Ophthalmic manifestations of systemic disease

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Target exams

Red flags

• A child with juvenile idiopathic arthritis may have sight-threatening chronic anterior uveitis with no eye pain and no redness, because the inflammation is low-grade and silent, and the ACR screening schedule of the slit-lamp examination every three months for the high-risk child is the only safeguard against the irreversible blindness
• A child with neurofibromatosis type one who develops the reduced vision, the proptosis or the precocious puberty has the optic pathway glioma until proven otherwise, because the optic nerve glioma is the commonest central nervous system tumour of the disease and it may compress the chiasm and the hypothalamus
• An infant with the facial port-wine stain in the ophthalmic division of the trigeminal nerve has the Sturge-Weber syndrome and carries the risk of the ipsilateral glaucoma and the choroidal haemangioma, and the intraocular pressure must be measured in the first weeks of life
• A sudden loss of the vision, a new proptosis, an abnormal red reflex, a swollen optic disc or a painful red eye in any child with a systemic disease is the emergency that demands the same-day ophthalmology referral
• The night blindness is the earliest sign of the vitamin A deficiency, and the child with the malabsorption, the measles or the severe malnutrition who develops the xerophthalmia and the Bitot spots is at the risk of the corneal melting and the blindness within the days

Life stages

Care settings

Clinical exam formats

Board mappings

• Names the eye as a window to systemic disease in the child, and recognises that the chronic anterior uveitis of juvenile idiopathic arthritis is silent and sight-threatening and demands the slit-lamp screening
• Performs the visual acuity, the red reflex and the basic fundus examination on the child with a systemic disease, and refers the abnormal finding for the ophthalmology assessment
• Identifies the high-risk child for the juvenile arthritis uveitis, the antinuclear-antibody-positive oligoarticular disease in the young child, and arranges the screening
• Applies the ACR screening schedule for the juvenile idiopathic arthritis uveitis, with the slit-lamp examination every three months for the high-risk child, and the reduced frequency as the risk falls
• Coordinates the multidisciplinary pathway for the neurocutaneous phakomatoses, the diabetic retinopathy, the sickle cell retinopathy and the metabolic eye disease, between the paediatrics, the ophthalmology and the relevant subspecialty
• Manages the chronic uveitis with the topical corticosteroid, the methotrexate and the adalimumab, and balances the vision salvage against the treatment toxicity
• A child with juvenile idiopathic arthritis may have sight-threatening uveitis with no eye symptoms, and the ACR screening schedule of the slit-lamp every three months for the high-risk child is the safeguard against the irreversible blindness
• A child with neurofibromatosis type one who develops the reduced vision, the proptosis or the precocious puberty has the optic pathway glioma until proven otherwise
• The sudden loss of vision, the new proptosis, the abnormal red reflex or the swollen optic disc in any child with a systemic disease is the emergency that demands the same-day ophthalmology referral
• Examines the child with a systemic disease systematically, performing the visual acuity, the red reflex, the slit-lamp and the dilated fundus, and mapping the systemic and the cutaneous features
• Counsels the family of the child with the neurocutaneous or the metabolic eye disease about the natural history, the surveillance and the genetic counselling
• Synthesises the multidisciplinary plan that balances the control of the systemic disease, the preservation of the vision and the prevention of the amblyopia
• Level 1: Recognition of the eye as a window to systemic disease, and the performance of the visual acuity, the red reflex and the basic fundus examination
• Level 2: Application of the juvenile arthritis uveitis screening schedule, the diabetic retinopathy screening and the neurocutaneous surveillance to the at-risk child
• Level 3: Coordination of the multidisciplinary management of the chronic uveitis, the retinopathy and the phakomatoses across the paediatrics, the ophthalmology and the subspecialty
• The chronic anterior uveitis of juvenile idiopathic arthritis, the antinuclear-antibody-positive oligoarticular high-risk profile, and the ACR screening schedule of the slit-lamp every three months
• The neurocutaneous phakomatoses and the eye, from the neurofibromatosis optic pathway glioma and the Lisch nodules through the tuberous sclerosis retinal hamartoma and the Sturge-Weber glaucoma and choroidal haemangioma
• The metabolic and the connective tissue eye signs, from the Marfan ectopia lentis and the Wilson Kayser-Fleischer ring to the cherry-red spot of the storage disorders and the corneal clouding of the mucopolysaccharidoses
• Correct performance of the slit-lamp screening for the juvenile arthritis uveitis, and the interpretation of the cells and the flare in the anterior chamber
• Communication of the diagnosis of the neurocutaneous or the metabolic eye disease to the family, balancing the surveillance against the anxiety
• Structured examination that recognises the Lisch nodules, the ectopia lentis, the Kayser-Fleischer ring, the cherry-red spot and the Bitot spots, and links each to the underlying disease
• The ophthalmic manifestations of the systemic diseases of childhood, from the rheumatology and the endocrinology through the haematology, the neurocutaneous, the infectious and the metabolic
• The screening schedules for the juvenile arthritis uveitis, the diabetic retinopathy and the sickle cell retinopathy, and the red flags that demand the urgent referral
• The multidisciplinary management of the chronic uveitis, the retinopathy and the phakomatoses, with the preservation of the vision and the prevention of the amblyopia
• Recognition of the eye as a window to systemic disease, and the identification of the high-risk child for the sight-threatening uveitis
• Application of the juvenile arthritis uveitis screening schedule and the diabetic retinopathy screening, and the urgent referral of the red-flag findings
• Coordination of the multidisciplinary pathway with the ophthalmology, the rheumatology, the endocrinology, the neurology and the genetics
• Canadian approach to the screening and the surveillance of the ophthalmic manifestations of systemic disease, with the juvenile arthritis uveitis and the diabetic retinopathy
• The neurocutaneous and the metabolic eye signs, and the multidisciplinary management of the phakomatoses and the storage disorders
• The red-flag recognition and the urgent referral for the vision loss, the proptosis and the abnormal red reflex