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2025 Therapeutics > Congenital Anomalies > Flashcards

Congenital Anomalies Flashcards

(44 cards)

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1
Q

Patient presents with

Drooping lid, reduce levator function and blurred vision.

What condition is this?

A

Congential Ptosis

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2
Q

What conditions are associated with congenital ptosis?

A

Sturge Weber Syndrome and
Foetal Alcohol Syndrome

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3
Q

What is the management for mild congenital ptosis

A

no treatment required, observation only

3-12 monthly review for amblyopia

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4
Q

What is the management for severe congenital ptosis

A

Refer for surgery (usually at 3 – 4 years of age )

2–4-week post op check

Regular review (risk: require further surgery

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5
Q

Patient presents with the following: What condition is this?

absence of ocular remnant.

A

Anophthalmia

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6
Q

Patient presents with the following: What condition is this?

small malformed eye with reduced axial length.

A

Microphthalmia

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7
Q

What abnormalities are associated with Microphthalmia or anophthalmia

A

corneal changes, ectopia lentis, cataract, retinal dysplasia. Hyperopia or myopia

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8
Q

What is the management for Microphthalmia or anophthalmia

A
  1. Early paediatric and ophthalmic exam (usually has a systemic association) including ultrasound and CT
  2. Refractive correction + prevention/management of amblyopia (aggressive)
  3. Monitoring: ACG and amblyopia
  4. Genetic counselling: inheritance patterns and recurrence risk
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9
Q

What is the management for congenital cataracts?

A

Bilateral: surgery with 4-6 weeks of age

Unilateral: surgery immediately / days after birth (higher amblyopia risk)

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10
Q

What is the management after congenital cataract surgery

A
  1. Optical correction + anti – amblyopia therapy
  2. Monitor for PCO, glaucoma, RD
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11
Q

What is the management for childhood glaucoma?

A

Medication: IOP control and oedema (insufficient) (CONTRAINDICATED: BRIMONIDINE)

Angle surgery: goniotomy or trabeculectomy
(high success)

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12
Q

Patient presents with the following: What condition is this?

facial hypoplasia and dental hypoplasia

A

Axenfeld – Rieger Syndrome: disorder of anterior segment development (genetic mutation)

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13
Q

Management plan for Axenfeld – Rieger Syndrome

A

IOP controlling medications
(CONTRAINDICATED: BRIMONIDINE)

Angle surgery: trabeculectomy

Require ongoing genetic counselling and systemic follow up

Monitor for glaucoma (lifelong)
Collaborative care with multidisciplinary team

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14
Q

Patient presents with the following: What condition is this?

reduced melanin causing nystagmus, focal hyperplasia

A

Ocular albinism

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15
Q

Management for ocular albinism

A
  1. Genetic testing for accurate diagnosis and syndromic association.
  2. Specs and visuals aids (early intervention is essential)
  3. Regular eye test
  4. Cancer screening for UV malignancies
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16
Q

Management for eyelid coloboma

A
  1. lubricating eyedrops for exposure keratitis
  2. Monitor regularly for corneal damage
  3. Refer for eyelid reconstruction (early intervention reduces risk of corneal damage)
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17
Q

Management for Iris coloboma

A
  1. Cosmetic contact lens (glare reduction)
  2. Surgical correction
  3. Monitor for glaucoma or worsening glare
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18
Q

Management for lens coloboma

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A
  1. spectacle correction
  2. Monitor for subluxation and cataracts
19
Q

Management for chorioretinal coloboma

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A
  1. low vision aids
  2. RD associated: refer for repair
  3. Review 6-12 monthly: DFE to monitor for RD or CNV
20
Q

Management for Optic nerve coloboma

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A
  1. No direct treatment
  2. Manage associated findings e.g. CNV
  3. Monitor for progression with OCT and fundus imaging
21
Q

Patient presents with the following: What condition is this?

congenital anomalies of the optic nerve. Usually, inferotemporal or nasal. May have associated optic disc maculopathy.

