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Therapeutics > Week 12 - Congenital Anomalies > Flashcards

Week 12 - Congenital Anomalies Flashcards

1
Q

List the aspects of a Full Paediatric Eye Examination

A

History
VA
Assessment of eye alignment (nystagmus, ability to fix and follow object)
Stereopsis
Motor fusion
Pupil evaluation (size, shape, symmetry, direct, consensual and afferent)
Red reflex
Visual inspection of the eye
Dilated fundus examination (may need to be done under sedation)

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2
Q

Which group of infants are at high risk of congenital anomalies?

A

Premature < 30 weeks’ gestational age (ROP)

Positive family history of:
* Retinoblastoma
* Congenital, infantile or juvenile cataracts
* Juvenile glaucoma
* Retinal abnormalities especially retinal dystrophies

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3
Q

Which conditions can manifest at birth or very early on?

A
  • Infantile cataract
  • Congenital glaucoma
  • Retinoblastoma
  • Lid abnormalities
  • Retinopathy of prematurity (ROP
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4
Q

What is equipment is required for screening in children?

A
  • Penlight
  • Transilluminator
  • Hand-held biomicroscope
  • Slit lamp (flying baby technique)
  • Burton lamp and NaFl
  • 20D lens with light source
  • Measuring IOP on indication
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5
Q

Describe the step of Bruckner Test

A

Direct ophthalmoscope on the large spot - arm lenght for px

Point light at px’s nose. Adjust lenght until both pupils have red reflex

Compare size, shape, colour, brightness

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6
Q

What are signs can be seen when looking at the ocular adenexae?

A

Strabismus

Inspect eyelids
* Erythematous eyelids, haemangiomas
* Trauma, infection, tumours, connective tissue disorders
* Ptosis
* Discharge
* Tearing
* Palpebral fissure
* Epicanthal folds

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7
Q

Consideration when prescribing drugs?

A

Dosage
Contraindictions/Precautions around kids

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8
Q

What do use for childrens dilation?

A

Cyclopentolate (preferred)
- 0.5% (>1year) - 1.0%
- 2.0% (AVOID - due to risk to toxicity)

Tropicamide
- less effect of hyperopes
- fast action and fast reversal (limited cyclo effect)
- 0.5 - 1.0%

may require 2 drops 5 minutes apart for either

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9
Q

Patient has Droopy upper eyelid. Present at birth or manifested in the first year of life. What condition?

A

Ptosis

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10
Q

What are complication of Ptosis?

A

Amblyopia
Astigmatism
Strabismys
Decrease VF

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11
Q

What are the 4 etiology for Congenital Ptosis?

A

Aponeurotic: trauma from forceps or through birth canal; lid low but generally
normal levator function and lid crease
* Myogenic: localized dystrophy of muscle tissue; the more fibrous tissue present, the
poorer the levator function
* Neurogenic: third nerve palsy or damage to sympathetic nerves of the orbit
* Marcus Gunn Jaw Winking Syndrome
* Type of congenital ptosis that includes an associated winking motion of the affected
eyelid on the movement of the jaw
* Branch of cranial nerve V misdirected during embryonic development and travels to the
lid when it innervates the levator
* When sucking or chewing muscles, activates the lid to flick open and gives appearance of
winking

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12
Q

What condition has these signs?
Droopy eyelid results from localized myogenic
dysgenesis

Unilateral or bilateral

Reduced visual acuity – amblyopia

Anisometropia – form deprivation myopia

A

Ptosis

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13
Q

What symptoms have this conditions?

Asymptomatic (most common)
Blurred vision (induced astigmatism)
Chin-up position (parental report)
Headache? Due to contraction of the frontalis
muscle to help elevate lid (compensation)

A

Ptosis

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14
Q

What features do you need to record for a Ptosis?

A

History: age at onse, congenital vs acquired, gestational age,
trauma at birth, other congenital anomalies, systemic illnesses

History of amblyopia or strabismus

Ocular motility

Iris heterochromia

Assess levator function

Any congenital malformations (possible due to lid anatomy)

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15
Q

What are DDx for Ptosis?

