A Korean Family with an Early-Onset Autosomal Dominant Macular Dystrophy Resembling North Carolina Macular Dystrophy
Korean Journal of Ophthalmology
;
: 220-224, 2006.
Article
Dans Anglais
| WPRIM
| ID: wpr-190550
ABSTRACT
PURPOSE:
To characterize and report the phenotype of a Korean family with an early-onset autosomal dominant macular dystrophy resembling North Carolina macular dystrophy (NCMD).METHODS:
Five members of a Korean family were examined clinically and underwent fundus photography, fluorescein angiography, indocyanine green angiography, optical coherence tomography, full field electroretinogram (ERG), multifocal ERG, electro-oculography (EOG), a color vision test, and a visual field test.RESULTS:
Visual acuity ranged from 20/200 to 20/20. Fundus findings demonstrated varying degrees of involvement ranging from drusen only to chorioretinal involvement. Central scotoma corresponded to retinal lesions in two patients. Full field ERG was normal but multifocal ERG showed decreased amplitude and delayed implicit time in the macular area. EOG was normal except in one patient. Color vision tests were also normal.CONCLUSIONS:
The phenotype of this Korean family is consistent with NCMD. Linkage analysis is required to confirm the diagnosis.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Phénotype
/
Angiographie fluorescéinique
/
Prévalence
/
Âge de début
/
Tomographie par cohérence optique
/
Diagnostic différentiel
/
Électrorétinographie
/
Fond de l'oeil
/
Corée
Type d'étude:
Etude diagnostique
/
Étude de prévalence
Limites du sujet:
Adolescent
/
Adulte
/
Enfant
/
Femelle
/
Humains
/
Mâle
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Korean Journal of Ophthalmology
Année:
2006
Type:
Article
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