病例28　出生后61天嬰兒，雙眼瞳孔區變白

CASE 28　Leukocoria was observed in both eyes of an infant 61 days after birth

見圖1-45。See Fig. 1-45.

鑒別診斷

Differential Diagnosis

◎ 先天性白內障：出生后立即發生的晶狀體混濁。可單眼或雙眼發病，可以有家族史或合并全身疾病。

◎ Congenital cataract: Lens opacif ication occurs im mediately after birth, which may be monocular or binocular.The patient may have a family history of lens opacif ication,or it may occur in association with a systemic disease.

◎ 早產兒視網膜病變：患兒低體重，可有早產史和吸氧史，雙眼發生程度不等的增生性病變，嚴重者可發生牽拉性視網膜脫離。B超和彩色多普勒超聲有助于鑒別。

◎ Retinopathy of prematurity (ROP): Children with low body weight may have a history of premature delivery and supplemental oxygen therapy. Both eyes have hyperplastic lesions of varying degrees, and in severe cases, traction retinal detachment may occur. B-scan ultrasonography and color f low Doppler are helpful for identif ication of ROP.

◎ Coats病：多為健康男性青少年，單眼發病，視網膜血管異常擴張，伴微血管瘤，視網膜下大量黃白色滲出，伴出血和膽固醇結晶的彩色反光，可繼發滲出性視網膜脫離。眼底檢查、B超、彩超，必要時CT、MRI檢查可鑒別。

◎ Coats’ disease: This predominantly occurs in healthy adolescent boys. It manifests as monocular morbidity,abnormal retinal vascular dilation, micro a n eurysms,yellow exudation, hemorrhage, cholesterol crystals, and exudative retinal detachment. Fundus examination,B-scan ultrasonography, color f low Doppler, computed tomography (CT), and magnetic resonance imaging (MRI)may be performed when necessary.

◎ 視網膜母細胞瘤：眼部檢查經瞳孔可見黃白色反光，可引起失用性外斜視，但患兒晶狀體透明。B超檢查有重要臨床意義，可見強回聲及鈣化斑。

◎ Retinoblastoma: In this disease, a yellowish-white ref lection in the pupil is observed during eye exam ination,which may also be associated with disuse exotropia. The lens remains transparent. B-scan ultrasonography demonstrates strong echo and calcif ied spots, which is of considerable clinical signif icance.

◎ 永存性胚胎血管(PFV)：永存性胚胎血管是胚胎期形成的血管疾病。這種情況通常發生在足月出生的孩子身上。患兒常合并單側小眼球，伴視力低下，B超檢查有助于診斷。

◎ Persistent fetal vasculature (PFV): PFV is a disease associated with persistence of primitive blood vessels formed during the embryonic stage. This cond i tion usually occurs in children born after a full-term pregnancy. Children with PFV have one smaller eye and may also have poor vision. B-scan ultras o n og r a p h y is helpful for diagnosis.

病史詢問

Asking History

◎ 患兒出生時的情況，如胎齡、體重、是否有吸氧史。

◎ Asking the history of the baby’s birth, such as ge s t ational age, birth weight, history of supplemental oxygen therapy.

◎ 患兒單眼發病還是雙眼發病。

◎ Whether the disease is monocular or binocular.

◎ 是否有先天性白內障病史或家族史。

◎ The family history of congenital cataract.

◎ 妊娠期間是否有病毒感染或藥物服用史。

◎ The history of viral infection or other drugs taken during pregnancy.

檢查

Examination

◎ 在非散瞳狀態下通過直接檢眼鏡觀察紅光反射，以判斷白內障的范圍及對視力的影響。如果紅光反射較弱，說明白內障較重。

◎ At non-dilated pupil, the red light ref lection is observed by direct ophthalmoscope to determine the scope and position of the cataract and its effect on vision. The cataract is considered severe in case of weak red light ref lection.

◎ 測眼壓。

◎ Examine IOP.

◎ 散瞳檢查眼底，除外視神經及眼底異常，必要時需行B超檢查，除外視網膜脫離和腫物。大部分檢查需要在全麻下進行。

◎ The optic nerve and retina should be examined for abnormalities after dilating the pupil. If the fundus view is obscured, B-scan ultrasonography is required to rule out retinal detachment and mass lesions. Most examinations are performed under general anesthesia.

◎ 雙眼患兒建議行基因檢測，并到兒科做專科檢查除外相關疾病。

◎ Gene testing is recommended for children with cat aracts in both eyes. Examination should be perfo r m e d by a pediatrician for associated abnor m a lities.

實驗室檢查

Lab

◎ 檢測紅細胞半乳糖激酶活性，除外半乳糖血癥。

◎ Blood examination: Red blood cell (RBC) gal a c tokinase activity (galactokinase levels) should be evaluated to rule out galactosemia.

診斷

Diagnosis

先天性白內障。

Congenital cataract.

治療

Management

◎ 當視力受影響時應盡早行白內障摘除，隨后進行人工晶狀體植入或角膜接觸鏡治療，以防止弱視。術后應進行系統的弱視治療。

◎ In case of vision obstruction, cataract surgery foll o wed by IOL implantation or contact lens should be perf ormed as soon as possible to prevent amblyopia. Amb l yopia should be treated following cataract surgery.

◎ 對于影響視力尚不顯著的患兒，可先行散瞳治療以通過周邊光線的射入刺激視覺發育。待患兒長大或視力影響明顯時再行手術。

◎ A pupil-dilating agent may be used as a temporary mea sure to allow peripheral light rays to pass around the opacity of the lens and reach the retina to stim u l ate visual development.Cataract surgery should be per f o rmed after the patient has reached adulthood or if the visual disturbance is obvious.

◎ 單眼患兒容易導致弱視，即使未影響視軸區的光通路也應進行手術治療，并且進行弱視訓練。

◎ Amblyopia is common in children with monocular cataract.Even if the optical axis is not occluded by the cataract, surgery and amblyopia training should be performed.

患者教育和預后

Patient Education & Prognosis

◎ 非手術的嬰幼兒應密切觀察白內障的進展，并判斷其對弱視的影響。年齡稍大的患兒弱視程度較輕，復查的間隔稍長。

◎ Infants and young children who do not undergo surgery should be closely monitored for cataract progression and amblyopia. Amblyopia is less likely to develop in older children, even if the cataract progresses. Therefore, this age group is followed-up less frequently.

◎ 幼兒白內障術后反應較成人嚴重，且容易出現瞳孔后粘連和繼發性青光眼等，因此需要術后積極的抗炎治療，并密切觀察患兒眼壓變化。告知家長，幼兒后發性白內障的發生率為100%，有二次手術的可能。另外，術后患兒常需配鏡并應堅持戴鏡，每半年復查調整度數，并積極配合弱視訓練。

◎ Postoperative inf lammatory reaction is much more severe in premature cataracts compared with those in adults. These patients are prone to developing secondary glaucoma and posterior pupil adhesion. Therefore, active postoperative anti-inf lammatory treatment is required. IOP should also be closely monitored. Posterior capsule opacif ication occurs in 100% of cases. It is the most common complication that occurs following cataract surgery in infants. Therefore, it is necessary to explain to the parents of the children that a secondary procedure may be needed. After surgery, spectacles should be prescribed to correct aphakia, adjusted every half a year, and amblyopia training should be performed as soon as possible.