【病因學(xué)】

1. 視網(wǎng)膜母細胞瘤（Retinoblastoma, Rb） 視網(wǎng)膜惡性腫瘤。

形態(tài)上分為三型：

①內生型：瘤體呈白色結節樣團塊，突向玻璃體生長(cháng)；

②外生型：瘤體向向我們深層發(fā)展，可造成視網(wǎng)膜脫離；

③彌漫浸潤型：病變呈彌漫、浸潤性生長(cháng)，可被誤診為葡萄膜炎。

常見(jiàn)虹膜新生血管，可發(fā)生假性前房積膿和玻璃體種植。白內障少見(jiàn)，眼球大小正常。

可以是單眼、雙眼或多灶性發(fā)病。常發(fā)生于12～24個(gè)月大的嬰兒。

大約10%可有家族史。

2. 弓蛔蟲(chóng)病 線(xiàn)蟲(chóng)感染，可表現為視網(wǎng)膜局限的白色隆起的肉芽腫；或是彌漫性眼內炎。

可伴有眼組織的局限性炎癥，玻璃體牽引帶合并黃斑牽引、牽引性視網(wǎng)膜脫離和白內障。

雙眼發(fā)病少見(jiàn)，一般發(fā)生于6個(gè)月～10歲的兒童。

前房穿刺抽取房水檢查可見(jiàn)嗜伊紅細胞，血清酶聯(lián)免疫吸附試驗（ELISA）弓蛔蟲(chóng)為陽(yáng)性。

患者可有接觸幼犬或不潔飲食史。

3. Coats病

視網(wǎng)膜血管異常，造成小的、多灶性視網(wǎng)膜血管外翻。

白瞳癥可繼發(fā)于滲出性視網(wǎng)膜脫離或廣泛的黃色視網(wǎng)膜內和視網(wǎng)膜下滲出。

通常發(fā)生于20歲以前的男性，重癥病例發(fā)生于10歲以前。

Coats病極少雙眼發(fā)病，沒(méi)有家族遺傳史。

4. 永存增生性原始玻璃體（PHPV）/永存胚胎血管（PFV） 發(fā)育性眼部異常，包括不同程度的玻璃體腔內神經(jīng)膠質(zhì)和血管增生。

通常合并有輕度的小眼球。

晶狀體后纖維膜可對睫狀突造成牽拉，病變呈進(jìn)展狀態(tài)，伴有生時(shí)或生后不久即出現的白內障。晶狀體后纖維膜和晶狀體可向前推移，使前房變淺，造成繼發(fā)青光眼?？捎幸暰W(wǎng)膜脫離。

多為單眼發(fā)病，沒(méi)有家族遺傳史。

5. 先天性白內障 生時(shí)出現晶狀體混濁，單眼或雙眼發(fā)病，可有家族遺傳史，或伴有全身性疾病。

6. 視網(wǎng)膜星形細胞瘤 無(wú)蒂的或輕度隆起的視網(wǎng)膜團塊，呈黃白色，可有鈣化。通常與結節性硬化癥有關(guān)，少數與神經(jīng)纖維瘤有關(guān)。

患有結節性硬化的患者可見(jiàn)視神經(jīng)巨大玻璃膜疣。

7. 早產(chǎn)兒視網(wǎng)膜病變（ROP） 多發(fā)于早產(chǎn)兒。

常因視網(wǎng)膜脫離而出現白瞳癥。

8. 其他 包括視網(wǎng)膜脈絡(luò )膜缺損、視網(wǎng)膜脫離、家族性滲出性玻璃體視網(wǎng)膜病變（FEVR）、有髓神經(jīng)纖維、葡萄膜炎、色素失調征。

