Fluorescein angiography in potential carriers for choroideremia An additional aid for final diagnosis, when funduscopy shows equivocal symptoms

As an extension of a large pedigree with choroideremia, described by Kurstjens in 1965. a family will be presented. A daughter of an affected male presented with her two carrier daughters and her three unaffected sons. In one daughter, funduscopy did not reveal characteristics specific for the diagn...

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Veröffentlicht in:	Ophthalmic genetics 1985-01, Vol.5 (1-2), p.25-30
Hauptverfasser:	Van Dorp, D. B., Van Balen, A. Th. M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Child Choroid - blood supply Choroideremia Diagnosis, Differential Female Fluorescein Angiography Fundus Oculi Genetic Carrier Screening Humans Male nightblindness Ophthalmoscopy Pedigree potential carriers Uveal Diseases - diagnosis Uveal Diseases - genetics Vision Tests Visual Acuity visual field loss
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Zusammenfassung:	As an extension of a large pedigree with choroideremia, described by Kurstjens in 1965. a family will be presented. A daughter of an affected male presented with her two carrier daughters and her three unaffected sons. In one daughter, funduscopy did not reveal characteristics specific for the diagnosis of the carrier state for choroideremia. Special attention will be paid to the diagnostic value of fluorescein angiography for final diagnosis and genetic counseling.
ISSN:	1381-6810 0167-6784 1744-5094
DOI:	10.3109/13816818509007852