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Retinal Lesions Presenting in Childhood

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Book cover Albert and Jakobiec's Principles and Practice of Ophthalmology

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Abstract

This chapter describes retinal diseases presenting in childhood. Emphasis is placed on key characteristics of each entity that are useful for the pediatric ophthalmologist. Categories include tumors, retinal vascular diseases, macular lesions, and congenital abnormalities. Two of the more common causes of infectious chorioretinopathies in children, toxoplasmosis and toxocariasis, are also reviewed. Retinoblastoma and retinopathy of prematurity are more fully discussed in Chaps. 317, “Staging and Grouping of Retinoblastoma” and 266, “Retinopathy of Prematurity.”

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References

  1. Foster BS, Mukai S. Intraocular retinoblastoma presenting as ocular and orbital inflammation. Int Ophthalmol Clin. 1996;36:153–60.

    Article  CAS  PubMed  Google Scholar 

  2. Materin MA, Shields CL, Shields JA, Eagle RC. Diffuse infiltrating retinoblastoma simulating uveitis in a 7-year-old boy. Arch Ophthalmol. 2000;118:442–3.

    Article  CAS  PubMed  Google Scholar 

  3. Morgan G. Diffuse infiltrating retinoblastoma. Br J Ophthalmol. 1971;55:600–6.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Kiribuchi K, Uchida Y, Fukuyama Y, Maruyama H. High incidence of fundus hamartomas and clinical significance of a fundus score in tuberous sclerosis. Brain Dev. 1986;8:509–17.

    Article  CAS  PubMed  Google Scholar 

  5. Robertson DM. Ophthalmic manifestations of tuberous sclerosis. Ann N Y Acad Sci. 1991;615:17–25.

    Article  CAS  PubMed  Google Scholar 

  6. Gass JD. New observations concerning choroidal osteomas. Int Ophthalmol. 1979;1:71–84.

    Article  CAS  PubMed  Google Scholar 

  7. Shields CL, Sun H, Demirci H, Shields JA. Factors predictive of tumor growth, tumor decalcification, choroidal neovascularization, and visual outcome in 74 eyes with choroidal osteoma. Arch Ophthalmol. 2005;123:1658–66.

    Article  PubMed  Google Scholar 

  8. Grossniklaus HE, Thomas JW, Vigneswaran N, Jarrett WH. Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. Ophthalmology. 1992;99:140–5.

    Article  CAS  PubMed  Google Scholar 

  9. Gauthier D, D’Amico DJ, von Mukai S. Hippel-Lindau disease. Int Ophthalmol Clin. 2001;41:173–87.

    Article  CAS  PubMed  Google Scholar 

  10. Webster AR, Maher ER, Moore AT. Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. Arch Ophthalmol. 1999;117:371–8.

    Article  CAS  PubMed  Google Scholar 

  11. Vianna RN, Pacheco DF, Vasconcelos MM, de Laey JJ. Combined hamartoma of the retina and retinal pigment epithelium associated with neurofibromatosis type-1. Int Ophthalmol. 2001;24:63–6.

    Article  CAS  PubMed  Google Scholar 

  12. Blumenthal EZ, Papamichael G, Merin S. Combined hamartoma of the retina and retinal pigment epithelium: a bilateral presentation. Retina. 1998;18:557–9.

    Article  CAS  PubMed  Google Scholar 

  13. Theodossiadis PG, Panagiotidis DN, Baltatzis SG, Georgopoulos GT, Moschos MN. Combined hamartoma of the sensory retina and retinal pigment epithelium involving the optic disk associated with choroidal neovascularization. Retina. 2001;21:267–70.

    Article  CAS  PubMed  Google Scholar 

  14. Mason JO, Kleiner R. Combined hamartoma of the retina and retinal pigment epithelium associated with epiretinal membrane and macular hole. Retina. 1997;17:160–2.

    PubMed  Google Scholar 

  15. Kahn D, Goldberg MF, Jednock N. Combined retinal-retina pigment epithelial hamartoma presenting as a vitreous hemorrhage. Retina. 1984;4:40–3.

    Article  CAS  PubMed  Google Scholar 

  16. Otani T, Yamaguchi Y, Kishi S. Serous macular detachment secondary to distant retinal vascular disorders. Retina. 2004;24:758–62.

    Article  PubMed  Google Scholar 

  17. Lee ST, Friedman SM, Rubin ML. Cystoid macular edema secondary to juxtafoveolar telangiectasis in Coats’ disease. Ophthalmic Surg. 1991;22:218–21.

    CAS  PubMed  Google Scholar 

  18. Gupta MP, Talcott KE, Kim DY, Agarwal S, Mukai S. Retinal findings and a novel TINF2 mutation in Revesz syndrome: clinical and molecular correlations with pediatric retinal vasculopathies. Ophthalmic Genet. 2017;38:1–10.

    Article  Google Scholar 

  19. Walton DS, Mukai S, Grabowski EF, Munzenrider JE, Dryja TP. Case records of the Massachusetts General Hospital. Case 5-2006. An 11-year-old girl with loss of vision in the right eye. N Engl J Med. 2006;354:741–8.

    Article  CAS  PubMed  Google Scholar 

  20. Koulisis N, et al. Correlating changes in the macular microvasculature and capillary network to peripheral vascular pathologic features in familial exudative vitreoretinopathy. Ophthalmol Retina. 2019;3:597–606.

