家族性兩眼黃斑部缺損

Familial Bilateral Macular Coloboma

方怡謨(I-Mo Fang) ； 陳慕師(Muh-Shy Chen)

《中華民國眼科醫學會雜誌》 41卷1期 (2002/03) Pp. 88-93

https://doi.org/10.30048/ACTASOS.200203.0016

摘要

目的：臨床上，家族性兩眼黃斑部缺損是一種罕見的病例，對於其形成原因也不甚了解，本文是一篇病例報告。
方法：本文報告一對十歲及七歲的姐弟，姐姐主訴從一歲開始即有眼球振顫的情形。而弟弟則主訴看東西時頭會偏向右邊。眼底檢查皆可見兩人兩眼黃斑部都有橢圓形的視網膜脈絡膜缺損。回顧其家族史及生產史，並無特別發現。全身性和眼球並無其它發育異常或缺損。
結果：電生理檢查包括視網膜電位圖呈a，b波伏呈輕度減，視誘導電位正常，視野檢查呈現輕微左眼盲點增大，一百種色調辨色力檢查呈現異常，暗適應檢查正常，血液血清生化檢查正常，弓漿蟲IgG抗體小於1:16，梅毒血清抗體(VDRL, TPHA)均正常。在五年追蹤期間視力並沒有惡化。
結論：家族性兩眼黃斑部缺損是一種少見的疾病，藉由詳細的眼科局部檢查，電生理檢查，血液血清生化檢查，全身性檢查有助於了解其致病機轉，以便於遺傳咨詢及公衛防治。我們的病例，除了黃斑部缺損外並沒有全身性缺陷和異常，且弓漿蟲IgG抗體檢查為正常，致病機轉應該是由於先天發育的異常。

並列摘要

Familial congenital bilateral macular coloboma is a rare case. The mechanisms of macular colobma are still controversial. Two mechanisms had been proposed: 1) congenital infection-congenital toxoplasmosis 2) congenital developmental anomaly-hereditary or sporadic. We reported a sibling-10 year-old sister and 7 year-old younger brother. They presented with nystagmus or exo-deviation. Their fundi all showed oval shape, 4 to 18 disc size, atrophic lesions in bilateral macular area with pigment clumps around their margin. Review the family history, no other family member had the same finding. Toxoplasma IgG antibody was negative. Electroretinogram showed decreased amplitude in both a and b wave. Concluded from above results, we thought the causes of familiar bilateral macular coloboma in this case being due to congenital developmental anomaly.

並列關鍵字

Familial ； Macular coloboma ； Toxoplasma IgG antibody