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Ocular Manifestations of Pediatric Systemic Diseases

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Abstract

Ocular manifestations that occur directly or indirectly as result of a pathologic process that involves other parts of the body, in a pediatric population, will be discussed here. While a myriad number of systemic conditions have ocular manifestations, its importance cannot be undermined because it has implications for both diagnosis and treatment. Often, the eye findings can give a clue to the systemic diagnosis and at other times, not managing the eye manifestations can lead to irreversible blindness although the systemic condition was treated well. So, it is important for all clinicians dealing with pediatric population to be aware of ocular manifestations of the common systemic conditions. The authors discuss the ocular manifestations of the following systemic conditions: Genetic and chromosomal anomalies, phakomatoses, metabolic disorders, infectious diseases, craniofacial anomalies, muscular disorders, inflammatory disorders and miscellaneous.

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References

  1. Cantor LB, Lyons CJ, Cioffi GA. Retina and vitreous, basic and clinical science course. USA: American Academy of Ophthalmology; 2015-2016. p. 251.

    Google Scholar 

  2. Cleary M, Morris A, Taylor D. Inborn errors of metabolism and eye. In: Taylor D, Hoyt CS, editors. Pediatric Ophthalmology and Strabismus, 3rd ed. Philadelphia: Elsevier; 2005. p. 684–713.

    Google Scholar 

  3. Bowling B. Kanski’s Clinical Ophthalmology, 8thed. Online by Wolters Kluver India Pvt Ltd: Elsevier; 2016. p. 680.

  4. Pruett RC. Retinitis pigmentosa: clinical observations and correlations. Trans Am Ophthalmol Soc. 1983;81:693–735.

    CAS  PubMed  PubMed Central  Google Scholar 

  5. Boughman J, Vernon M, Shaver K. Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis. 1983;36:595–603.

    Article  CAS  PubMed  Google Scholar 

  6. Russell-Eggitt IM, Morris AAM. Usher syndrome. In: Taylor D, Hoyt CS, editors. Pediatric Ophthalmology and Strabismus, 3rd ed. Philadelphia: Elsevier; 2005. p. 563.

  7. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet. 1999;36:437–46.

    CAS  PubMed  PubMed Central  Google Scholar 

  8. Russell-Eggitt IM, Morris AAM. Retinal distrophies with systemic association. In: Taylor D, Hoyt CS, editors. Pediatric Ophthalmology and Strabismus, 3rd ed. Philadelphia: Elsevier; 2005. p. 564.

  9. Lambert SR. Retinal distrophies with systemic association. In: Taylor D, Hoyt CS, editors. Pediatric Ophthalmology and Strabismus, 3rd ed. Philadelphia: Elsevier; 2005. p. 441.

  10. Rowley SA, O Gallagher FJ, Osborne JP. Ophthalmic manifestations of tuberous sclerosis – a population based study. Br J Ophthalmol. 2001;85:420–3.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Ragge NK, Falk R, Cohen WE, et al. Images of Lisch nodules across the spectrum. Eye. 1993;7:95–101.

    Article  PubMed  Google Scholar 

  12. Grant WM, Walton DS. Distinctive gonioscopic findings in glaucoma due to neurofibromatosis. Arch Ophthalmol. 1968;79:127–34.

    Article  CAS  PubMed  Google Scholar 

  13. Lyons CJ, Rootman J. Neurofibromatosis. In: Taylor D, Hoyt CS, editors. Pediatric Ophthalmology and Strabismus, 3rd ed. Philadelphia: Elsevier; 2005. p. 308–9.

    Google Scholar 

  14. Maher E, Moore A. Von Hippel-Lindau disease. Br J Ophthalmol. 1992;76:743–5.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Lambert SR. Retinal dystrophies with systemic association. In: Taylor D, Hoyt CS, editors. Pediatric Ophthalmology and Strabismus, 3rd ed. Philadelphia: Elsevier; 2005. p. 444.

  16. Morland AB, Hoffman MB, Neven M, et al. Abnormal visual projection in a human albino studied with functional MRI and VEP. J Neurol Neurosensory Psychiatry. 2002;72:523–6.

    CAS  Google Scholar 

  17. Brezin AP, Thulliez P, Couvreur J, NobnR, Mc Leod R, Mets MB. Ophthalmic outcomes after prenatal and postnatal treatment of congenital toxoplasmosis. Am J Ophthalmol. 2003;35:779–84.

