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Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life.

Cecilia FahnehjelmEva Dafgård KoppJosephine WincentEvin GüvenMattias NilssonMonica OlssonKristina Teär Fahnehjelm
Published in: Ophthalmic genetics (2022)
Somatic, psychomotor and/or neuroradiological pathologies were more common in bila-teral than unilateral cases, but the difference was not significant. There was decreased risk in unilateral cases with one normal eye. Genetic defects occurred in both unilateral and bilateral cases. Health-related quality of life was reduced.
Keyphrases
  • copy number
  • genome wide
  • young adults
  • gene expression
  • case report
  • optic nerve