decreased corneal curvature, scleral thinning and RDs
  • manage = yearly review to monitor for lens sbluxation, cataracts, glaucoma or RD
  • cataract surgery can be more complicated with these px

  
• neurofibromatosis

  • genetic condition causing tumours to grow along nerves
  • develops over years
  • ocular symptoms = optic pathway glioma - under 7 at highest risks, lisch nodules on iris - small raised brown spots

  
• sticklers syndrome

  • genetic condition affecting collagen
  • axial myopia in 80%
  • retinal tears
  • cataracts
  • astigmatism
  • vitreous degeneration
  • strabismus
  • glaucoma
• trisomy 21 - downs syndrome

  • 3 copies at chromosome 21
  • strabismus
  • keratoconus
  • high refractive error
  • accommodative insufficiency
  • cataracts
  • nasolacrimal duct obstruction
  • blepharitis
  • nystagmus
• trisomy 18- edwards syndrome

  • 3 copies of chromosome 18
  • ocular hypertelorism
  • palpebral folds
  • epicanthal folds
  • ptosis
  • inability to close eyes completely
  • clouding of cornea
  • cataracts
  • micophthalmia
  • strabismus
  • nystagmus
• trisomy 13 - patau syndrome

  • 3 copies of chromosome 13
  • anopthalmos, microphthalmos
  • hypo or hypertelorism
  • abnormal eyelashes
  • aniridia
  • congential cataracts
  • iris coloboma
  • deep set eyes
  • optic atrophy
  • retinal dysplasia
• survival rates with trisomy 18 and 13


  • not lots of survival
• amblyopia

  • unilateral, rarely bilateral, reduced visual acuity not caused by anything in particular
  • stimulus/ deprivation amblyopia caused by constant monocular occlusion ie cataracts or ptosis
  • anisometropic amblyopia - unequal refractive error, can occur from differences of 1D
  • ametropic amblyopia - high refractive errors usually symmetrical, more hypermetropic rx
  • astigmatic/ meridional amblyopia - image blur in one meridian, uni or bilateral, caused by uncorrected astigmatism
  • strabismic amblyopia - one eye which fixates rather than 2, risk dependent on whether constant, alternating or intermittent
• treatment of amblyopia

  • earlier intervention - quicker treatment
  • genrally considered to be treatable up to 8 years old
  • small risk of occlusion or reversal amblyopia
  • combination of glasses and patching >4 hours a day may have little added benefit, dont occlude in nystagmus as can make movement worse