Familial retinoschisis in female patients.
We report two female patients, a mother and daughter, with bilateral foveal changes that resembled those of X-linked recessive juvenile retinoschisis. The 23-year-old daughter had flat retinoschisis at the temporal periphery with multiple small inner-layer breaks in both eyes. There was foveal retinoschisis with fine radial folds. The optic disc was dragged to the nasal side. The 49-year-old mother also had foveal retinoschisis in each eye but there was no peripheral retinoschisis. In the left eye several retinal breaks with minimal retinal detachment were found. Electrophysiological findings in both cases were similar. Single-flash electroretinogram (ERG) showed normal a-wave and decreased b-wave, presenting a negative shape. Averaged scotopic and photopic ERGs showed slightly reduced b-waves, but they were within normal ranges. Visually evoked potentials were subnormal. Ophthalmoscopic and electrophysiologic findings were compatible with X-linked recessive juvenile retinoschisis, but an autosomal dominant inheritance was most likely. Our cases do not follow previously reported characteristics and may represent a new clinical entity.
Shimazaki
J
J
Department of Ophthalmology, School of Medicine, Keio University, Tokyo, Japan.
Matsuhashi
M
M
D000328:Adult; D003560:Cysts / Q000473:pathology / Q000503:physiopathology; D004585:Electrooculography; D004596:Electroretinography; D005074:Evoked Potentials, Visual; D005260:Female; D005584:Fovea Centralis / Q000473:pathology; D005654:Fundus Oculi; D006801:Humans; D008875:Middle Aged; D009887:Ophthalmoscopy; D012167:Retinal Perforations / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D014792:Visual Acuity; D058609:Visual Field Tests