A

Anophthalmos
Microphthalmos
Corneal abrasion
Orbital cellulitis
Pseudoptosis

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16
Q

Management for Ptosis

A
  1. Observation only in mild cases (no strab, amblyopia or abnormal head movement) 3 - 12 monthly reviews
    - monitor for amblyopia, exclude other causes CN3 palsy, Horners
  2. Refer to Surgical correction (usually delayed until 3-4 years)
    - every 2-4 weeks for signs of exposure,
    keratopathy, infection, granuloma formation, and over/under correction
    - monitor VA, head posture, and refractive error
    - treat any residual amblyobia aggressively
  3. May require repeat surgery in 8 - 10 years later
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17
Q

Patient presents with a rare, bilateral, reduce volume of eye.

+/- coloboma and orbital cyst

+/- blindness and learnign disabilities.

What condition is this?

A

MICROPHTHALMIA

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18
Q

Risk factor for Microphthalmia?

A
  • Maternal age over 40,
  • Multiple births,
  • Infants of low birth weight and/or low gestational age,
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19
Q

Microphthalmia etiology?

A

Likely caused by disturbances of the morphogenetic
pathway that controls eye development

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20
Q

These symptoms are consistent this which condition?

Small or absent eyes noted at birth (maybe be
diagnosed during pregnancy ultrasound or CT
scan)
Nystagmus
Cataracts
Coloboma

A

Microphthalmia

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21
Q

What signs do you expect in Microphthalmia

A

Anatomical malformation and whose axial length is
two standard deviations below the mean for age

Associated Ocular abnormalities are microcornea, corneal
opacification, corectopia, ectopia lentis, aniridia,
cataract, persistent fetal vasculature and/or retinal
dysplasia

Good VA - if macular sparing.

High Ametropia (usually hyperopia)

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22
Q

DDx for MICROPHTHALMIA

A

Cryptophthalmos refers to completely
fused eyelid margins, without lashes.

Congenital cystic eye

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23
Q

Management for Micophthalmia?

A

1) Early examination and diagnosis (follow up any systemic conditions)
2) If there is retinal function - refraction, amblyopia treatment critical
3) Unilateral cases - protect fellow eye.
4) Socket expander for progressive growth (For 5 years) - 12 monthly review (monitor for pituitary abnormalities, and ACG)
4) Painted prosthesis if appropriate - 12 monthly review
5) Addition reconstruction if indication: primary orbital implant (in severe cases or anopthalmic or non seeing eyes)
6) Refer for developmental assessement by a paediatrician

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24
Q

Patient presents with the following: What condition is this?

Bilateral/Unilateral, common caused by a autosomal dominant genetic mutation, dense opacity of the crystalline len?

A

Congenital cataract

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25
Q

What signs do you expect to see in congenital cataractz?

A

Diagnosis based on density and morphology and visual behaviour ( child will no be able to tell you symptoms) - based on red reflex and ophthalmoscopy -

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26
Q

MORPHOLOGY Congenital Cataracts

A
  • Nuclear (confined to the embryonic or fetal nucleus are most common – can be dense or dust-like [pulverulent])
  • Lamellar or Zonular (affect a particular lamella of the lens both anteriorly and posteriorly resulting in a central,
    circumscribed opacity around the nucleus; can be genetic, metabolic disorders, intrauterine infection)
  • Coronary (lies in the deep cortex and surrounds the nucleus like a crown – usually sporadic)
  • Blue dot (common and innocuous)
  • Sutural (opacities follow the anterior or posterior Y suture)
  • Polar (central opacity near the lens capsule)
  • Anterior polar (flat or conical [pyramidal] opacity – if flat, central, < 3mm in diameter, usually visually insignificant; pyramidal
    surrounded by cortical opacity may affect vision)
  • Posterior polar (occasionally associated with persistent hyaloid remnants (Mittendorf dots), posterior lenticonus and persistent
    anterior fetal vasculature)
  • Central ‘oil’ droplet (characteristic of galactosaemia)
  • Membranous (rare, associated with Hallermann-Streiff-Francois syndrome; lenticular material is reabsorbed, leaving a
    chalky-white residual between the anterior and posterior capsule
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27
Q

Possible Congenital Cataracts Associated Signs:

A

Anterior segment (corneal clouding, microphthalmos, glaucoma, persistent anterior fetal
vasculature)
* Posterior segment (chorioretinitis, Leber amaurosis, rubella retinopathy, foveal/optic nerve
hypoplasia

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28
Q

Patient presents with the following: What condition is this?

