眼科学(Opthalmology)
眼科是医学和外科的一个分支，涉及到眼睛疾病的诊断和治疗。 英论阁Enago在眼科学领域具有深厚的专业知识，拥有眼科学和相关学科，如眼解剖、眼胚胎学、眼生理学、眼遗传学、眼科药物、眼科检查等相关学科的学科专业翻译师、双语校对以及英语母语学科专家编辑，且已翻译了大量此领域相关的论文，并协助诸多学术作者成功在国际知名SCI/EI/SSCI期刊上发表高水准论文。
角膜营养不良是一组多种双侧遗传非炎症性疾病。该疾病在临床上被分为三组，即浅层角膜营养不良、角膜基质营养不良和角膜后层营养不良。这三组疾病被进一步分类。斑点状角膜营养不良（MCD）是角膜基质营养不良的亚类。碳水化合物（N-乙酰葡萄糖胺 6-O）磺基转移酶 6（CHST6)）基因中的突变通常导致 MCD的形成 。但是， CHST6 编码区突变、上游区的删除/替换或剪接位点突变导致剪接信号丢失并不能解释全部 MCD 病例。
视网膜色素变性（RP）可导致多种疾病。有些患者在童年时期出现视力丧失的症状，而有些患者直到中年才出现症状。大多数患者都会出现经典症状，例如老年时难以适应黑暗和夜盲症（ 夜盲症），以及青春期初期视力丧失。随着疾病的进展，患者会失去远处的周边视觉，出现视野狭窄，最终失去中央视觉，这通常发生在 60 岁左右。其他类型的RP疾病中，会出现类似的视杆细胞和视锥细胞光感受器减少。有时，视锥细胞光感受器的减少要多于视杆细胞光感受器的减少，这被称为锥杆细胞变性。这是RP的一种形式，主要的初始症状是视力丧失和色觉缺陷。
学科专家翻译：精于您论文领域的翻译师翻译，用语精准
Corneal dystrophies are diverse bilateral genetic and non-inflammatory diseases limited to the cornea. Clinically, it is categorized into three groups; superficial corneal dystrophy, corneal stromal dystrophy, and posterior corneal dystrophy which are further subcategorized into other classes. Macular corneal dystrophy (MCD) is a subcategory of corneal stromal dystrophies. Mutation in carbohydrate (N-acetylglucosamine6-O) sulfotransferase 6 (CHST6) gene is usually responsible for MCD. However, all MCD cases can be explained by mutations in CHST6 coding region, deletion or replacement in the upstream region, or mutations in splice sites resulting in loss of splicing signal.
RP is a disease with a variety of disorders. Some patients show symptoms of vision loss during childhood while some others live without any symptoms. Most cases present classical symptoms of difficulties with adapting to darkness and night blindness (niatalopia) in oldage and loss of vision in early adolescence. Following the disease progression, they lose their distant peripheral vision, tunnel vision, and finally central vision which usually occurs at the age of sixty. The reduction of ROD and CONE is similar in other types. Sometimes the decrease in CONE is greater than that in ROD which is then called cone-rod degeneration, a form of RP in which the loss of vision and defects in color vision are the predominant initial symptoms.
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Corneal dystrophies are a group of diverse bilateral genetic and non-inflammatory diseases. Clinically, these diseases are categorized into three groups, namely superficial corneal dystrophy, corneal stromal dystrophy, and posterior corneal dystrophy; these groups are further subcategorized. One subcategory of corneal stromal dystrophy is macular corneal dystrophy (MCD), which is characterized by bilateral cloudy regions within a hazy stroma, eventually leading to severe visual impairment. Mutation in the carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6) gene is typically responsible for MCD. However, it is also caused by other factors, and all cases of MCD cannot be explained by mutations in the CHST6 coding region, deletion/replacement in the upstream region, or mutations in splice sites that result in splicing signal loss.
Retinitis pigmentosa (RP) is a disease that causes various disorders. Some patients show symptoms of loss of vision during childhood, whereas others do not show any symptoms until middle age. Most patients present with classic symptoms such as night blindness (nyctalopia) and difficulty in adapting to darkness in old age and loss of vision in early adolescence. With advanced disease progression, patients lose their distant peripheral vision, develop tunnel vision, and finally lose their central vision, which usually occurs around 60 years of age. The reduction in rod and cone photoreceptors is similar among other types of RP disorders. Sometimes, the decrease in cones is greater than that in rods, which is called cone–rod degeneration, a form of RP in which loss of vision and defects in color vision are the predominant initial symptoms.
