Podcast
Questions and Answers
What is the predominant cause of visual loss in childhood and early teens?
What is the predominant cause of visual loss in childhood and early teens?
Which feature is often characteristic of a baby with tyrosinase-negative albinism?
Which feature is often characteristic of a baby with tyrosinase-negative albinism?
At what age does the foveal region of the retina reach adult maturity?
At what age does the foveal region of the retina reach adult maturity?
What is the impact of early onset visual impairment on refractive error variability?
What is the impact of early onset visual impairment on refractive error variability?
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What recommendatory assessment is crucial when determining visual function in neonates?
What recommendatory assessment is crucial when determining visual function in neonates?
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Leber's hereditary optic neuropathy primarily affects which aspect of vision?
Leber's hereditary optic neuropathy primarily affects which aspect of vision?
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What strategy is recommended for a baby who is emmetropic or myopic at birth?
What strategy is recommended for a baby who is emmetropic or myopic at birth?
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What important consideration should be taken into account regarding the education of visually impaired youth?
What important consideration should be taken into account regarding the education of visually impaired youth?
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What is the inheritance pattern of abetalipoproteinaemia?
What is the inheritance pattern of abetalipoproteinaemia?
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Which of the following symptoms is NOT commonly associated with abetalipoproteinaemia?
Which of the following symptoms is NOT commonly associated with abetalipoproteinaemia?
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What is a key aspect of treatment for individuals with abetalipoproteinaemia?
What is a key aspect of treatment for individuals with abetalipoproteinaemia?
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What condition is associated with retinopathy and progressive spinocerebellar ataxia due to vitamin E deficiency?
What condition is associated with retinopathy and progressive spinocerebellar ataxia due to vitamin E deficiency?
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Which statement about low vision aids is accurate?
Which statement about low vision aids is accurate?
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In what manner should visual aids be introduced to young children?
In what manner should visual aids be introduced to young children?
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What is a common outcome for children with visual impairments if no family history is present?
What is a common outcome for children with visual impairments if no family history is present?
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What is a critical decision for parents of children with visual impairments regarding education?
What is a critical decision for parents of children with visual impairments regarding education?
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Which statement about children with retinitis pigmentosa is correct?
Which statement about children with retinitis pigmentosa is correct?
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What is one possible impact of visual loss on a young person's career choices?
What is one possible impact of visual loss on a young person's career choices?
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Which of the following aids is most suitable for children with congenital nystagmus?
Which of the following aids is most suitable for children with congenital nystagmus?
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What is a common psychological adjustment for an older child diagnosed with severe visual impairment?
What is a common psychological adjustment for an older child diagnosed with severe visual impairment?
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What level of magnification do aphakic children require for effective vision aids?
What level of magnification do aphakic children require for effective vision aids?
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Which of the following is a recommendation for using low vision aids in public?
Which of the following is a recommendation for using low vision aids in public?
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What is a practical suggestion for patients with good visual fields but who do not meet driving criteria?
What is a practical suggestion for patients with good visual fields but who do not meet driving criteria?
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What support is generally necessary for children with mild to moderate visual impairment to cope in normal schools?
What support is generally necessary for children with mild to moderate visual impairment to cope in normal schools?
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Study Notes
Visual Loss in Childhood and Adolescence
- Visual loss in childhood and early teens is often congenital or hereditary.
- Diagnosing conditions causing visual impairment in this age group is discussed.
- Common scenarios presented to ophthalmologists are:
- Neonates/babies with visual impairment.
- Babies with visual impairment without obvious abnormalities.
- Children with visual difficulties.
- Recent genetic discoveries in the molecular genetics of these conditions are reviewed.
- Refractive state in a normal newborn is typically 2-3 dioptres of hypermetropia with high astigmatism.
- Globe diameter at birth is 16.5mm, rapidly increasing to an adult diameter of 24.5mm within the first year.
- Full-term newborns have spherical equivalent refractive error normally distributed around +2 dioptres with a standard deviation of 2 dioptres.
- The foveal region of the retina develops fully at 4 months of age.
- Neural pathways mature until 2 years (lateral geniculate ganglion) and 7 months (optic nerve myelination).
- Visual acuity improves as hypermetropia reduces (estimated 6/6 [LogMAR] by 20-30 months).
Practical Advice
- A baby's ability to track a face is more reliable than a white light at 6 weeks.
- Visually directed reaching is not a reliable test until ~6 months old.
- Visual signs of impairment may include abnormal eye movements, poor pupillary reflexes, eye rubbing, lack of facial expression, and absence of optokinetic nystagmus.
Assessment of Visual Function
- Assessment of visual acuity in babies requires patience and attention to detail.
- Attention to fixation as the most reliable test of visual function is critical.
- 83% of neonates track a face better than a white light
- Correct examination techniques and follow-up are essential in cases of doubt.
Ophthalmic Disorders in Childhood
- Retinopathy of prematurity (ROP): Unlikely in full-term babies, but a risk for low birth weight or premature newborns. Screening is critical.
- Congenital glaucoma: Occurs 1 in 10,000 births; characterized by raised intraocular pressure, potential for optic nerve damage.
- Congenital cataracts: Potentially more common in communities with consanguinity. Can be isolated or part of a larger syndrome (e.g., microphthalmia, glaucoma).
- Leber's hereditary optic neuropathy: X-linked, associated with subtle visual defects.
- Usher's syndrome: Rare; associated with retinal degeneration and deafness. Several subtypes exist.
Visual Loss in the Working Age
- Visual impairments in working-age adults might be caused by conditions not exclusively affecting this age group.
- These conditions might present with increased difficulties with work and daily tasks.
- Diabetic retinopathy:
- Early symptoms might be subtle.
- Microaneurysms are commonly found in the temporal area of the macula.
- Progression can vary significantly; some cases don't change for years, while others progress rapidly.
- Visual loss often involves peripheral vision first.
Electrophysiological and Other Testing
- Electrophysiological testing is important in assessing visual function in infants and children.
- Techniques like VEPs, ERGs, and EOGs are essential tools.
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Description
Explore the causes and diagnosis of visual loss in children and adolescents, focusing on congenital and hereditary conditions. This quiz covers common scenarios faced by ophthalmologists, genetic advances, and developmental milestones in vision. Test your knowledge on the factors influencing visual impairment in early life.