【檢查】

1. 病史 發(fā)病年齡？有無(wú)前述疾病的家族史？有無(wú)早產(chǎn)？有無(wú)幼犬接觸史或不潔飲食習慣。

2. 全面的眼科檢查 包括角膜直徑測量，以觀(guān)察有無(wú)小眼球；檢查有無(wú)虹膜新生血管、白內障；散瞳查眼底和前部玻璃體。

3. 以下檢查有助于明確診斷和確定治療方案

（1）B型超聲 適用于無(wú)法窺見(jiàn)眼底的病例。

（2）眼底熒光血管造影適用于Coats病、早產(chǎn)兒視網(wǎng)膜病變、視網(wǎng)膜母細胞瘤。

（3）眼眶及顱腦CT或MRI 適用于視網(wǎng)膜母細胞瘤，尤其是雙眼病例或有家族史者，以及晚期Coats病患者。

（4）弓蛔蟲(chóng)血清ELISA試驗 大多數弓蛔蟲(chóng)感染病例，滴度1:8時(shí)為陽(yáng)性。

（5）全身檢查由小兒科醫師對視網(wǎng)膜星形細胞瘤和視網(wǎng)膜母細胞瘤患兒做全身檢查。

（6）房水細胞學(xué)檢查適用于弓蛔蟲(chóng)病。

4. 對于年齡小或不合作的兒童，特別是疑為視網(wǎng)膜母細胞瘤、弓蛔蟲(chóng)病、Coats病或早產(chǎn)兒視網(wǎng)膜病變者，可考慮在麻醉狀態(tài)下進(jìn)行檢查。

注：對視網(wǎng)膜母細胞瘤患眼做前房穿刺可導致腫瘤細胞擴散。

【治療】

1. 視網(wǎng)膜母細胞瘤 眼球摘除術(shù)，放療，光凝，化療，化學(xué)復位術(shù)，熱化療，有時(shí)采用其他方法。全身化療用于轉移癌。

2. 弓蛔蟲(chóng)病

（1）皮質(zhì)類(lèi)固醇藥物，根據炎癥的嚴重程度，局部滴眼，球周注射或全身用藥。

（2）玻璃體切除術(shù)：有玻璃體視網(wǎng)膜牽引帶形成，或藥物治療無(wú)效或惡化時(shí)。

（3）如果弓蛔蟲(chóng)可見(jiàn)，行激光光凝。

3. Coats病 激光光凝或冷凝封閉滲漏的血管，手術(shù)治療視網(wǎng)膜脫離，但手術(shù)效果欠佳。

4. 永存增生性原始玻璃體

（1）白內障摘除術(shù)和手術(shù)切除晶狀體后神經(jīng)膠質(zhì)膜。

（2）治療弱視。繼發(fā)于永存增生性原始玻璃體伴發(fā)的黃斑發(fā)育不良的患者的視力預后通常欠佳。

5. 先天性白內障 參見(jiàn)本章第八節先天性白內障。

6. 視網(wǎng)膜星形細胞瘤 觀(guān)察。

7. 早產(chǎn)兒視網(wǎng)膜病變 參見(jiàn)本章第二節早產(chǎn)兒視網(wǎng)膜病變。

【隨訪(fǎng)】

根據診斷而決定。

Definition定義

A white pupillaryreflex

Etiology【病因學(xué)】

? Retinoblastoma: Amalignant tumor of the retina that appears as a white, nodular mass extendinginto the vitreous (endophytic), as a mass lesion underlying a retinaldetachment (exophytic), or as a diffusely spreading lesion simulating uveitis(diffuse infiltrating). Iris neovascularization is common. Pseudohypopyon andvitreous seeding may occur. Cataract is uncommon, and the eye is normal insize. May be bilateral, unilateral, or multifocal. Diagnosis is usually madebetween 12 and 24 months of age. A family history may be elicited in about 10%.

? Toxocariasis: A nematode infection that mayappear as a localized, white, elevated granuloma in the retina or as a diffuseendophthalmitis. Associated with localized inflammation of ocular structures,vitreous traction bands and related macular dragging, traction retinaldetachment, and cataract. It is rarely bilateral and is usually diagnosedbetween 6 months and 10 years of age. Paracentesis of the anterior chamber mayreveal eosinophils; serum enzyme-linked immunosorbent assay (ELISA) test forToxocara organisms is positive. The patient may have a history of contact withpuppies or eating dirt.