    Article  PubMed  Google Scholar 

  21. Hsu ST, et al. Macular microvascular findings in familial exudative vitreoretinopathy on optical coherence tomography angiography. Ophthalmic Surg Lasers Imaging Retina. 2019;50:322–9.

    Article  PubMed  PubMed Central  Google Scholar 

  22. van Nouhuys CE. Juvenile retinal detachment as a complication of familial exudative vitreoretinopathy. Fortschr Ophthalmol Z Dtsch Ophthalmol Ges. 1989;86:221–3.

    Google Scholar 

  23. Nishimura M, et al. Falciform retinal fold as sign of familial exudative vitreoretinopathy. Jpn J Ophthalmol. 1983;27:40–53.

    CAS  PubMed  Google Scholar 

  24. Kashani AH, et al. High prevalence of peripheral retinal vascular anomalies in family members of patients with familial exudative vitreoretinopathy. Ophthalmology. 2014;121:262–8.

    Article  PubMed  Google Scholar 

  25. Kondo H. Complex genetics of familial exudative vitreoretinopathy and related pediatric retinal detachments. Taiwan J Ophthalmol. 2015;5:56–62.

    Article  PubMed  PubMed Central  Google Scholar 

  26. Nikopoulos K, et al. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet. 2010;86:240–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  27. Rao F-Q, et al. Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 genes account for 38.7% of Chinese patients with familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci. 2017;58:2623–9.

    Article  CAS  PubMed  Google Scholar 

  28. Salvo J, et al. Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. Invest Ophthalmol Vis Sci. 2015;56:1937–46.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. Goldberg MF. Classification and pathogenesis of proliferative sickle retinopathy. Am J Ophthalmol. 1971;71:649–65.

    Article  CAS  PubMed  Google Scholar 

  30. Goldberg MF. The blinding mechanisms of incontinentia pigmenti. Ophthalmic Genet. 1994;15:69–76.

    Article  CAS  PubMed  Google Scholar 

  31. George ND, Yates JR, Moore AT. Clinical features in affected males with X-linked retinoschisis. Arch Ophthalmol. 1996;114:274–80.

    Article  CAS  PubMed  Google Scholar 

  32. Eksandh LC, et al. Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. Arch Ophthalmol. 2000;118:1098–104.

    Article  CAS  PubMed  Google Scholar 

  33. Apushkin MA, Fishman GA, Janowicz MJ. Correlation of optical coherence tomography findings with visual acuity and macular lesions in patients with X-linked retinoschisis. Ophthalmology. 2005;112:495–501.

    Article  PubMed  Google Scholar 

  34. Azzolini C, Pierro L, Codenotti M, Brancato R. OCT images and surgery of juvenile macular retinoschisis. Eur J Ophthalmol. 1997;7:196–200.

    Article  CAS  PubMed  Google Scholar 

  35. Fishman GA, et al. Visual acuity in patients with best vitelliform macular dystrophy. Ophthalmology. 1993;100:1665–70.

    Article  CAS  PubMed  Google Scholar 

  36. Shields JA. Ocular toxocariasis. A review. Surv Ophthalmol. 1984;28:361–81.

    Article  CAS  PubMed  Google Scholar 

  37. Gilbert RE, Stanford MR. Is ocular toxoplasmosis caused by prenatal or postnatal infection? Br J Ophthalmol. 2000;84:224–6.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  38. Holland GN. Reconsidering the pathogenesis of ocular toxoplasmosis. Am J Ophthalmol. 1999;128:502–5.

    Article  CAS  PubMed  Google Scholar 

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Author information

Authors and Affiliations

  1. Ophthalmology, Shiley Eye Institute, UCSD, La Jolla, CA, USA

    Eric Nudleman

  2. Ophthalmology, University of Occupational and Environmental Health, Japan, Fukuoka, Japan

    Tatsuo Nagata

  3. Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA

    Shizuo Mukai

Authors
  1. Eric Nudleman
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  2. Tatsuo Nagata
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  3. Shizuo Mukai
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Corresponding author

Correspondence to Shizuo Mukai .

Editor information

Editors and Affiliations

  1. Casey Eye Institute, Oregon Health & Science, Portland, OR, USA

    Daniel M. Albert

  2. Department of Ophthalmology, Massachusetts Eye and Ear, Massachusetts General Hospital, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA

    Joan W. Miller

  3. Department of Ophthalmology, University of Illinois College of Medicine, University of Illinois at Chicago, Chicago, IL, USA

    Dimitri T. Azar

  4. Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA

    Lucy H. Young

Section Editor information

  1. Director, National Eye Institute, National Institutes of Health, Bethesda, MD, USA

    Michael Chiang MD

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Nudleman, E., Nagata, T., Mukai, S. (2022). Retinal Lesions Presenting in Childhood. In: Albert, D.M., Miller, J.W., Azar, D.T., Young, L.H. (eds) Albert and Jakobiec's Principles and Practice of Ophthalmology. Springer, Cham. https://doi.org/10.1007/978-3-030-42634-7_280

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  • DOI: https://doi.org/10.1007/978-3-030-42634-7_280

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-42633-0

  • Online ISBN: 978-3-030-42634-7

  • eBook Packages: MedicineReference Module Medicine

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