Kniest Dysplasiaの1例

A case of Kniest dysplasia

　多彩な眼合併症を有する7歳男児のKniest dysplasiaの1例を報告した．

　全身的には低身長，独得の顔貌，胸椎後轡と腰椎前轡，肘，膝，足の関節の膨隆と強直，口蓋裂，難聴，中耳炎が認められた．眼科所見では視力は右0.3，左0.02で，両眼水晶体が下方へ偏位し，赤道部と後嚢下に水晶体混濁が認められた．また，硝子体変性，豹紋状眼底，網膜格子状変性がみられ，眼軸長は右28.93mm，左28.95mmと著明に長く，ERGは両眼ともsubnormalであった．7歳の時左眼水晶体摘出術を行い，術後視力0.3を得た．

　Kniest dysplasiaはまれな骨系統疾患であるが，視機能を障害しうる多彩な眼合併症を伴うので，できる限り早期から眼科的精査を行い，より良い視機能の獲得と保持に努める必要がある．

A 7-year-old male child manifested clinical signs of Kniest dysplasia including various ocular compli-cations. Systemically, we observed shorter-than -normal body height, peculiar physiognomy, kyphosis, swelling and stiffness of joints of the elbow, knee and foot, cleft palate, hypacusia and otitis media. Ophthalmologically, the crystalline lens was dislocated inferiorly in both eyes. Lens opacity was present towards the inferior equatorand in the posterior subcortical region in both eyes. The ocular axis was abnormally elongated at 29 mm bilaterally. We performed lens extraction in his left eye. The final visual acuity was 0.3 in either eye.

While Kniest dysplasia is an uncommon type of chondrodysplasia, ophthalmological follow up from an early age is imperative because of frequent ocular complications that may interfere with visual acuity.

Rinsho Ganka (Jpn J Clin Ophthalmol) 42(12) : 1387-1391, 1988