  18. De Sa LCF, Soriano DS. Systemic infections and the eye: AIDS. In: Taylor D, Hoyt CS, editors. Pediatric Ophthalmology and Strabismus, 3rd ed. Philadelphia: Elsevier; 2005. p. 188.

  19. Pelaez CA, Gurbindo MD, Cortis C, Fernadez MM. A molluscum contagiosum involving upper eyelid in a child infected with HIV. Pediatr AIDS HIV Infect. 1996;7:43–6.

    CAS  PubMed  Google Scholar 

  20. Lambert SR. Ocular manifestations of intrauterine infections. In: Taylor D, Hoyt CS, editors. Pediatric Ophthalmology and Strabismus, 3rd ed. Philadelphia: Elsevier; 2005. p. 139.

  21. Anderson KS, Amos CS, Boppana S, Pass R. Ocular abnormalities in congenital cytomegalovirus infection. J Am Optom Assoc. 1996;67:273–8.

    CAS  PubMed  Google Scholar 

  22. Hanieh A, David D. Apert’s syndrome. Child’s Nervous System. 1993;9:289–91.

  23. Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the head and neck. Oxford: Oxford University Press; 2001.

    Google Scholar 

  24. Wang FM, Mellman AL, Sidoti PA, et al. Ocular findings in Treacher Collins syndrome. Am J O. 1990;110:280–6.

    Article  CAS  Google Scholar 

  25. Al-Enezi M, Nasser M. Mitochondrial disorders with significant ophthalmic manifestations. Middle East Afr J Ophthalmol. 2008;15:81–6.

    Article  PubMed  Google Scholar 

  26. Souh H, Sahashi K, Ibi T, et al. Progressive external ophthalmoplegia and myositis. Intern Med. 1993;32:319–22.

    Article  Google Scholar 

  27. Schoser BG, Pongratz D. Extraocular mitochondrial myopathies and their differential diagnosis. Strabismus. 2006;14:107–13.

  28. Burian HM, Burns CA. Ocular changes in myotonic dystrophy. Am J Ophthalmol. 1967;63:22–34.

    Article  CAS  PubMed  Google Scholar 

  29. Choudhary MM, Hajj-Ali RA, Lowder CY. Gender and ocular manifestations of connective tissue diseases and systemic vasculitides. J Ophthalmol. 2014;2014:403042.

  30. Palejwala NV, Yeh S, Angeles-Han ST. Current perspectives on ophthalmic manifestations of childhood rheumatic diseases. Curr Rheumatol Rep. 2013;15:341.

  31. Reiff A. Ocular complications of childhood rheumatic diseases: nonuveitic inflammatory eye diseases. Curr Rheumatol Rep. 2009;11:226–32.

    Article  PubMed  Google Scholar 

  32. Kang EH, Kim JY, Takeuchi F, et al. Associations between the HLA-A polymorphism and the clinical manifestations of Behcet’s disease. Arth Res Ther. 2011;13:R49.

    Article  CAS  Google Scholar 

  33. Edelsten C. Uveitis. In: Taylor D, Hoyt CS, editors. Pediatric Ophthalmology and Strabismus, 3rd ed. Philadelphia: Elsevier; 2005. p. 420.

  34. Lim HW, Oh SY. Ocular manifestations of pediatric systemic disease. Hanyang Med Rev. 2016;36:182–5.

    Article  Google Scholar 

  35. Maumenee IH. The eye in Marfans syndrome. Trans Am Ophthalmol Soc. 1981;79:684–733.

    CAS  PubMed  PubMed Central  Google Scholar 

  36. Cross HE, Jensen AD. Ocular manifestations in the marfans syndrome and homocystinuria. Am J Ophthalmol. 1973;75:405–20.

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Acknowledgements

Dr. Pradeep Venkatesh for his constant help in preparing this manuscript.

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Authors and Affiliations

  1. Department of Ophthalmology, Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham, Kochi, Kerala, India

    Gopal S. Pillai & Natasha Radhakrishnan

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  1. Gopal S. Pillai
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  2. Natasha Radhakrishnan
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NR for getting the images and writing the manuscript. GSP for editing the final review and is the guarantor for this paper.

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Correspondence to Gopal S. Pillai.

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Pillai, G.S., Radhakrishnan, N. Ocular Manifestations of Pediatric Systemic Diseases. Indian J Pediatr 85, 217–227 (2018). https://doi.org/10.1007/s12098-018-2623-2

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  • DOI: https://doi.org/10.1007/s12098-018-2623-2

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