Absence of central fixation, nystagmus (poor visual prognosis), strabismus

A

Congenital Cataracts

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29
Q

What are the differential diagnosis of Congenital Cataracts?

A

Conditions associated with leukocoria:
Retinoblastoma, persistent hyperplastic primary
vitreous, Coat’s disease

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30
Q

Management for congenital cataracts

A
  1. Refer for systemic investigation: if signs of intrauterine infection
    - urinalysis, fasting blood glucose
  2. Refer to paediatrician for suspected genetic disease
  3. May required cataract surgery (4-5 week old or later) ; partial cataract - surgery can be delayed. Unilateral cataract surgery (URGENT) followed by anti-amblyopia therapy (poor prognosis) >16 weeks age

May or may not insert IOL

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31
Q

Possible post cataract surgery complications

A
  • PCO
  • anterior vitreous opacification
  • secondayry membrane over pupil
  • proliferation of lens epithelium
  • ACG or SOAG
  • retinal detachment (uncommon(
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32
Q

Methods of visual rehab follow congential cataract surgery - aphakia

A

Spectacle - bilateral cases (risk of anisometropia and aniseikonia)
CL - risk of compliance issues
IOL - effective but risk of myopia due to developing eye (no guarantee on emmetropia in adulthood), risk of induced glaucoma

Occlusion / Atropine - treat and prevent amblyopia

33
Q

Management plan for congenital cataract surgery

A
  1. Not causing amblyopia, glaucoma, uveitis - Observation only
  2. Post surgery - monitor for complications, may need strabsmus surgery for EOM
  3. Ametropic correction and amblyopia as vision develops
34
Q

Patient presents with the following: What condition is this?

  • typically bilateral but asymmetrical
  • Angle anomaly (e.g. isolated trabeculodysgenesis) caused elevated IOP
  • Three variants
  • Newborn onset (0-1 month)
  • Infantile onset (>1-24 months)
  • Late onset or late recognized (>24 months)
  • visual loss occurs due to optic nerve damage, corneal opacities, cataracts and amblyopia
A

Childhood glaucoma

35
Q

What condition is consistent with these symptoms?

Classic triad: lacrimation, blepharospasm,
photophobia (due to raised IOP and resulting
corneal oedema)
Hazy cornea
Buphthalmos (unique to glaucoma in infancy due
to corneal and scleral collagen immaturity;
potential for corneal enlargement ceases at
around 3 years of age)

A

Childhood glaucoma

36
Q

What signs do you expect to see in childhood glaucoma?

A

Two or more required to make diagnosis
* IOP > 21 mmHg
* Optic disc cupping
* progressive NRR narrowing – focal or diffuse
* CD asymmetry of ≥0.2 when discs are same size
* Corneal findings
* Haab stria – pathognomonic for infantile glaucoma
* ridge of Descemet’s membrane after rupture
* Diffuse corneal oedema from influx of aqueous into stroma
* Corneal diameter ≥11mm in newborn, > 12mm in child up to 12
months of age, > 13 mm in any age
* Progressive myopia or myopic shift
* Other refractive errors – astigmatism from Haab striae and corneal stretching,
anisometropia in unilateral disease
* Amblyopia
* Reproducible visual field defect

37
Q

DEFINITION OF A
GLAUCOMA
SUSPECT (CHILD)

A

At least one required
IOP > 21 mmHg on two separate
occasions
Suspicious optic disc appearance
e.g. increase CD ratio for size of optic disc
Suspicious visual field
Increased corneal diameter or axial length
in setting of normal IOP

38
Q

What are the differential diagnosis of DDx?

A

Cornea enlargement
Corneal splits
Corneal oedema/opacity
Watering and red eye
Congenital ON cupping

39
Q

Management plan for childhood glaucoma

A
  1. Mainstay treament is angle surgergy
  2. IOP lowering medications can be used temporarily, may reduce corneal oedema (First line treatment in uveitis related, post cataract sx)
    - using minimum frequency and concentration to limit systemic absorption
    - brimonidine contraindicated
  3. Consider tube implant if angle surgery unsuccessful or trabeculectomy or cryoablation
  4. Review 1 month post surgery, ensure IOP is controlled and vision is rehabilitated (ametropic correction and amblyopia therapy)
  5. Review 3 monthly - ensure target IOP is maintained and visual development is evaluated
    - risk of relapse later in life
40
Q

Patient presents with the following: What condition is this?

