Pediatric Patient with Oculocutaneous Albinism: A Case Report.
Background: Oculocutaneous albinism (OCA) is a rare genetic disorder that occurs due to a mutation in one of the genes that affects the melanin biosynthesis pathway. OCA is autosomal recessive and affects people of all ethnic backgrounds. Oculocutaneous albinism often presents with nystagmus and pal...
| Publicado en: | Optometry & Visual Performance Vol. 3; no. 5; pp. 233 - 238 |
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| Autor principal: | |
| Formato: | case study tables/charts Journal Article |
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Optometric Extension Program
Aug2015
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=109006491&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 109006491 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 23253479 HOOW jtl: Optometry & Visual Performance issn: 23253479 maglogo: N pubinfo: dt: Aug2015 vid: 3 iid: 5 pid: 46881 pub: Optometric Extension Program place: Lutherville Timonium, Maryland artinfo: ui: 109006491 109006491 109006491 109006491 ppf: 233 ppct: 5 formats: tig: atl: Pediatric Patient with Oculocutaneous Albinism: A Case Report. aug: au: Solis, Casandra affil: Akron Children's Hospital, Akron, Ohio sug: subj: Color Vision Defects Eye Manifestations Refractive Errors Visual Acuity Treatment Errors Female Child Child: 6-12 years Female ab: Background: Oculocutaneous albinism (OCA) is a rare genetic disorder that occurs due to a mutation in one of the genes that affects the melanin biosynthesis pathway. OCA is autosomal recessive and affects people of all ethnic backgrounds. Oculocutaneous albinism often presents with nystagmus and pale coloring of the skin and hair. The patient with OCA has normal development, intelligence, fertility, and lifespan. Case Report: A two-month-old female presented with a new-onset intermittent nystagmus. A complete vision exam resulted in a diagnosis of oculocutaneous albinism with nystagmus secondary tofoveal hypoplasia. The findings were discussed with the parents, and a follow-up was scheduled. At the five-month follow-up, the patient was progressing well and had a reduction in the amplitude of her nystagmus. Conclusion: Oculocutaneous albinism is often discovered first with a visit to the eye care professional due to a recent onset of nystagmus. Foveal hypoplasia causes an onset of nystagmus between two and three months. Additional ocular manifestations include reduced visual acuity, strabismus, high refractive error, amblyopia, increased decussation of visual fibers, color vision defects, photophobia, transillumination, and hypopigmentation of the retinal pigmented epithelium. Assistance for the child with OCA consists of correcting the refractive error; amblyopia treatment when necessary; and concurrent physical, occupational, and low vision therapy. Communication and collaboration with other medical specialties is warranted throughout life. pubtype: Academic Journal doctype: case study tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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