Study These Flashcards
A

Optic Disc Pits:

22
Q

Management for optic disc pits

Study These Flashcards
A
  1. Laser photocoagulation
  2. Pars Plana Vitrectomy
  3. Macula buckling
  4. Intravitreal gas injection
  5. Self monitor with Amsler grid
  6. 6-12 monthly reviews with OCT imaging
23
Q

Patient presents with the following: What condition is this?

underdevelopment of the optic nerve

  • Poor VA
    nystagmus
  • Strabismus (esotrophia)
  • RAPD (unilateral cases)
  • Developmental delays
Study These Flashcards
A

Optic Nerve Hypoplasia:

24
Q

management of Optic Nerve Hypoplasia

Study These Flashcards
A
  1. Neurological + Endocrinology assessment for CNS anomalies and pituitary dysfunction
  2. Optical correct + anti – amblyopia therapy
  3. Consider strabismus surgery for binocular vision
25
Patient presents with the following: What condition is this? Leukocoria, strabismus, uveitis, nodular masses, orbit swelling (late stage)
Retinoblastomas
26
management of retinoblastomas
1. Intravenous chemotherapy (primary) 2. Focal therapy: laser, cryotherapy (limited evidence) 3. Enucleation (advanced cases) 1. Consider assessment under asthenia in early years 2. Lifelong review: Hereditary cases: genetic counselling and routine systemic follow up risk of developing second cancers
27
What are the risk factors of ROP
* Low birth weight (<1.5kg) * Gestational age (<30 weeks) * Oxygen supplementations (linked to damage to the retina)
28
Describe ROP pathophysiology
impaired retinal vascular development in premature infants leading to retinal hypoxia. Retinal vascular development begins at the ON and extend to the peripheral at 38 weeks
29
What are the stages of ROP
1. Demarcation line between vascular and avascular retina 2. Ridge formation at demarcation line 3. Extraretinal fibrovascular proliferation 4. Partial retinal detachment 5. Total retinal detachment
30
Management of ROP
1. Screening begins at 31-weeks gestational age or 4 weeks after birth BIO with scleral indentation (gold standard); or RetCam (via telehealth) 2. Laser Photocoagulation and/ or Anti VEGF bevacizumab (Avastin) injections 1 week Post op review 3. Long term monitoring: strabismus, myopia, RD
31
Patient presents with the following: What condition is this? nystagmus, sluggish/absent pupil response, poor fixation, fundus changes, flat ERG (gold standard)
Leber’s Congenital Amaurosis:
32
Leber’s Congenital Amaurosis management
1. Genetic counselling + therapy: Luxturna Genetic testing for family members 2. Low vision aids 3. Retinal prosthesis trials 4. Experimental stem cell therapy 5. Monitor regularly for progression
33
Patient presents with the following: What condition is this? pregnant, vasospasm, hb, exudates, possible serous detachments.
Preeclampsia – related Retinopathy:
34
Risk factors for Preeclampsia – related Retinopathy:
* First pregnancy * Obesity * Diabetes * History of hypertension * Family history
35
management of Preeclampsia – related Retinopathy
1. Delivery of the baby (definitive) 2. Antihypertensives (e.g. labetalol) 3. Monthly retinal exam until resolution: Monitor for retinal detachment
36
How does pregnancy effect DR?
pregnancy accelerates DR progression due increased hormones, increased vascular permeability and metabolic demands. Progression stops post – partum.
37
Management of pregancy DR
tight glucose control in the first trimester can influence DR progression. 2. Anti – VEGF injection when indicated 3. Laser photocoagulation (advanced cases) 4. Retinal screening each trimester (pre – existing DM cases) + post delivery review
38
Risk factors for Antenatal CSCR
* Pregnancy * Stress * Corticosteroids use * Type A personality
39
Managment of antenatal CSCR
1. Observation: spontaneous resolution 2. Photodynamic therapy (PDT – chronic cases) 3. Monthly review + OCT: until postpartum resolution
40
Risk factor for ANTENATAL Retinal vascular conditions
* Pre – eclampsia * Antiphospholipid syndrome
41
Management of ANTENATAL Retinal vascular conditions
1. Anti – VEGF for macula edema 2. Systemic anticoagulation if thrombophilia present 3. Monthly OCT; monitor for neovascularisation
42
Choriodal nevus during pregnancy Management
1. No treatment required: patient counselling (reversable post-partum) 2. Monitor for malignant transformation
43
Patient presents with the following: What condition is this? Pregnant, Retinal ischaemia, CWS
Amniotic Fluid Embolism and Retinal Ischemia
44
management of Amniotic Fluid Embolism and Retinal Ischemia
1. Intensive systemic manage to address DIC 2. Monitor for ischemic retinopathy Prognosis: poor systemically and visually

2025 Therapeutics (20 decks)

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