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Abnormal Ocular Conditions > Paediatric Ophthalmology > Flashcards

Paediatric Ophthalmology Flashcards

1
Q

What is anophthalmia?

A

Lack of any globe structure

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2
Q

What is microphthalmos?

A

Small/underdeveloped eye

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3
Q

What is nanopthalmos?

A

Abnormally small eyes
Usually hyperopic and shallow corneas
Structurally normal

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4
Q

What is crytophthalmos?

A

Skin is continuous over the eyes - no lids, lashes or glands

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5
Q

What is the most common cause of congenital ptosis?

A

Underdevelopment of levator palpebrae muscle

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6
Q

What is the treatment for congenital ptosis?

A

Surgery if visual development threatened, otherwise wait until adult (better outcomes)

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7
Q

What is Mobius syndrome?

A

Congenital neurological condition causing facial paralysis due to underdevelopment of CNVI and VII

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8
Q

What are some signs of Mobius syndrome?

A

Inability to move eyes laterally
Strabismus
Corneal erosion (difficulty blinking)

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9
Q

What is Marcus Gunn Jaw Winking Syndrome?

A

Ptosis which improves on jaw movement

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10
Q

Which parts of the eye can be affected by coloboma?

A

Lid
Iris
Lens
Retina
Macular
Optic nerve
Uvea

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11
Q

What is the treatment for a coloboma?

A

Maximising existing vision

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12
Q

What is Morning Glory Anomaly?

A

Congenital optic nerve abnormality
Central glial tuft with peripapillary pigmentation

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13
Q

What are some signs of morning glory abnormality?

A

Enlarged blind spot
Reduced VA
Leukocoria

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14
Q

What is megalocornea?

A

Cornea >13mm
Congenital

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15
Q

What other features may be present in megalocornea?

A

Ciliary body and lens also enlarged
Myopia
WTR astigmatism
Ectopia lentis

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16
Q

What are pxs with megalocornea more likely to develop?

A

Cataracts
Secondary glaucoma (pigment dispersion/iris transillumination from iris/lens chaffing)

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17
Q

What is sclerocornea?

A

Bilateral but asymmetric corneal opacification

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18
Q

What is aniridia associated with?

A

Foveal hypoplasia
ON hypoplasia
Glaucoma
Nystagmus
Reduced VA

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19
Q

What is corectopia? What is associated?

A

Pupil displacement
High myopia and ectopia lentis associated

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20
Q

What is polycoria?

A

Multiple pupils

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21
Q

What can heterochromia be a sign of?

A

Horner’s syndrome
Sturge-Weber syndrome
Tuberous sclerosis

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22
Q

How many babies are born with congenital cataracts?

A

3-4 in 1000

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23
Q

What can cause congenital cataract?

A

Genetic
Injury
Infection during pregnancy or after birth

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24
Q

If congenital cataracts are removed, what is there a lifetime risk of?

