病例14　40歲女性，發(fā)現(xiàn)雙眼有白色沉著物1年

CASE 14　A 40-year-old female complaining of white spots in both eyes for 1 year

見圖1-21。See Fig. 1-21.

鑒別診斷

Differential Diagnosis

◎ 顆粒狀角膜營養(yǎng)不良：是一種常染色體顯性遺傳性疾病。1型角膜基質(zhì)可見多量細(xì)小的面包屑樣混濁，呈雪花樣；2型角膜基質(zhì)可見星狀、環(huán)狀、顆粒狀、線狀混濁，有些患者角膜混濁可呈指狀排列。

◎ Granular corneal dystrophy (GCD): This is an autosomal dominant disease. GCD1: “snowfall appearance” of multiple small crumb-like granules. GCD2: superf icial stars, rings,granules, and lines opacities in some cases in f inger-like appearance.

◎ 斑塊狀角膜營養(yǎng)不良：常染色體隱性遺傳，彌散性的全角膜基質(zhì)混濁。多量、不規(guī)則的灰白色結(jié)節(jié)樣病變可見于混濁區(qū)。

◎ Macular corneal dystrophy: This autosomal recessive disorder is characterized by a diffuse stromal haze extending limbus to limbus and throughout the corneal stroma.Multiple, irregular, gray-white, nodular lesions are found within the diffuse haze.

◎ 格子樣角膜營養(yǎng)不良：1型，常染色體顯性遺傳，突變位點(diǎn)5q31染色體上TGFBI基因，主要表現(xiàn)為角膜玻璃絲樣透明病變，通常不累及角膜緣。2型，常染色體顯性遺傳，9q34染色體凝膠蛋白基因突變。絲狀病變主要位于周邊部，密度比1型低。大部分病變位于前基質(zhì)。

◎ Lattice corneal dystrophy: Type 1 corneal dystrophy,autosomal dominant inheritance of the TGFBI gene on the 5q31 locus, most typically marked by ‘glass-like’f ilamentous lesions. Typically, the limbus is not involved.Type 2 corneal dystrophy, autosomal dominant inheritance of the gelsolin gene on 9q34. Filamentous lesions are present but they are more peripheral and less dense than in Type 1. Most lesions are in the anterior stroma.

◎ Reis-Bücklers角膜營養(yǎng)不良：是一種原因不明、罕見的角膜上皮基底膜營養(yǎng)不良，表現(xiàn)為雙眼角膜混濁，主要為上皮下和淺基質(zhì)層角膜混濁，地圖樣混濁是該病的特點(diǎn)。最早可于1歲發(fā)病，4~5歲進(jìn)展。為常染色體顯性遺傳性疾病，突變基因TGFBI。

◎ Reis-Bücklers corneal dystrophy: This is a rare corneal dystrophy of unknown cause, in which the Bowman’s layer of the cornea undergoes disintegration to produce a cloudiness in the corneas of both eyes. This disorder is characterized by subepithelial and superf icial stromal changes extending almost to the limbus. The geographiclike opacities are to be regarded as a landmark. The disorder is inherited in an autosomal dominant fashion, which may occur as early as 1 year of age, but usually develops by 4 to 5 years of age. And it is associated with mutations in the gene TGFBI.

◎ 施耐德角膜營養(yǎng)不良：是一種罕見的遺傳性角膜疾病，突變基因UBIAD1，表現(xiàn)為雙眼角膜中央?yún)^(qū)結(jié)晶樣混濁，周邊角膜脂質(zhì)環(huán)。主要由于膽固醇和脂質(zhì)在角膜基質(zhì)內(nèi)沉積引起角膜混濁，嚴(yán)重患者需要行角膜移植手術(shù)。

◎ Schnyder corneal dystrophy (SCD)：This is a rare form of corneal dystrophy caused by mutations in UBIAD1 gene.Stromal dystrophy characterized by progressive bilateral corneal opacif ication，with corneal crystal, midperipheral haze and arus lipoides. Cells in the cornea accumulate cholesterol and phospholipid deposits leading to the opacity,in severe cases requiring corneal transplants.

病史詢問

Asking History

◎ 起病時(shí)間：早期可無癥狀，角膜出現(xiàn)明顯混濁后可影響視力。

◎ Onset time and progression: Early stages of the disease may be asymptomatic and the diagnosis may be delayed until the occurrence of a distinct corneal opacity.

◎ 家族史：詢問家族史和全身性疾病史。

◎ Asking family history and history of systemic diseases.

眼部檢查

Examination

◎ 視力主要受角膜病變影響。角膜出現(xiàn)明顯混濁后可影響視力。

◎ Visual acuity is associated with characteristic corneal opacities that decrease with age.

◎ 裂隙燈檢查：GCD1型角膜基質(zhì)可見多量細(xì)小的面包屑樣混濁，呈雪花樣；GCD2型角膜基質(zhì)可見星狀、環(huán)狀、顆粒狀、線狀混濁，有些患者角膜混濁可呈指狀排列。

◎ Slit-lamp examination: GCD1: “snowfall appearance” of multiple small crumb-like granules. GCD2: superf icial stars,rings, granules, and lines opacities in some cases in f ingerlike appearance.

實(shí)驗(yàn)室檢查

Lab

◎ 角膜組織病理學(xué)檢查：GCD1型，角膜基質(zhì)可見透明樣變性；GCD2型，可見角膜基質(zhì)透明樣變性和淀粉樣沉積。◎ 基因檢查：GCD1型，5q31染色體TGFBI基因（Arg555Trp突變）；GCD2型，5q31染色體TGFBI基因（Arg124His突變）。

◎ Histopathology of the cornea: Hyaline deposits are the typical histopathological feature of GCD1. The histopathology of GCD2 patients demonstrates hyaline and amyloid deposits.

◎ Genetic testing: GCD1, TGFBI gene (Arg555Trp mutation) on chromosome 5q31. GCD2, TGFBI gene(Arg124His mutation) on chromosome 5q31.

診斷

Diagnosis

顆粒狀角膜營養(yǎng)不良。

Granular corneal dystrophy.

治療

Management

◎ 大多數(shù)不需要治療。

◎ Most patients do not need treatment.

◎ 可行準(zhǔn)分子激光治療性角膜切削術(shù)提高患者視力。對于進(jìn)展期患者，可行板層角膜移植術(shù)或者穿透性角膜移植術(shù)。

◎ To increase vision, phototherapeutic keratectomy can be performed. Lamellar keratoplasty or penetrating keratoplasty can be performed in advanced stage.

患者教育和預(yù)后

Patient Education & Prognosis

◎ 該病為常染色體顯性遺傳性疾病，進(jìn)展緩慢，早期通常不影響視力，晚期影響視力可行角膜移植，術(shù)后病變復(fù)發(fā)率較低。

◎ GCD is an autosomal dominant disease and slowly progressive disease. Vision minimally worsens with age.Keratoplasty can be performed in advanced stage. The rate of recurrence of GCD is low.