Familial foveal retinoschisis associated with a rod-cone dystrophy.
A brother and sister born of a consanguinous marriage had bilateral foveal retinoschisis and a generalized rod-cone dysfunction. This was associated with nyctalopia, hyperopia, minimal vitreous opacities in the sister, a paramacular tapetal sheen reflex, normal retinal vessels, an abnormal electroretinogram, and a normal electro-oculogram in the less affected brother. Foveal retinoschisis is not pathognomonic for x-chromosome-linked juvenile retinoschisis. It may be seen as a manifestation of a macular dystrophy or associated with a generalized tapetoretinal dystrophy.
D000328:Adult; D002648:Child; D003117:Color Vision Defects / Q000150:complications; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005584:Fovea Centralis / Q000473:pathology*; D006801:Humans; D008266:Macula Lutea / Q000473:pathology*; D008297:Male; D009755:Night Blindness / Q000150:complications; D010786:Photoreceptor Cells; D012021:Reflex, Abnormal; D012164:Retinal Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D014822:Vitreous Body / Q000473:pathology