  • anterior segment dysgenesis
  • corneal or iris defects
  • +/- glaucoma

other body systems
* Usually small teeth / fewer than normal teeth
* Distinctive facial features
* Umbilical abnormalities
* Heart defects
* sensory hearing loss

A

AXENFELD-RIEGER SYNDROME

41
Q

Etiology for Axenfeld - Rieger Syndrome

A

Defects in differentiation, migration, or arrested development
of neural crest cells in the Anterior chamber

42
Q

What signs do you expect to see in AXENFELD-RIEGER SYNDROME

A

Most common ocular manifestations (80-95% of
patients):
- Corectopia/ iris atrophy
- Posterior embryotoxon
(in some patients only visible with gonioscopy

Polycoria, ectropion uveae and increased IOP

43
Q

What condition is consistent with these symptoms?

Photophobia from iris atrophy/ pupil
abnormalities

Parents may notice middle craniofacial
dysmorphism, dental abnormalities, redundant
umbilical skin

May have: widely spaced eyes, flattened midface, broad flat nasal bridge, prominent forehead

A

AXENFELD-RIEGER SYNDROME

44
Q

What are the differential diagnosis of AXENFELD-RIEGER SYNDROME?

A

Iridocorneal Endothelial (ICE) Syndrome
Peter’s Anomaly
Aniridia

45
Q

Management plan for AXENFELD-RIEGER SYNDROME

A
  1. Mainstay treament is angle surgergy
  2. IOP lowering medications can be used temporarily, may reduce corneal oedema (First line treatment in uveitis related, post cataract sx)
    - using minimum frequency and concentration to limit systemic absorption
    - brimonidine contraindicated
  3. Consider tube implant if angle surgery unsuccessful or trabeculectomy or cryoablation
  4. Consider tinted CL if there is glare and photophobia from iris atrophy, polycoria and correctopia
  5. Review 1 month post surgery, ensure IOP is controlled and vision is rehabilitated (ametropic correction and amblyopia therapy)
  6. Refer to multidisciplinary team to examined for possible associated facial, dental, periumbilical and other anomalies. Consider genetic analysis for other family members.
  7. Regular review for glaucoma surveillance
46
Q

Patient presents with the following: What condition is this?
* severe and early visual impairment, sluggish
or absent pupillary responses and severely subnormal or non-detectible ERG
* congenital retinal dystrophies that results in severe vision loss at an early age
* d fundus abnormalities usually present later in
life
* a.k.a. congenital retinitis pigmentosa (RP)
* +/- keratoconus, cataracts

A

Leber’s Congenital Amaurosis (LCA)

47
Q

What signs do you expect to see in LCA?

A

Retinal appears almost normal at the start;
later pigmentary disturbance develop

Appearance varies from RP-like appearance to
RPE changes, chorioretinal atrophy, macular
coloboma, or a marbleized retinal appearance

VA ranges from no light perception (~1/3 cases)
to no better than 6/120, often with a hyperopic
refraction (more than +5.00D)

Electroretinography (ERG) responses are almost
undetectable

Up to 20% of children with LCA without
associated anomalies develop intellectual
disability

48
Q

What condition is consistent with these symptoms?
Photophobia

Nystagmus

Night blindness (RPE65 mutation)

Severe visual impairment beginning in infancy

Sluggish/ near absent pupil responses

A

Leber’s Congenital Amaurosis (LCA)

49
Q

What are the differential diagnosis of LCA?

A

Early-onset retinitis pigmentos
Achromatopsia
Ocular albinism
Congenital stationary night blindness
Intrauterine infection
Autoimmune retinopathy

50
Q

Management plan for LCA

A
  1. Refer for genetic testing
  2. Consider ophthalmic referral for gene therapy (if area within 100um of posterior role:
    - Luxturna Gene Therapy treat inherited retinal dystrophy involving the RPE65 gene
    - * Subretinal injection, adenoviral vector – delivers correct version of the mutated RPE65 gene to the retina
51
Q

Patient presents with the following: What condition is this?
* usually unilateral primary intraocular malignacy
* usually in younger patients (<5 years)

A

RETINOBLASTOMA

52
Q

What condition is consistent with these symptoms?

