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Descripteurs (mots clés)
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Albinisme oculaire
Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.
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Case series: Fundus autofluorescence abnormalities in a family of ocular albinism carriers / Sarah Gleason in OVS : Optometry & Vision Science, vol. 101, 02 (Fevrier 2024)
[article]
in OVS : Optometry & Vision Science > vol. 101, 02 (Fevrier 2024)
Titre : Case series: Fundus autofluorescence abnormalities in a family of ocular albinism carriers Type de document : article de périodique Auteurs : Sarah Gleason ; Sherry J. Bass Année de publication : 2024 Langues : Français (fre) Descripteurs (mots clés) : [Thésaurus Mesh]Albinisme oculaire
[Thésaurus Mesh]Fond de l'oeil
[Thésaurus Mesh]Imagerie optique
[Thésaurus Mesh]Maladies génétiques congénitales
[Thésaurus HELB]:Paramédical:Cas cliniqueMots-clés : pigmentation rétinienne Résumé : SIGNIFICANCE
Carriers of ocular albinism demonstrate signs of retinal mosaicism with unique features on fundus autofluorescence testing, which differentiate this condition from other x-linked retinal disorders in carrier patients. Distinctive findings include a mud-splattered fundus with peripheral hyperpigmented streaks, which correlate with areas of hyperautofluorescence and hypoautofluorescence.
PURPOSE
This is the first reported case series of a family that demonstrates diagnostic retinal and fundus autofluorescence abnormalities related to retinal mosaicism in three sisters who were unaware they were carriers of ocular albinism type 1. Multimodal imaging, electrodiagnostic testing, and genetic testing can be used to confirm the diagnosis and differentiate this clinical presentation from other sight-threatening hereditary retinal diseases.
CASE REPORTS
Three sisters, aged 21, 17, and 13 years, were referred to determine the cause of abnormal retinal pigmentation. All presented with normal vision, and anterior segment examination was unremarkable without iris transillumination. They denied family history of ocular disease. Fundus examination of all three sisters revealed a mud-splattered pattern of pigmentation in the posterior pole and radial pigmentary streaks. Fundus autofluorescence showed a pattern of hyperautofluorescence and hypoautofluorescence corresponding to this pigmentary pattern. Spectral domain optical coherence tomography, electro-oculogram, and electroretinogram were normal in all three sisters. Genetic testing of their father, who was unaware of any disorder, tested positive for ocular albinism.
CONCLUSIONS
Ocular albinism carriers have abnormal retinal pigmentation in a characteristic pattern. Fundus autofluorescence shows a correlative pattern that can confirm carrier status of ocular albinism in individuals unaware of their status and rule out other retinal degenerations.Permalink : https://bibliotheque.helb-prigogine.be/opac_css/index.php?lvl=notice_display&id= [article]Exemplaires
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