Congenital Abnormalities Flashcards
What does congenital, infantile and development mean?
Congenital - Present at birth
Infantile - Develops within the first 6 months of life
Developmental - Develops after birth though may be related to abnormality present at birth or appearing soon after
What is Ophthalmia Neonatorum (Newborn Conjuctivitis?
Conjunctivitis affecting a newborn within first month of life.
What is the aietiology of Ophthalmia Neonatorum (Newborn Conjuctivitis)?
A bacterial, chlamydial or viral infection acquired during birth.
• Most commonly caused by Chlamydia trachomatis or Neisseria gonorrhoeae (sexually transmitted diseases).
What is treatment of Ophthalmia Neonatorum (Newborn Conjuctivitis?
Emergency referral required to Ophthalmologist for treatment with anti-viral / antibiotic drug.
What are the signs and symptoms of Ophthalmia Neonatorum (Newborn Conjuctivitis)?
Redness
• Mucopurulent discharge
• Lid oedema
• Conjunctival oedema (chemosis)
• Usually bilateral may be asymmetrical
• Cornea may be affected by N Gonorrhoeae – may be perforated.
What are the differential diagnoses of Ophthalmia Neonatorum?
OrbitalCellulitis
Periorbital/Preseptal cellulitis
Blockednasolacrimalduct
Allergic(Vernal)conjunctivitis
What are the symptoms of orbital cellulitis?
Redness, swelling and tenderness of lids, pain, double vision, blurred vision, proptosis, fever, general malaise.
Why is orbital cellulitis so sight threatening?
Can lead to meningitis, brain abscess, cavernous sinus thrombosis.
• Emergency referral – can be sight and life threatening.
What is Periorbital/Preseptal cellulitis
Infection of superficial lids and tissue around eye
What are the signs and symptoms of Periorbital/Preseptal cellulitis
Swollen and red lids, but no effects on vision and no proptosis
• More common and less serious than orbital cellulitis
• Can progress to orbital cellulitis
Why is Blockednasolacrimalduct common in babies
common in babies due to incompletely developed tear duct
What are the signs and symptoms of Blockednasolacrimalduct
Causes recurrent conjunctivitis, watery eyes (epiphora) and discharge.
• Usually self-resolves as the baby grows
• May cause infection of lacrimal sac (dacryocystitis), requiring antibiotics (urgently in newborn).
Why is vernal conjunctivitis not associated with babies
Bad what are the symptoms
Unusual in small babies
• Watery, red, itchy eyes
What is Retinopathy of Prematurity (ROP)
32weeksgestationorbirthweight<1.5kg
• Due to birth before complete development of retinal
circulation into the periphery
• Retinal hypoxia triggers release of growth factors which cause neovascularisation and tortuosity.
• Can be exacerbated by supplemental oxygen
What can Retinopathy of Prematurity (ROP) cause
Can be severe and cause vitreous haemorrhage, scarring, and can lead to myopia, strabismus, retinal detachment, visual impairment, acute glaucoma
• Premature babies screened regularly by Ophthalmologist
• Treatment (if necessary) laser of peripheral retina.
How does Retinopathy of Prematurity (ROP look?
How does mild ROP look?
Demarcation of vacularised retina and avasicularised Retina
How does advanced ROP look?
Tortuosity of new blood vessels
full detachment of retina
How does advanced ROP look?
Tortuosity of new blood vessels
full detachment of retina
What is another stage ROP called? And what are the signs
Venous dilation, arteriolar tortuosity, iris vascular engorgement, poor pupillary dilation, vitreous haze indicate more severe active ROP.
• Known as ‘plus disease’
• E.g. ‘Stage 2+ = stage 2 with plus disease.
CAN YOU PUT IN CORRECT ORDER OF SEVERITY?
D- Demarcation line seen between vascularised and non-vascularised areas (mild ROP, stage 1/5)
B - Ridge has formed between areas, tufts of new vessels are forming at boundary, growing into vitreous. Venous tortuosity seen. This is moderate ROP requiring treatment (stage 3/5).
