Abstract
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.
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References
Deutman, AF. The hereditary dystrophies of the poterior pole of the eye. Assen: Van Gorcum & Co. 1971: 48–99.
Deutman, AF. Dominant macular dystrophies: cystoid macular edema and butterfly dystrophy. Doc Ophthalmol Proc Series 1971; 10: 415–420.
Forsius, HJ, Vainio-Mattila, B, Erikson, A. X-linked hereditary retinoschisis. Br J Ophthalmol 1962; 46: 678–681.
Harris, GS, Yeung, JWS. Maculopathy of sex-linked juvenile retinoschisis. Can J Ophthalmol 1976; 10: 1–10.
Hirose, T, Wolf, E, Hara, A. Electrophysiological and psychophysical studies ion congenital retinoschisis of X-linked recessive inheritance. Doc Ophthalmol Proc Series 1977; 13: 173–184.
Izumi K, Matsuhashi M. Goldmann-Favre syndrome in a four-year-old girl. Doc Ophthalmol, 1987: in press.
Matsuhashi M, Oguchi Y, Uemura Y. Clinical ERG and VECP from unsedated children under one year. Jpn J Ophthal (Proc 16th Symp ISCEV Suppl) 1979: 279–285.
Lewis, RA, Gilbert, BL, Martoni, CL, Barnett, JM, Falls, HF. Familial foveal retinoschisis. Arch Ophthalmol 1977; 95: 1190–1196.
Noble, KG, Carr, RE, Siegel, IM. Familial foveal retinoschisis associated with a rod-cone dystrophy. Am J Ophthalmol 1978; 85: 551–557.
Schepens, CL. Retinal Detachment and Allied Diseases, vol. 2. Philadelphia: WB Saunders, 1983: 568–588.
Uchino, M, Shimizu, H. A family with congenital retinoschisis including a female patient. Rinshouganka 1976; 30: 145–151.
Yassur, Y, Nassenkorn, I, Beb-sira, I, Kaffe, S, Goodman, M. Autosomal dominant inheritance of retinoschisis. Am J Ophthalmol 1982; 94: 338–343.
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Shimazaki, J., Matsuhashi, M. Familial retinoschisis in female patients. Doc Ophthalmol 65, 393–400 (1987). https://doi.org/10.1007/BF00149946
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DOI: https://doi.org/10.1007/BF00149946