Congenital Abnormalities Flashcards by Eda A

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

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What is Ophthalmia Neonatorum (Newborn Conjuctivitis?

Conjunctivitis affecting a newborn within first month of life.

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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).

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What is treatment of Ophthalmia Neonatorum (Newborn Conjuctivitis?

Emergency referral required to Ophthalmologist for treatment with anti-viral / antibiotic drug.

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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.

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What are the differential diagnoses of Ophthalmia Neonatorum?

OrbitalCellulitis

Periorbital/Preseptal cellulitis

Blockednasolacrimalduct

Allergic(Vernal)conjunctivitis

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What are the symptoms of orbital cellulitis?

Redness, swelling and tenderness of lids, pain, double vision, blurred vision, proptosis, fever, general malaise.

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Why is orbital cellulitis so sight threatening?

Can lead to meningitis, brain abscess, cavernous sinus thrombosis.
• Emergency referral – can be sight and life threatening.

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What is Periorbital/Preseptal cellulitis

Infection of superficial lids and tissue around eye

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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

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Why is Blockednasolacrimalduct common in babies

common in babies due to incompletely developed tear duct

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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).

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Why is vernal conjunctivitis not associated with babies
Bad what are the symptoms

Unusual in small babies
• Watery, red, itchy eyes

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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

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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.

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How does Retinopathy of Prematurity (ROP look?

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How does mild ROP look?

Demarcation of vacularised retina and avasicularised Retina

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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