視網膜色素變性(一)

簡介

1、原發性視網膜色素變性在歷史上曾稱為色素性視網膜炎。中醫稱為“高風內障”是一種比較常見的毯層-視網膜變性。視網膜色素變性是一種少見的遺傳性眼病。本病表現為慢性、進行性視網膜變性,最終可導致失明。

2、部分患者視網膜色素變性為顯性遺傳,父母雙方只要有一方帶致病基因,子女就會發病。也有部分患者視網膜色素變性為連鎖性遺傳,僅僅母親帶致病基因,子女才會發病。另有些病例同時伴有聽力減退,這種類型視網膜色素變性多見于男性。

3、視網膜的一些感光細胞(視桿細胞)負責暗光下的視力。若視桿細胞逐漸變性,患者在暗光環境下視力明顯減退(夜盲)。夜盲癥狀常在兒童期即出現,隨時間發展,可出現進行性周邊視野缺失。在晚期病例中,可僅殘存一個小的中心視野(管狀視野)和很窄的周邊視野。

4、通過檢眼鏡檢查,醫生可發現視網膜上有某些具有診斷價值的特殊變化。也有數項檢驗可幫助進一步診斷。對家庭成員的檢查可建立遺傳模式。

誘發因素及預防

1、遮光眼鏡片之選用 強光可加速視細胞外節變性,所以必須戴用遮光眼鏡。鏡片的顏色從理論上說,應采用與視紅同色調的紅紫色,但有礙美容用灰色,陰天或室內用0~1號;晴天或強光下用2~3號灰色鏡片。深黑色墨鏡并不相宜。綠色鏡片禁用。

2、避免精神和肉體的過度緊張 過度緊張時體液內兒茶酚胺(catecholamine)增加,脈絡膜血管因此收縮而處于低氧(hypoxia)狀態,使視細胞變性加劇。我國傳統的氣功(靜功),能以自己的意志高速大腦皮層及機體各器官的活動,如持之以恒,對防止本病視功能迅速惡化方面可能有益。

  

臨床表現(癥狀與功能改變)

1、夜盲:為本病最早出現的癥狀,常始于兒童或青少年時期,且多發生在眼底有可見改變之前。開始時輕,隨年齡增生逐漸加重。極少數患者早期亦可無夜盲主訴。

2、暗適應檢查:早期錐細胞功能尚正常,桿細胞功能下降,使桿細胞曲線終未閾值升高,造成光色間差縮小。晚期桿細胞功能喪失,錐細胞閾值亦升高,形成高位的單相曲線。

3、與中心視力:早期有環形暗點,位置與赤道部病變相符。其后環形暗點向中心和周邊慢慢擴大而成管狀視野。中心視力早期正常或接近正常,隨病程發展而逐漸減退,終于完全失明。

4、電生理:ERG無反應,尤其b波消失是本病的典型改變,其改變常早于眼底出現改變。EOG LP/DT明顯降低或熄滅,即使在早期,當視野、暗適應、甚至ERG等改變尚不明顯時,已可查出。故EOG對本病診斷比ERG更為靈敏。 5、多數患者童年時色覺正常,其后漸顯異常。典型改變為藍色盲,紅綠色覺障礙較少。

 

眼底檢查所見

本病早期雖已有夜盲,眼底可完全正常。俟后隨病程進展而漸次出現眼底改變。典型的改變有:1)視網膜色素沉著 2)視網膜血管改變 

特殊臨床類型

⑴單眼性原發性視網膜色素變性:非常少見。 ⑵象限性原發性視網膜色素變性:亦甚少見。 ⑶中心性或旁中心性原發性視網膜色素變性 ⑷無色素性視網膜色素變性

鑒別診斷

根據上述病史、癥狀、視功能及檢眼鏡檢查所見,診斷并無太大困難。但當與一些先天生或后天性脈絡膜視網膜炎癥后的繼發性視網膜色素變性注意鑒別。

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