? Coats disease (see Figure 8.1.2): A retinalvascular abnormality resulting in small multifocal outpouchings of the retinalvessels. Leukocoria may develop secondary to an exudative retinal detachment orto extensive yellow intraretinal and subretinal exudate. Usually develops inboys during the first two decades of life; more severe cases occur in the firstdecade of life. Coats disease is rarely bilateral. No family history.

? Persistent hyperplastic primary vitreous(PHPV)/Persistent fetal vasculature (PFV): A developmental ocular abnormalityconsisting of a varied degree of glial and vascular proliferation in thevitreous cavity. It is usually associated with a slightly small eye. Typicallythere is a membrane behind the lens that may place traction on the ciliaryprocesses. This is a progressive condition with a cataract present at birth orearly in life. The membrane and lens may rotate anteriorly, shallowing theanterior chamber and resulting in secondary glaucoma. Retinal detachments maybe seen. Rarely bilateral. No family history.

? Congenital cataract: Opacity of the lenspresent at birth; may be unilateral or bilateral. There may be a family historyor an associated systemic disorder. See 8.8, Congenital Cataract.

? Retinal astrocytoma: A sessile to slightlyelevated, yellow–white retinal mass that may becalcified and is often associated with tuberous sclerosis, and rarelyneurofibromatosis. May be associated with giant drusen of the optic nerve inpatients with tuberous sclerosis.

? Retinopathy of prematurity (ROP): Predominantlyoccurs in premature children. Leukocoria is usually the result of a retinaldetachment. See 8.2, Retinopathy of Prematurity.

? Others: retinochoroidal coloboma, retinaldetachment, familial exudative vitreoretinopathy (FEVR), myelinated nervefibers, uveitis, incontinentia pigmenti.

Work-Up檢查

1 History: Ageat onset? Family history of one of the conditions mentioned? Prematurity?Contact with puppies or habit of eating dirt?

2 Complete ocular examination,including a measurement of corneal diameters (look for a small eye), anexamination of the iris (look for neovascularization), and an inspection of thelens (look for a cataract). A dilated fundus examination and anterior vitreousexamination are essential.

3 Any or all of thefollowing may be helpful in diagnosis and planning treatment:

—B-scan ultrasonography(US), if there is no view of the fundus.

—Intravenous fluoresceinangiogram (Coats disease, ROP, retinoblastoma).

—Computed tomographic(CT) scan or magnetic resonance imaging (MRI) of the orbit and brain(retinoblastoma), particularly for bilateral cases or those with a familyhistory, as well as for cases of advanced Coats disease.

—Serum ELISA test forToxocara (positive at 1:8 in the vast majority of infected patients).

—Systemic examination(retinal astrocytoma, retinoblastoma) by pediatrician.

—Anterior chamberparacentesis (toxocariasis).

4 Consider examination underanesthesia (EUA) in young or uncooperative children, particularly when retinoblastoma,toxocariasis, Coats disease, or ROP is being considered as a diagnosis. See8.8, Congenital Cataract, for a more specific cataract work-up.

（Note

Anterior chamberparacentesis in a patient with a retinoblastoma can possibly lead to tumor celldissemination.

Treatment治療

1Retinoblastoma: Enucleation, irradiation, photocoagulation, cryotherapy,chemoreduction, chemothermotherapy, or occasionally other therapeuticmodalities. Systemic chemotherapy is used in metastatic disease.

2 Toxocariasis:

—Steroids (topical,periocular, or systemic routes may be used, depending on the severity of theinflammation).

—Consider a surgicalvitrectomy when vitreoretinal traction bands form or when the condition doesnot improve or worsens with medical therapy.

—Consider laserphotocoagulation of the nematode if it is visible.

3 Coats disease:Laser photocoagulation or cryotherapy to leaking vessels. Though associatedwith a poor outcome, surgery may be required for a retinal detachment.

4 PHPV:

—Cataract and retrolentalglial membrane extraction.

—Treat any amblyopia,though visual outcome is often poor secondary to foveal hypoplasia associatedwith PHPV.

5 Congenitalcataract: See 8.8, Congenital Cataract.

6 Retinalastrocytoma: Observation.

7 ROP: See 8.2,Retinopathy of Prematurity.

Follow-Up隨訪(fǎng)