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Ophthalmic manifestations in children with tuberous sclerosis complex

Hanna Maria Öhnell1, Ulrika Kjellström1, Erik Eklund2

  • 1Ophthalmology, Department of Clinical Sciences Lund, Skåne University Hospital, Lund University, Lund, Sweden.

Acta Ophthalmologica
|November 22, 2023
PubMed

Insights

Ophthalmic findings in children with tuberous sclerosis complex (TSC) reveal common refractive errors and strabismus. Cerebral visual impairment requires greater awareness and investigation among ophthalmologists.

Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • Tuberous sclerosis complex (TSC) is a genetic disorder with multisystemic manifestations.
  • Ophthalmic complications are frequently observed in children with TSC.

Purpose of the Study:

  • To document ophthalmic findings in pediatric patients with TSC in southern Sweden.
  • To determine the prevalence of refractive errors, strabismus, and cerebral visual impairment in this cohort.

Main Methods:

  • Retrospective cohort study of pediatric patients diagnosed with TSC between 1983 and 2020.
  • Review of medical records for ophthalmic findings, visual acuity, refractive errors, strabismus, electroretinography, and cerebral visual impairment.

Main Results:

  • Refractive errors (62%) and strabismus (16%) were prevalent in the studied children with TSC.
  • Retinal astrocytic hamartomas (34%) and achromatic patches (34%) were also common.
  • Vigabatrin treatment in 10 patients led to reduced electroretinography responses in 30%.

Conclusions:

  • Refractive errors and strabismus are common in pediatric TSC.
  • Cerebral visual impairment remains underdiagnosed, indicating a need for increased ophthalmologist awareness.
  • Further investigation into cerebral visual impairment in TSC patients is warranted.
Abstract

Keywords:
achromatic patchescerebral visual impairmentophthalmic findingsrefractive errorsretinal hamartomastuberous sclerosis complexvisual acuity

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