Kerrison J B
Wilmer Ophthalmological Institute, Johns Hopkins Hospital, Baltimore, Maryland, USA.
Ophthalmol Clin North Am. 2001 Mar;14(1):99-107.
Hereditary optic neuropathies comprise a group of disorders of the optic nerve that may be inherited in an autosomal recessive, autosomal dominant, X-linked, or maternal familial pattern. These disorders should be included in differential diagnosis of both congenital and acquired vision loss. They often present with a painless, slowly progressive, bilateral decreased vision. As in the case of LHON, a hereditary optic neuropathy may have an acute presentation. Clinical examination is characterized by bilateral decreased visual acuity, central scotomas on visual field testing, decreased color vision, and optic atrophy. Though a combination of family history, clinical presentation, age of onset, and associated findings may distinguish disorders, diagnosis may be facilitated by genetic testing.
遗传性视神经病变包括一组视神经疾病，这些疾病可能以常染色体隐性、常染色体显性、X连锁或母系家族模式遗传。这些疾病应纳入先天性和后天性视力丧失的鉴别诊断中。它们通常表现为无痛性、缓慢进展的双侧视力下降。与Leber遗传性视神经病变（LHON）一样，遗传性视神经病变可能有急性表现。临床检查的特征为双侧视力下降、视野检查出现中心暗点、色觉减退和视神经萎缩。虽然家族史、临床表现、发病年龄和相关发现的综合情况可能有助于区分不同疾病，但基因检测可能有助于诊断。