Leukocoria (‘strange reflection in my
child’s eye’ / loss of red reflex in photos)
* Eye misalignment (strabismus – when
central vision is lost)
* Advanced disease may present with iris
colour change, enlarged cornea and eye
due to increased pressure, or noninfective orbital inflammation
* Very late, the eye may bulge from the
orbit, a common presentation where
awareness and resources are inadequate

A

RETINOBLASTOMA

53
Q

What signs do you expect to see in Retinoblastoma

A
  • One/multiple nodular, white/cream masses often associated with
    increased vascularisation
  • Intraocular inflammation – similar appearance to cellulitis or
    endophthalmitis
  • Diagnosis of retinoblastoma does not rely on histopathologic
    examination since biopsy incurs risk of metastasis
  • Ocular ultrasonography (b-scan) – to detect size and calcification
  • MRI is used to assess invasion of the optic nerve
54
Q

What are the differential diagnosis of Retinoblastoma?

A

Coats’ disease
Persistent foetal vasculature
Vitreous haemorrhage
Cataract
Toxocariasis (chorioretinitis)
Retinopathy of prematurity

55
Q

Management of Retinoblastoma

A
  1. Check ICRB for best prognosis
  2. Consider:
    Enculeation
    Radiotherapy (no longer preferred)
    Chemotherapy (+/- focal therapies e.g. cryotherapy: note no RCT to support/refute)
56
Q

Follow up for Retinoblastoma px:

A
  1. Regular review and monitor for secondary tumor (cancers)
  2. Px with sparing treatment required more frequent review
    - 2 monthtly exam under GA until 3 years old, then extend interval beween follow ups as disease become inactive
57
Q

Patient presents with the following: What condition is this?

  • disorganized growth of retinal blood vessels, which may lead to scarring and
    retinal detachment
  • risk: low birth weight, (<1.5kg) gestastional age <30 weeks
A

RETINOPATHY OF PREMATURITY

58
Q

ROP Signs (early):

A
  • No symptoms
  • Signs of strabismus or leukocoria in the more affected eye
  • Vision loss
  • Screening of retina begins around 31 weeks’ postmenstrual age or 4 weeks after birth (BIO with scleral indentation - by ophthalmologist)
59
Q

What are the differential diagnosis of ROP?

A

Retinoblastoma
Congenital cataract
Persistent hyperplastic primary vitreous
Retinal detachment
Toxoplasmosis

60
Q

Management plan for ROP?

A
  1. Observation only - may resolve spontaneously (Stage 1/2)
  2. Consider laser photocoagulation or cryotherapy. Aim to prevent RD and blindness. Treat within 72 hours (URGENT referral)
  3. Follow up 307 day after treatment, monitor for regression.
  4. Monitor for possible RD, strabismus, myopia, astigmatism, reduced visual acuity,
    reduced peripheral vision
61
Q

Patient presents with the following: What condition is this?

  • imperfect closure of
    the edge of the embryonic fissure
  • Abnormal structure of the optic disc
A

Optic Disc Pits

62
Q

What condition is consistent with these symptoms?

  • Asymptomatic unless complicated by secondary
    macular changes
  • When maculopathy is present, visual acuity is
    usually reduced to 6/18 to 6/60 or worse
A

Optic Disc Pits

63
Q

What signs do you expect to see in optic disc pits?

A
  • Small, hypopigmented, grayish, oval or round
    excavated depressions in the optic nerve head
  • Visual field defects, most commonly an enlarged
    blind spot, and a paracentral arcuate scotoma
  • Maculopathy: serous detachment and/or
    retinoschisis of the central macula; accumulation
    of intraretinal and subretinal fluid and RPE
    changes
64
Q

What are the differential diagnosis of Optic Disc pits?

A

Optic disc anomalies (choroidal/ scleral crescent)
Tilted disc syndrome
Circumpapillary staphyloma
Hypoplastic disc
Glaucomatous optic neuropathy

65
Q

Management plan for Optic Disc pits?