C-Partial retinal detachment (stage 4/5
A Complete retinal detachment (stage 5/5)
What is Anophthalmia
absence of eye)
• Unilateral or bilateral
• In isolation or part of a syndrome
What is Anophthalmia
absence of eye)
• Unilateral or bilateral
• In isolation or part of a syndrome
What is Microphthalmia
Microphthalmia (small eye)
• Associated with hyperopia, cataract, persistent hyperplastic primary vitreous, retinal dysplasia
• Causes strabismus, glaucoma, nystagmus
What is Buphthalmos
enlarged eye)
• Usually due to congenital
glaucoma
• Most bilateral
• Untreated will lead to eventual blindness.
• Symptoms of CAG: hazy vision, excessive lacrimation, photophobia
• Signs: bulging eye, increased IOP, distortion of the optic disc, corneal oedema, enlarged cornea, myopia, strabismus.
What are causes of leukocoria (white pupillary reflex )
Persistent hyperplastic primary vitreous
Congenital cataract
Coats disease
Advanced ROP
RETINOBLASTOMA
COLOBOMA
What is Persistent hyperplastic primary vitreous
Caused by failure of embryological primary vitreous and hyaloid vasculature to regress.
What is Congenital cataract
unilateral, usually sporadic. • If bilateral, usually inherited or
associated with conditions such as trisomy (e.g. Down’s syndrome), hypoglycaemia, infectious diseases (e.g. toxoplasmosis, Herpes Simplex), and prematurity.
What is coats disease
Inner retinal capillaries develop abnormally
• Dilated tortuous vessels and aneurysms.
• Vessels leak to form exudates.
• Can lead to retinal detachment and secondary
glaucoma.
• Usually unilateral
• Symptoms usually begin in first decade with blurred
vision, floaters, photopsia
What is retinoblastoma
Rare
• Onset usually before 3 years
• Malignant transformation of primary retinal cells
• Also presents with strabismus and secondary glaucoma
• Sight-threatening and life threatening
What is coloboma
Failure of the ectodermal optic vesicle fissure to fully close
Unilateral or bilateral
, Anterior segment colobomas
– cornea, eyelid, ciliary body, lens
• Posterior segment colobomas choroid, retina, (can cause leukocoria), optic nerve
• Posterior segment coloboma associated with VF defect
What is Anisocoria
––difference in pupil size between eyes
What could be the cause it a person had an abnormally large pupil
Aniridia,
– Holmes Adie’s pupil, – Third nerve palsy
What causes small pupils
– Horner’s Syndrome interception to sympathetic nerve system
Anomalies of shape
– Iris coloboma,keyhole shape
– Ectopic pupil (pupil displaced from normal position)
What is Port-wine stain
30% develop ipsilateral glaucoma where bvs blocked drainage of aqueous - check IOP
birth mark I caused by congenital vascular abnormality
what is Persistent Pupillary Membrane
Remnants of a foetal membrane iris material
• Common
• Rarely impact on vision
What is ptosis
Drooping lid
Risk of amblyopia
What idd as Marcus Gunn
Marcus Gunn jaw winking syndrome
• Branch of mandibular division of 5th nerve misdirected to levator
• Retraction ptotic lid on chewing, opening mouth, contralateral jaw movement
What is infantile esotropia
Onset before 6 months
• Constant large angle esotropia
• Cross fixation common
• Amblyopia is infrequent
What are Neurogenic palsies
Congenital lesions
– III, IV, VI nerve paresis
• Mechanical Palsies (Brown’s, Duane’s)
• Nystagmus
What is optic disc coloboma
• Bowl shaped excavation, may be mistaken for glaucoma.
What is Morning glory syndrome
Visual acuity very poor
• Disc posterior to globe, blood vessels radiate from disc centre, core of glial tissue.
What is optic nerve head pit
Grey depression of ONH
• Associated with arcuate scotomas, often asymptomatic
• Can cause serous macular detachment later in life.
What is the most common optic nerve abnormality
Optic Nerve Hypoplasia
• Commonest optic nerve anomaly
• Isolated or associated with endocrinopathies (hormone deficiencies), developmental delay, and brain malformations
• Small grey discs, fewer axons
• Tortuous vessels
• VA from no light perception to near normal.
• Associated with nystagmus and strabismus
