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Congenital Abnormalities > Congenital Abnormalities > Flashcards

Congenital Abnormalities Flashcards

1
Q

What does congenital, infantile and development mean?

A

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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2
Q

What is Ophthalmia Neonatorum (Newborn Conjuctivitis?

A

Conjunctivitis affecting a newborn within first month of life.

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3
Q

What is the aietiology of Ophthalmia Neonatorum (Newborn Conjuctivitis)?

A

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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4
Q

What is treatment of Ophthalmia Neonatorum (Newborn Conjuctivitis?

A

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

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5
Q

What are the signs and symptoms of Ophthalmia Neonatorum (Newborn Conjuctivitis)?

A

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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6
Q

What are the differential diagnoses of Ophthalmia Neonatorum?

A

OrbitalCellulitis

Periorbital/Preseptal cellulitis

Blockednasolacrimalduct

Allergic(Vernal)conjunctivitis

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7
Q

What are the symptoms of orbital cellulitis?

A

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

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8
Q

Why is orbital cellulitis so sight threatening?

A

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

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9
Q

What is Periorbital/Preseptal cellulitis

A

Infection of superficial lids and tissue around eye

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10
Q

What are the signs and symptoms of Periorbital/Preseptal cellulitis

A

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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11
Q

Why is Blockednasolacrimalduct common in babies

A

common in babies due to incompletely developed tear duct

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12
Q

What are the signs and symptoms of Blockednasolacrimalduct

A

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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13
Q

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

A

Unusual in small babies
• Watery, red, itchy eyes

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14
Q

What is Retinopathy of Prematurity (ROP)

A

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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15
Q

What can Retinopathy of Prematurity (ROP) cause

A

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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16
Q

How does Retinopathy of Prematurity (ROP look?

A
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17
Q

How does mild ROP look?

A

Demarcation of vacularised retina and avasicularised Retina

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18
Q

How does advanced ROP look?

A

Tortuosity of new blood vessels
full detachment of retina

19
Q

How does advanced ROP look?

A

Tortuosity of new blood vessels
full detachment of retina

20
Q

What is another stage ROP called? And what are the signs

A

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.

21
Q

CAN YOU PUT IN CORRECT ORDER OF SEVERITY?

A

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)

22
Q

What is Anophthalmia

A

absence of eye)
• Unilateral or bilateral
• In isolation or part of a syndrome

23
Q

What is Anophthalmia

A

absence of eye)
• Unilateral or bilateral
• In isolation or part of a syndrome

24
Q

What is Microphthalmia

A

Microphthalmia (small eye)
• Associated with hyperopia, cataract, persistent hyperplastic primary vitreous, retinal dysplasia
• Causes strabismus, glaucoma, nystagmus

25
Q

What is Buphthalmos

A

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.

26
Q

What are causes of leukocoria (white pupillary reflex )

A

Persistent hyperplastic primary vitreous

Congenital cataract

Coats disease

Advanced ROP

RETINOBLASTOMA
COLOBOMA

27
Q

What is Persistent hyperplastic primary vitreous

A

Caused by failure of embryological primary vitreous and hyaloid vasculature to regress.

28
Q

What is Congenital cataract

A

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.

29
Q

What is coats disease

A

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

30
Q

What is retinoblastoma

A

Rare
• Onset usually before 3 years
• Malignant transformation of primary retinal cells
• Also presents with strabismus and secondary glaucoma
• Sight-threatening and life threatening

31
Q

What is coloboma

A

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

32
Q

What is Anisocoria

A

––difference in pupil size between eyes

33
Q

What could be the cause it a person had an abnormally large pupil

A

Aniridia,
– Holmes Adie’s pupil, – Third nerve palsy

34
Q

What causes small pupils

A

– Horner’s Syndrome interception to sympathetic nerve system
Anomalies of shape
– Iris coloboma,keyhole shape
– Ectopic pupil (pupil displaced from normal position)

35
Q

What is Port-wine stain

A

30% develop ipsilateral glaucoma where bvs blocked drainage of aqueous - check IOP

birth mark I caused by congenital vascular abnormality

36
Q

what is Persistent Pupillary Membrane

A

Remnants of a foetal membrane iris material
• Common
• Rarely impact on vision

37
Q

What is ptosis

A

Drooping lid

Risk of amblyopia

38
Q

What idd as Marcus Gunn

A

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

39
Q

What is infantile esotropia

A

Onset before 6 months
• Constant large angle esotropia
• Cross fixation common
• Amblyopia is infrequent

40
Q

What are Neurogenic palsies

A

Congenital lesions
– III, IV, VI nerve paresis
• Mechanical Palsies (Brown’s, Duane’s)
• Nystagmus

41
Q

What is optic disc coloboma

A

• Bowl shaped excavation, may be mistaken for glaucoma.

42
Q

What is Morning glory syndrome

A

Visual acuity very poor
• Disc posterior to globe, blood vessels radiate from disc centre, core of glial tissue.

43
Q

What is optic nerve head pit

A

Grey depression of ONH
• Associated with arcuate scotomas, often asymptomatic
• Can cause serous macular detachment later in life.

44
Q

What is the most common optic nerve abnormality

A

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

Congenital Abnormalities (1 decks)

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