A
  1. If Asymptomatic - 6-12 monthly monitoring for macular involvement, comprehensive eye exam including dilated retinal evaluations and
    threshold visual fields
  2. Advise on home VA assessment + Amsler grid self monitoring for maculopathy
  3. Symptomatic - referral for laser photocoagulation, Intravitreal gas injection, macula buckling, pars plana vitrectomy
66
Q

Patient presents with the following: What condition is this?

  • usually in 2 years old
  • may be found in blind infants
  • decreased number of optic nerve axons
    *unilateral or bilateral
  • +/- midline cerebral structural defect
  • +/- coexistening CNS abnormalities on MRI
A

OPTIC NERVE HYPOPLASIA

67
Q

What condition is consistent with these symptoms?

  • poor vision (normal - 6/60 or worse)
  • nystagmus
  • strabismus (typically esotropia)
    *systemic dysfunctions e.g. pituitary
    abnormalities, growth hormone deficiencies,
    hypothyroidism, endocrine dysfunction
    *Developmental delays such as motor and
    communication
A

OPTIC NERVE HYPOPLASIA

68
Q

What signs do you expect to see in optic nerve hypoplasia?

A

Optic disc often pale or gray, and appears to be
half the size of a normal optic disc or smaller

Double ring sign – yellow to white ring around
disc

May also present with tortuous retinal vessels

RAPD in unilateral or asymmetric cases

69
Q

What are the differential diagnosis of Optic Nerve Hypoplasia?

A

Optic nerve atrophy
Optic nerve coloboma
Peripapillary staphyloma
Morning glory disc anomaly
Tilted disc syndrome
Glaucoma

70
Q

Management plan for Optic Nerve Hypoplasia?

A
  1. Refer for neurological and developmental assessments
  2. MRI scan in all cases of optic nerve hypoplasia
  3. Strabsmus correction in case of symmetrical functional vision with potential for BV. Inilateral cases can be delayed
  4. Refraction for any amblyopia from astigmatism
  5. 3 monthly review for growth patterns, 12 monthly reveiw for assessment of visual function
71
Q

Patient presents with the following: What condition is this?

  • nystagmus
  • melanin defiency
    *poor vision
A

ALBINISM

72
Q

What condition is consistent with these symptoms?

Photophobia
Nystagmus
Strabismus
Poor vision

A

Ocular Albinism

73
Q

What signs do you expect to see in Albinism?

A

Iris transillumination (diagnostic feature)
Foveal hypoplasia Nystagmus
Hypopigmented fundus
Decreased visual acuity Poor vision
High refractive error
Photophobia
Strabismus
Nystagmus

74
Q

What are the differential diagnosis of Albinism?

A

Chediak - Higashi
Griscelli
Elajalde

75
Q

Management plan for Albinism

A
  1. Refer for evaluation for systemic syndrome
  2. Low vision aids, correct refractive errors/amblyopia. may need strab surgery
  3. Consider Genetic testing and counselling
  4. Regular review - monitor for SCC or BCC
76
Q

Patient presents with the following: What condition is this?

  • ocular defect on an ocular structure
    *usually in the inferonasal quadrant of the affected structure
  • +/- cataracts , pigment deposits, subcapsular, cortical, anterior
    and posterior polar, and total opacification

*+/- heart defects, choanal atresia, nervous system abnormalities, genital or urinary
tract anomalies, or ear malformations (CHARGE syndrome)

A

COLOBOMA

77
Q

What condition is consistent with these symptoms?

-Depends on structure affected; may be asymptomatic
- Coloboma of iris/ eyelid noticeable to parents
- Typically seen at or soon after birth
- Eyelid coloboma may be minimal at birth and not appreciated until later in childhood
- Coloboma of macula or optic nerve can result in reduced vision
- VF defect
- photophobia

A

COLOBOMA

78
Q

Read DDX and managment for Coloboma

A

Read DDX for Coloboma

79
Q

What signs do you expect to see in Coloboma?

A

Eyelid coloboma are usually found in the upper eyelid
Lens coloboma is seen as flattening of the equator of
the lens in an area of absence of zonular fibres
- Typically an incidental finding on DFE

Iris coloboma is a defect in iris tissue, typically
inferiorly

Retinal coloboma is seen as an area of whitening often
with pigment deposition at the junction of the
coloboma and normal retina

Optic nerve coloboma has a range of appearance from
physiological cupping to extensive retinal involvement

Therapeutics (10 decks)

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