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BESTROPHINOPATHIE AUTOSOMIQUE RECESSIVE [1 record]
Record 1 - internal organization data 2025-08-27
Record 1, English
Record 1, Subject field(s)
- Visual Disorders
Record 1, Main entry term, English
- autosomal recessive bestrophinopathy
1, record 1, English, autosomal%20recessive%20bestrophinopathy
correct, noun
Record 1, Abbreviations, English
- ARB 2, record 1, English, ARB
correct, noun
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
Autosomal recessive bestrophinopathy. ... Biaellic mutations in BEST1 are associated with a distinct retinopathy characterized by central visual loss, an absent EOG [electrooculogram] light-rise, and a reduced EOG. Yellowish blunt retinal deposits may be confused with an inflammatory uveitis-like condition, but FAF [fundus autofluorescence] reveals them to be hyperfluorescent. 3, record 1, English, - autosomal%20recessive%20bestrophinopathy
Record number: 1, Textual support number: 2 CONT
Autosomal recessive bestrophinopathy (ARB). Typical age of onset in ARB is in the first decade but can be as late as the fifth decade. 4, record 1, English, - autosomal%20recessive%20bestrophinopathy
Record 1, French
Record 1, Domaine(s)
- Troubles de la vision
Record 1, Main entry term, French
- bestrophinopathie autosomique récessive
1, record 1, French, bestrophinopathie%20autosomique%20r%C3%A9cessive
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
Bestrophinopathie autosomique récessive. [...] une [...] entité associée à des mutations autosomiques récessives sur le gène BEST1 a été décrite sous le nom de bestrophinopathie autosomique récessive [...] L'âge de début est variable mais typiquement dans l'enfance. [...] L'examen du fond d'œil met en évidence de grossières taches jaunâtres au pôle postérieur avec des remaniements maculaires kystiques. Les dépôts jaunâtres sont mieux lisibles par imagerie en autofluorescence, laquelle souligne aussi l'aspect stellaire des remaniements maculaires kystiques. 1, record 1, French, - bestrophinopathie%20autosomique%20r%C3%A9cessive
Record 1, Spanish
Record 1, Textual support, Spanish
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