A

Glaucoma

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25
What can ectopia lentis be a sign of?
Systemic disease
26
What can ectopia lentis result in?
ACG Significant refractive shifts Retinal damage
27
What is optic nerve hypoplasia?
Malformation of the optic nerve (reduced number of axons) Uni or bilateral Sometimes sectoral
28
Does optic nerve hypoplasia affect VA?
Depends on level of underdevelopment
29
What is Leber Congenital Amaurosis?
Autosomal recessive disorder causing severe VI/blindness from birth
30
What are the signs of Leber Congenital Amaurosis?
Poor visual response Nystagmus Eye poking Extreme hyperopia
31
Which retinal cells are affected by retinitis pigmentosa?
Photoreceptors
32
What can congenital nystagmus be associated with?
Albinism Congenital cataracts Retinal disorders
33
What are the signs of retinitis pigmentosa?
Night blindness Peripheral vision loss leading to central vision loss
34
How is a colour vision deficiency inherited?
X-linked
35
What is anomalous trichrimacy?
One type of cones does not respond normally to the light wavelength that it should
36
What is dichromacy?
One type of cone cell doesn't work - colour perception affected
37
What is achromatopsia?
No cones work, so no colour vision at all. Only rods work
38
What is monochromacy?
Only one type of cones work.
39
How is retinoblastoma inherited?
Autosomal dominant
40
Why is the incidence of retinoblastoma increasing?
Higher survival rate means passed onto next generation
41
What are the signs of retinoblastoma?
Leukocoria Strabismus Red/sore/swollen eye Iris colour change Reduced vision White, round retinal mass
42
What can happen if retinoblastoma isn't treated?
Spread to bone marrow, liver and lungs
43
What is the treatment for retinoblastoma?
Laser treatment Cryotherapy Radiotherapy Chemotherapy Enucleation
44
What are the differential diagnoses for retinoblastoma?
Coloboma Retinopathy of prematurity RD Toxocariasis Congenital cataract Coats disease
45
What is retinopathy of prematurity?
Abnormal retinal blood vessel growth
46
What are the RFs for ROP?
Born before 32 weeks Low birth weight (<1501g) Prolonged oxygen treatment (incubation)
47
What are the methods of classifying ROP?
Zones (1-3, lower number = more central) Stages (1-5, with plus)
48
What is Stage 1 ROP?
Demarcation line between avascular and vascularised retina
49
What is Stage 2 ROP?
Ridge elevated from demarcation line
50
What is Stage 3 ROP?
Extraretinal fibrovascular proliferation (neovasc from ridge into vitreous)
51
What is Stage 4 ROP?
Partial RD (foveal or extrafoveal)
52
What is Stage 5 ROP?
Total RD (funnel shaped, usually tractional, subdivided based on ON visibility and anterior abnormalities)
53
What does plus mean for the stages of ROP?
Vessels tortuous and dilated in at least 2 quarters RF for progression
54
When is treatment given for ROP?
Any ROP in zone 1 with plus disease Stage 3 or above in other zones
55
What is the treatment for ROP?
Laser ablation Anti-VEGF
56
What is ophthalmia neonatorum?
Conjunctivitis within 1 month of birth
57
What is the main RF for ophthalmia neonatorum?
Maternal STD (chlamydia most common)
58
What are retinal haemorrhages in a baby a sign of?
Non-accidental head injury (shaken baby syndrome)
59
What intrauterine infections can result in ocular complications?
Toxoplasmosis Rubella Syphilis Lymphocytic Choriomeningitis Virus Cytomegalovirus HSV Varicella Zoster
60
What are the types of albinism and how are they inherited?
Ocular - X-linked recessive Oculocutaneous - Autosomal recessive
61
What are the ocular signs of albinism?
Reduced VA Photophobia Nystagmus Iris hypopigmentation/transillumination Foveal hypoplasia Fundus hypopigmentation Abnormal ant seg development No chiasmal crossing of nasal retinal fibres (seen on VEP) Inner retinal layers absent/PR layer bulging upwards (seen on OCT)
62
How should albinism be treated?
Correct refractive error Tinted glasses Surgery if strab
63
What is defective in those with Marfan's syndrome?
Fibrillin gene (results in stretchier tissue)
64
What are some ocular signs of Marfan's syndrome?
Ectopia lentis High myopia/astigmatism Increased axial length Iris/lens trembling Iris transillumination Small pupils which poorly dilate Decreased corneal curvature Scleral thinning RDs
65
How often should pxs with Marfan's be tested and why?
Yearly To monitor for ectopia lentis, cataract, glaucoma, RD
66
What is neurofibromatosis?
Genetic condition causing tumours to grow along nerves e.g. optic pathway glioma Lisch nodules on iris
67
What is Stickler's syndrome?
Genetic condition affecting collagen
68
What are the ocular signs of Stickler's syndrome?
Axial myopia RD Retinal holes and giant tears Cataract Astigmatism Vitreous degeneration Strab Glaucoma
69
What is Edward's syndrome/trisomy 18?
3 copies of chromosome 18 Poor survival rate
70
What are the ocular signs of Edward's syndrome?
Eyes far apart Palpebral and epicanthal folds Ptosis Unable to completely close eyes Cloudy cornea Cataract Microphthalmia Strab Nystagmus
71
What is Patau syndrome/trisomy 13?
3 copies of chromosome 13 Poor survival rate
72
What are the ocular signs of Patau syndrome?
Anophthalmos/microphthalmos Eyes far apart or closer together Abnormal lash morphology Aniridia Congenital cataract Deep set eyes Iris coloboma Optic atrophy Retinal dysplasia

Abnormal Ocular Conditions (11 decks)

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