Abstract：
OBJECTIVE: To define the ophthalmic manifestations in KIF1A-associated neurologic disorder (KAND), a rare, progressive neurodegenerative disorder caused by pathogenic variants in the KIFA1 gene.
METHODS: Cross-sectional study.
METHODS: Clinical ophthalmic examination and multimodal imaging were performed for 24 participants enrolled in the KIF1AOutcome measures, Assessments, Longitudinal And endpoints (KOALA) Study. Visual evoked potentials (VEPs) were performed on select participants.
RESULTS: The average central visual acuity in pediatric participants was 20/43 (logMAR 0.329, range 0.0-1.0) and 20/119 (logMAR 0.773, range 0.471-1.351) in adults. Ninety-five percent of participants examined had some degree of optic nerve atrophy detected by clinical examination and/or optical coherence tomography (OCT). Almost 40% had strabismus. Color vision, visual fields, and stereopsis were impaired in most participants who were able to participate in testing. VEP showed varying degrees of signal slowing and diffuseness.
CONCLUSIONS: Optic nerve atrophy is the primary ocular finding in individuals with KAND and is present at higher prevalence than previously reported. The degree of the atrophy is likely dependent on the severity of the pathogenic variant and possibly the age of the patient. Adults had worse vision on average than children, suggesting possible decline in vision with age. Strabismus in this cohort was common. VEPs showed findings consistent with optic neuropathy and visual dysfunction even in the absence of obvious structural changes on OCT. Families should be counseled regarding visual impairment in KAND patients, so as to obtain appropriate support and assistance to maximize safety, functionality, and learning.
METHODS: Cross-sectional study.
METHODS: Clinical ophthalmic examination and multimodal imaging were performed for 24 participants enrolled in the KIF1AOutcome measures, Assessments, Longitudinal And endpoints (KOALA) Study. Visual evoked potentials (VEPs) were performed on select participants.
RESULTS: The average central visual acuity in pediatric participants was 20/43 (logMAR 0.329, range 0.0-1.0) and 20/119 (logMAR 0.773, range 0.471-1.351) in adults. Ninety-five percent of participants examined had some degree of optic nerve atrophy detected by clinical examination and/or optical coherence tomography (OCT). Almost 40% had strabismus. Color vision, visual fields, and stereopsis were impaired in most participants who were able to participate in testing. VEP showed varying degrees of signal slowing and diffuseness.
CONCLUSIONS: Optic nerve atrophy is the primary ocular finding in individuals with KAND and is present at higher prevalence than previously reported. The degree of the atrophy is likely dependent on the severity of the pathogenic variant and possibly the age of the patient. Adults had worse vision on average than children, suggesting possible decline in vision with age. Strabismus in this cohort was common. VEPs showed findings consistent with optic neuropathy and visual dysfunction even in the absence of obvious structural changes on OCT. Families should be counseled regarding visual impairment in KAND patients, so as to obtain appropriate support and assistance to maximize safety, functionality, and learning.
摘要：
目的：定义KIF1A相关神经系统疾病（KAND）的眼科表现，一种罕见的，由KIFA1基因致病变异引起的进行性神经退行性疾病。
方法：横断面研究。
方法：对参加KIF1AOutcome测量的24名参与者进行了临床眼科检查和多模态成像，评估，纵向和终点(KOALA)研究。对选定的参与者进行视觉诱发电位（VEP）。
结果：儿科参与者的平均中心视力为20/43（logMAR0.329，范围0.0-1.0），和成人20/119（logMAR0.773，范围0.471-1.351）。95％的参与者通过临床检查和/或光学相干断层扫描（OCT）检测到一定程度的视神经萎缩。几乎百分之四十有斜视。颜色视觉,大多数能够参与测试的参与者视野和立体视觉受损.VEP显示不同程度的信号减慢和扩散。
结论：视神经萎缩是KAND患者的主要眼部表现，其患病率高于先前报道的。萎缩的程度可能取决于致病变异的严重程度以及患者的年龄。成年人的平均视力比儿童差，这表明视力可能随着年龄的增长而下降。该队列中的斜视很常见。即使在OCT上没有明显的结构变化，视觉诱发电位也显示出与视神经病变和视觉功能障碍一致的发现。应就KAND患者的视力障碍向家庭提供咨询，以便获得适当的支持和援助，以最大限度地提高安全性，功能，和学习。
方法：横断面研究。
方法：对参加KIF1AOutcome测量的24名参与者进行了临床眼科检查和多模态成像，评估，纵向和终点(KOALA)研究。对选定的参与者进行视觉诱发电位（VEP）。
结果：儿科参与者的平均中心视力为20/43（logMAR0.329，范围0.0-1.0），和成人20/119（logMAR0.773，范围0.471-1.351）。95％的参与者通过临床检查和/或光学相干断层扫描（OCT）检测到一定程度的视神经萎缩。几乎百分之四十有斜视。颜色视觉,大多数能够参与测试的参与者视野和立体视觉受损.VEP显示不同程度的信号减慢和扩散。
结论：视神经萎缩是KAND患者的主要眼部表现，其患病率高于先前报道的。萎缩的程度可能取决于致病变异的严重程度以及患者的年龄。成年人的平均视力比儿童差，这表明视力可能随着年龄的增长而下降。该队列中的斜视很常见。即使在OCT上没有明显的结构变化，视觉诱发电位也显示出与视神经病变和视觉功能障碍一致的发现。应就KAND患者的视力障碍向家庭提供咨询，以便获得适当的支持和援助，以最大限度地提高安全性，功能，和学习。
