Paeds · ophthalmology

Ophthalmic manifestations of systemic disease

Also known as Eye signs of systemic disease · Uveitis in juvenile idiopathic arthritis · Diabetic retinopathy in children · Phakomatoses and the eye · Sickle cell retinopathy · Neurocutaneous ophthalmic signs · Ectopia lentis · Kayser-Fleischer ring · Xerophthalmia · Cherry-red spot

Fellowship guide to the ophthalmic manifestations of systemic disease in children. Covers the eye as the window to systemic disease, the sight-threatening uveitis of juvenile idiopathic arthritis and the ACR screening schedule, the microvascular retinopathy of type one diabetes, the proliferative sickle cell retinopathy, the neurocutaneous phakomatoses 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 congenital infections with the toxoplasmosis chorioretinitis, the vitamin A deficiency xerophthalmia, the Marfan ectopia lentis and the Wilson Kayser-Fleischer ring, the cherry-red spot of the storage disorders, and the red-flag recognition and the multidisciplinary referral.

high10 referencesUpdated 16 July 202629 min readVerification in progress

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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 blindnessA 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 hypothalamusAn 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 lifeA 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 referralThe 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

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fetalneonateinfanttoddlerpreschoolschool-ageadolescent

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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 screeningPerforms 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 assessmentIdentifies the high-risk child for the juvenile arthritis uveitis, the antinuclear-antibody-positive oligoarticular disease in the young child, and arranges the screeningApplies 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 fallsCoordinates 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 subspecialtyManages the chronic uveitis with the topical corticosteroid, the methotrexate and the adalimumab, and balances the vision salvage against the treatment toxicityA 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 blindnessA child with neurofibromatosis type one who develops the reduced vision, the proptosis or the precocious puberty has the optic pathway glioma until proven otherwiseThe 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 referralExamines 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 featuresCounsels the family of the child with the neurocutaneous or the metabolic eye disease about the natural history, the surveillance and the genetic counsellingSynthesises the multidisciplinary plan that balances the control of the systemic disease, the preservation of the vision and the prevention of the amblyopiaLevel 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 examinationLevel 2: Application of the juvenile arthritis uveitis screening schedule, the diabetic retinopathy screening and the neurocutaneous surveillance to the at-risk childLevel 3: Coordination of the multidisciplinary management of the chronic uveitis, the retinopathy and the phakomatoses across the paediatrics, the ophthalmology and the subspecialtyThe 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 monthsThe 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 haemangiomaThe 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 mucopolysaccharidosesCorrect performance of the slit-lamp screening for the juvenile arthritis uveitis, and the interpretation of the cells and the flare in the anterior chamberCommunication of the diagnosis of the neurocutaneous or the metabolic eye disease to the family, balancing the surveillance against the anxietyStructured 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 diseaseThe ophthalmic manifestations of the systemic diseases of childhood, from the rheumatology and the endocrinology through the haematology, the neurocutaneous, the infectious and the metabolicThe screening schedules for the juvenile arthritis uveitis, the diabetic retinopathy and the sickle cell retinopathy, and the red flags that demand the urgent referralThe multidisciplinary management of the chronic uveitis, the retinopathy and the phakomatoses, with the preservation of the vision and the prevention of the amblyopiaRecognition of the eye as a window to systemic disease, and the identification of the high-risk child for the sight-threatening uveitisApplication of the juvenile arthritis uveitis screening schedule and the diabetic retinopathy screening, and the urgent referral of the red-flag findingsCoordination of the multidisciplinary pathway with the ophthalmology, the rheumatology, the endocrinology, the neurology and the geneticsCanadian approach to the screening and the surveillance of the ophthalmic manifestations of systemic disease, with the juvenile arthritis uveitis and the diabetic retinopathyThe neurocutaneous and the metabolic eye signs, and the multidisciplinary management of the phakomatoses and the storage disordersThe red-flag recognition and the urgent referral for the vision loss, the proptosis and the abnormal red reflex

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Red flags

Life stages

fetalneonateinfanttoddlerpreschoolschool-ageadolescent

Care settings

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Overview & Definition

A four-year-old girl with the oligoarticular juvenile idiopathic arthritis runs into the clinic with a swollen knee and a smile, and she has no eye pain and no redness and no complaint about her vision. Behind that cheerful exterior, however, the low-grade inflammation of the anterior uvea may be scarring her eye in silence, depositing the band keratopathy on the cornea and the posterior synechiae across the pupil, and narrowing the angle toward the glaucoma. This is the central lesson of the ophthalmic manifestations of systemic disease: the eye declares the danger of a distant disease long before the child complains, and the paediatrician who screens the right child at the right interval saves the sight that the symptoms would have given away too late. The slit-lamp examination of the child with the juvenile arthritis is the prototype, and it sets the pattern for the whole topic. [1]

The eye shares its blood supply, its immune system, its connective tissue and its embryology with every other organ, and so the systemic diseases of childhood appear in the eye through several doors. The immune-mediated inflammation of the uvea follows the juvenile arthritis and the inflammatory bowel disease. The microvascular injury of the retinal capillary follows the diabetes and the sickle cell disease. The developmental tumour and the hamartoma follow the neurocutaneous phakomatoses. The congenital infection seeds the retina, the metabolic disorder deposits the substrate, the nutritional deficiency depletes the tissue, and the connective tissue disorder displaces the lens. The candidate who holds these mechanisms together is the candidate who can predict which systemic disease will appear in which part of the eye. [4][9]

