Goldmann-Favre syndrome in a four-year-old-girl.
We report a suspected early stage of Goldmann-Favre syndrome in a four-year-old girl complaining of poor visual acuity in both eyes. Ophthalmological examinations were performed including fundus examination, fluorescein angiography, and electrophysiological studies. However, dark adaptation and visual field testing were not performed because of her age. Ophthalmoscopic examinations revealed peripheral retinoschisis in the superior temporal retina, diffusely abnormal retinal pigment epithelium, and lack of macular and foveal reflexes in both eyes. Foveal retinoschisis was not observed and the vitreous did not show severe degeneration. Fluorescein angiography showed many leaking points posterior to the retinoschisis. Scotopic electroretinogram (ERG) was almost non-recordable. Photopic electroretinogram showed a marked reduction of the b-wave with a negative shape and delayed peak time. Flash visual evoked potentials were within normal range. It is very difficult to distinguish this case from X-linked juvenile retinoschisis by ophthalmological findings. However, Goldmann-Favre syndrome is most suspected from the fact that the patient is female and her parents and brothers are normal.
Department of Ophthalmology, Keio University, Tokyo, Japan.
K
K
Izumi
M
M
Matsuhashi
D002675:Child, Preschool; D004596:Electroretinography; D005128:Eye Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D013577:Syndrome; D014822:Vitreous Body