眼底白点症を合併した小眼球症の1症例

A case of bilateral nanophthalmos and fundus albipunctatus

　眼底白点症を合併した小眼球症の1症例を報告した。両疾患はともに稀な遺伝性疾患であり，これらの合併は今までに報告されておらず，貴重な1例と思われる。家系内には二代にわたり小眼球症が認められたが，網膜異常がみられたのは本人のみであった。症例は22歳女性で，小児期より夜盲を自覚していた。初診時，暗順応曲線は二相性で100分後に正常閾値に達し，その時点でのERGは正常振幅であった。眼底には両眼対称性に，黄斑部を除く網膜全体に，孤立性の境界鮮明な小白点が多数みられた。8年後，視機能および電気生理学的所見が不変であったにもかかわらず，眼底白点の増加および拡大が，初診時眼底写真との比較により確認された。

A 22-year-old female presented with poor visuai acuity and night blindness since childhood as chief complaints. The corneal diameter was 9.7mm/9.6 mm and the axial length of the eyeglobe was 18.7 mm/18.5mm for right and left eye respectively. She was diagnosed as nanophthalmos. Her mother and her younger sister were also affected by nan-ophthalmos. Funduscopy showed numerous white dots over the whole fundus except the fovea in both eyes. By adaptometry, the final rod threshold was attained at 100 minutes with its value in the normal range, Electroretinogram showed that predark adaptation of 120 minutes was necessary for the a and b wave amplitudes to attain normal ranges. She had been under observation for the past 8 years, The findings have remained stationary except increase in the number and size of the white dots.