The clinical weight of the topic rests on two pillars, and the examination rewards the candidate who holds both. The first is the screening of the asymptomatic child at risk, because the sight-threatening uveitis of the juvenile arthritis and the early retinopathy of the diabetes are silent, and the screening schedule is the only safeguard against the irreversible blindness. The second is the recognition of the red-flag sign in the child who is already known to carry a systemic disease, because the optic pathway glioma of the neurofibromatosis, the glaucoma of the Sturge-Weber and the xerophthalmia of the vitamin A deficiency declare themselves through the eye, and the same-day ophthalmology referral is the non-negotiable step. The fellow who can name the screening interval and the red flag carries the whole topic. [1][6]

One-sentence answer for the exam

The eye is a window to the systemic disease of the child. The sight-threatening inflammation of the juvenile idiopathic arthritis uveitis is silent, so the high-risk child with the antinuclear-antibody-positive oligoarticular disease receives the slit-lamp screening every three months. The child with a known systemic disease who develops the reduced vision, proptosis, abnormal red reflex or the swollen optic disc is referred the same day to the ophthalmology service. The systemic diseases reach the eye through the immune-mediated uveitis, microvascular retinopathy, neurocutaneous hamartoma, congenital infection, metabolic deposition, connective tissue displacement and the nutritional depletion. The management rests on the screening of the asymptomatic child, the recognition of the red flag and the multidisciplinary referral.

[1][4][6][9]

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References10Show ledger

[1]Angeles-Han ST, Ringold S, Beukelman T, et al 2019 American College of Rheumatology/Arthritis Foundation Guideline for the Screening, Monitoring, and Treatment of Juvenile Idiopathic Arthritis-Associated Uveitis. Arthritis Care Res, 2019.PMID 31021540
[2]Herskin CW, Olsen BS, Madsen M, et al Screening for retinopathy in children with type 1 diabetes in Denmark. Pediatr Diabetes, 2020.PMID 31618523
[3]Singh V, West KP Jr Vitamin A deficiency and xerophthalmia among school-aged children in Southeastern Asia. Eur J Clin Nutr, 2004.PMID 15054414
[4]Gutmann DH, Ferner RE, Listernick RH, et al Neurofibromatosis type 1. Nat Rev Dis Primers, 2017.PMID 28230061
[5]Northrup H, Aronow ME, Bebin EM, et al Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatr Neurol, 2021.PMID 34399110
[6]Higueros E, Roe E, Granell E, et al Sturge-Weber Syndrome: A Review. Actas Dermo-Sifiliograficas, 2017.PMID 28126187
[7]Yawn BP, Buchanan GR, Afenyi-Annan AN, et al Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members. JAMA, 2014.PMID 25203083
[8]Bollani L, Auriti C, Achille C, et al Congenital Toxoplasmosis: The State of the Art. Front Pediatr, 2022.PMID 35874584
[9]Milewicz DM, Braverman AC, De Backer J, et al Marfan syndrome. Nat Rev Dis Primers, 2021.PMID 34475413
[10]Rohani P, Abdollah Gorji F, Eshaghi M, et al Ocular Complications of Pediatric Inflammatory Bowel Disease: A Case Series From a Pediatric Tertiary Medical Center. Clin Pediatr, 2022.PMID 35152727

Ophthalmic manifestations of systemic disease

high10 referencesUpdated 16 July 202629 min readVerification in progress

Practise this topic

Overview & Definition

Paediatrics Fellowship Pro

You have read the opening of this topic. The complete unit — every section and its primary-source references — is part of the Paediatrics Fellowship fellowship atlas.

References10Show ledger

[1]Angeles-Han ST, Ringold S, Beukelman T, et al 2019 American College of Rheumatology/Arthritis Foundation Guideline for the Screening, Monitoring, and Treatment of Juvenile Idiopathic Arthritis-Associated Uveitis. Arthritis Care Res, 2019.PMID 31021540
[2]Herskin CW, Olsen BS, Madsen M, et al Screening for retinopathy in children with type 1 diabetes in Denmark. Pediatr Diabetes, 2020.PMID 31618523
[3]Singh V, West KP Jr Vitamin A deficiency and xerophthalmia among school-aged children in Southeastern Asia. Eur J Clin Nutr, 2004.PMID 15054414
[4]Gutmann DH, Ferner RE, Listernick RH, et al Neurofibromatosis type 1. Nat Rev Dis Primers, 2017.PMID 28230061
[5]Northrup H, Aronow ME, Bebin EM, et al Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatr Neurol, 2021.PMID 34399110
[6]Higueros E, Roe E, Granell E, et al Sturge-Weber Syndrome: A Review. Actas Dermo-Sifiliograficas, 2017.PMID 28126187
[7]Yawn BP, Buchanan GR, Afenyi-Annan AN, et al Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members. JAMA, 2014.PMID 25203083
[8]Bollani L, Auriti C, Achille C, et al Congenital Toxoplasmosis: The State of the Art. Front Pediatr, 2022.PMID 35874584
[9]Milewicz DM, Braverman AC, De Backer J, et al Marfan syndrome. Nat Rev Dis Primers, 2021.PMID 34475413
[10]Rohani P, Abdollah Gorji F, Eshaghi M, et al Ocular Complications of Pediatric Inflammatory Bowel Disease: A Case Series From a Pediatric Tertiary Medical Center. Clin Pediatr, 2022.PMID 35152727