和Dr. D上小儿眼科的genetic门诊 (pediatric/strabismus斜视 clinic) diary

2022-03-11 Friday, 约有6个病人。

今天第一次跟Dr. D上眼科儿科门诊， 8点整就到了，问护士Dr. D的门诊在哪儿。护士将我带到Dr. D的旁边。Dr. D说今天全科有conference meeting, 大家都在楼下，我既可以选择下楼听课，也可以选择跟着上门诊（∴病人少）。我想课错过了就错过了，我今天的目的是学习临床的，就回答说我今天要在门诊。

1） Case 1: Usher disease.

1岁多的患儿，带有助听器（Hearing aids, not sure if he had Cochlear implants）。眼科检查暂时没有发现vision loss, 可以follow光源。

Usher syndrome involves both hearing loss and vision loss. The hearing loss may be mild to complete. The vision problem is called retinitis pigmentosa. The retinas of the eyes are slowly damaged over time. The retinas receive light and play a very important part in being able to see.

做了B scan, ENG (electronystagmography眼球震颤仪, 是检查balance problems)， VEP （visual evoked response）

·        遗传方式：Usher syndrome is passed on from parents to their children. It may be inherited when both parents are carriers of an abnormal gene. If both parents have the gene, they have a 1 in 4 chance of having a child with Usher syndrome with each pregnancy.

·        Symptoms:

o  Problems with hearing or deafness

o  Problems with balance

o  Problems with eyesight or blindness (retinitis pigmentosa)

交代患儿母亲视力暂时是好的，但是要随时复诊，还有目前有一款oligo injection的clinical trial正在本科进行（和公司合作的，全美各个大医院都在入组收Pt），以后可以入组进行研究性的治疗。

2）Case 2: 28 y.o. female. CC: eye classes doesn’t work well.

眼科检查：

Strabismus exam (斜视检查)

no diplopia (复视)

cycloplegic nystagmus （睫状肌麻痹 眼球震颤）

the right eye is jumping

horizontal rectus muscle 水平直肌 , astigmatism correction (散光矫正)

Recent pachymetry

Other diagnoses:

Bilateral carpal tunnel syndrome (双侧腕管综合征)

Dyspareunia in female (性交困难)

Vestibulitis vulvar (外阴前庭炎)

3) Cornea trauma的患者，在painting的时候一根指甲打到眼睛，将角膜横向贯通，没有伤及前房，视力光感。需要做角膜移植。所以工作的时候goggles很重要。

4) Early presbyopia (远视)+ amblyopia (lazy eye, 弱视)，配镜

5）会诊impatient患儿, 4 months old, CC: found lethargic (昏昏欲睡) in daycare for 10 min, called the ambulance.

microcephaly? Didn’t enjoy tummy time. Bur hole evacuation of biconvexity subdural hematoma (双凸硬膜下血肿)

我看着患儿头很大，还以为是hydrocephalus。