[Atypical retinopathia pigmentosa with central retinoschisis (Goldmann-Favre) (author's transl)].
A family is presented whose two daughters suffer from Goldmann-Favre disease. They have a retinoschisis and bone corpuscle like pigmentations. Both the girls have pathological ERG's (reduced b-waves, potentials up to 40 muV, no a-waves). The EOG of the younger is normal (Arden ratio 200%), but the EOG of the elder sister is pathological (Arden ratio right 120%, left 150%).
D000293:Adolescent; D000328:Adult; D003623:Dark Adaptation; D005071:Evoked Potentials; D005260:Female; D006801:Humans; D008266:Macula Lutea / Q000503:physiopathology; D008297:Male; D009755:Night Blindness / Q000235:genetics* / Q000503:physiopathology; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000503:physiopathology; D013577:Syndrome; D014794:Visual Fields
Atypische Retinopathia pigmentosa mit zentraler Retinoschisis (Goldmann-Favre)