A Case Report of Familial Congenital Aniridia and Oculocutaneous Albinism with an Emphasis on Multifaceted and Multidisciplinary Patient Management.

Background: Congenital aniridia and oculocutaneous albinism impair ocular development and frequently present with overlapping signs and symptoms. Similar manifestations include foveal hypoplasia, optic nerve hypoplasia, iris abnormalities, congenital nystagmus, strabismus, and decreased visual acuit...

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Publicado en:Optometry & Visual Performance Vol. 10; no. 3; pp. 139 - 144
Autores principales: Schwalbe, Rachel, Ross, Nicole
Formato: case study pictorial Journal Article
Publicado: Optometric Extension Program Oct2022
Acceso en línea:Ver este registro en EBSCOhost
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      dt: Oct2022
      vid: 10
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      pub: Optometric Extension Program
      place: Lutherville Timonium, Maryland
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        atl: A Case Report of Familial Congenital Aniridia and Oculocutaneous Albinism with an Emphasis on Multifaceted and Multidisciplinary Patient Management.
      aug:
        au:
          Schwalbe, Rachel
          Ross, Nicole
        affil: New England College of Optometry • Boston, Massachusetts
      sug:
        subj:
          Aniridia Therapy
          Albinism Therapy
          Vision Disorders Therapy
          Eye Care Methods
          Optometry
          Occupational Therapy
          Multidisciplinary Care Team
          Child
          Male
          Quality of Life
          Child: 6-12 years
          Male
      ab: Background: Congenital aniridia and oculocutaneous albinism impair ocular development and frequently present with overlapping signs and symptoms. Similar manifestations include foveal hypoplasia, optic nerve hypoplasia, iris abnormalities, congenital nystagmus, strabismus, and decreased visual acuity, which hinder quality of life in affected individuals. Case Report: We present a case of a six-yearold male with both familial congenital aniridia and oculocutaneous albinism yielding secondary visual impairment. His low vision optometric care included refractive error correction, photophobia control, low vision device evaluation, strabismus and amblyopia treatment, ocular health examination and management, and functional vision assessment. The patient's specialty care team included a low vision optometrist, a pediatric glaucoma specialist, a strabismus specialist, a teacher of the visually impaired, an orientation and mobility specialist, and an occupational therapist. Conclusions: The unique contributions of each member of the care team facilitate the holistic development of pediatric low vision patients. Appropriate management, including a multifaceted and multidisciplinary approach to care, is critical to maximize quality of life and visual potential.
      pubtype: Academic Journal
      doctype:
        case study
        pictorial
        Journal Article
      ougenre: Article
    language: English
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