Charcot-Marie-Tooth disease (CMT) is a progressive hereditary peripheral neuropathy characterized by symmetrical distal muscle atrophy, sensory impairment, disappearance of tendon reflexes in both lower limbs, arch foot, claw hand, and scoliosis. This article reports a family of CMT type 4C (CMT4C), whose proband carries a compound heterozygous mutation of c.2782C>T and c.1586G>A in the SH3TC2 gene, with ataxia as the main symptom. The literatures related to CMT4C patients in major databases at home and abroad are summarized to provide reference for early identification and diagnosis of this type of patient.

Idiopathic intracranial hypertension (IIH) is a neurological disorder characterized by an unexplained increase in intracranial pressure that primarily affects obese women of childbearing age, but individuals of any age, gender, or weight may also be affected. Its signature symptoms include disc edema, headache, visual disturbance, and throbbing tinnitus. Due to potentially serious complications, such as vision loss, accurate diagnosis and appropriate treatment management are critical to improving patients' quality of life. Ophthalmologists play a key role in the treatment process, as about half of patients first visit the eye department. Diagnosis of IIH depends not only on clinical presentation, but also on the exclusion of other diseases that may cause similar symptoms, and imaging and other tests to ensure an accurate diagnosis. In order to improve diagnostic accuracy and treatment efficiency, multidisciplinary collaborative diagnosis and treatment mode is advocated, especially in the face of patients with complex trauma or systemic diseases, which can effectively shorten the treatment time and ensure patient safety. Future research directions include establishing China's IIH epidemiological database, exploring clinical diagnosis and treatment methods and basic scientific research, aiming at forming diagnosis and treatment standards suitable for China's national conditions, improving medical level and improving patient prognosis. At the same time, a deeper understanding of the different forms of IIH will better serve the affected populations.

Idiopathic intracranial hypertension (IIH) is a neurological disorder that causes an unexplained increase in intracranial pressure. Its main clinical manifestations include chronic headache, visual impairment, and typical unilateral or bilateral disk edema found on fundus examination. The diagnosis of IIH depends on the exclusion of other diseases that may cause increased intracranial pressure and further confirmation by systemic and neurological imaging. Current treatment strategies for IIH include lifestyle adjustments for weight loss, pharmacological interventions, and surgery if necessary to reduce intracranial pressure and relieve patient-related symptoms. Maximum protection and restoration of visual function. In the future, it is necessary to further improve the IIH diagnostic process and criteria to guide personalized treatment and prognosis judgment. The effective use of artificial intelligence technology for image segmentation and combined image omics analysis is expected to improve the accuracy of IIH intelligent diagnosis, achieve earlier and more accurate disease detection, and provide patients with a more personalized treatment path.

Objective:To compare the mydriatic effects of a combination of 1% tropicamide and 2.5% phenylephrine with a 0.5% tropicamide and 0.5% phenylephrine combination in patients with type 2 diabetes.Methods:A randomized, double-blind, controlled trial was conducted.Ninety Chinese patients (90 eyes) with dark irises and type 2 diabetes who needed mydriasis examination at the Fundus Disease Clinic of Tianjin Medical University Eye Hospital from June to September 2024 were included.The subjects were divided into control group (30 patients 30 eyes), high concentration group (30 patients 30 eyes) and half-dilution group (30 patients 30 eyes) using the random number table method, which received 2 drops of a mixture of 0.5% tropicamide and 0.5% phenylephrine, 2 drops of a mixture of 1% tropicamide and 2.5% phenylephrine, 1 drop of a mixture of 1% tropicamide and 2.5% phenylephrine+ 1 drop of saline respectively.The pupil diameter of the patients was measured with a pupillometer 40 minutes before and after instillation.The study adhered to the Declaration of Helsinki and the study protocol was approved by the Ethics Committee of Tianjin Medical University Eye Hospital (No.2024KY-16).Written informed consent was obtained from all participants.Results:The proportions of patients whose pupil diameters reached 7 mm 40 minutes after the initial administration in the control group, high-concentration group, and half-dilution group were 56.7%(17/30), 86.7%(26/30) and 66.7%(20/30), respectively, with a statistically significant overall difference ( χ2=6.667, P=0.036).The proportion of patients in the high-concentration group whose pupil diameter reached 7 mm 40 minutes after the initial administration was higher than that in the control group, and the difference was statistically significant ( P<0.05).The pupil diameters 40 minutes after the initial administration in the control group, the high-concentration group and the half-dilution group were (7.01±0.86), (7.64±0.61) and (7.49±1.15)mm, respectively, with a statistically significant overall difference ( F=4.019, P=0.021), and the pupil diameter of the high-concentration group was significantly higher than that of the control group ( P=0.024).Changes in pupil diameter 40 minutes after the initial administration in the control group, high-concentration group and half-dilution group were (3.23±0.81), (3.82±0.60) and (3.62±0.75)mm, respectively, with a statistically significant overall difference ( F=5.121, P=0.008), and the change in pupil diameter in the high-concentration group was higher than that in the control group ( P=0.007). Conclusions:The combination of 1% tropicamide and 2.5% phenylephrine has better pupil dilation than the combination of 0.5% tropicamide and 0.5% phenylephrine.It is recommended that pupil dilation be performed with a high-concentration mydriatic drug prior to outpatient fundus examination for diabetic patients.

Objective To evaluate answers to typical clinical questions related to neuro-ophthalmology generated by Artificial Intelligence(AI)Large Language Models(LLM)and to explore the performance of neuro-ophthalmology-related questions on LLM in a multidimensional manner using objective and expert assessment.Methods Multicenter,random-ized,cross-sectional pilot study.Thirty typical questions related to neuro-ophthalmology were selected based on four per-spectives:definition,etiology,clinical manifestations and signs,and treatment and prognosis,and were analyzed quantita-tively using Deepseek,Wenxin Yiyin 4.0,Doubao,and Kimi 1.5,which are four open-source LLMs in China,and quantita-tively analyzed with objective assessment;and quantitatively rated by three ophthalmologists using expert assessment for 120 answer texts.Three ophthalmology experts quantitatively scored the 120 answer texts.Three ophthalmologists quantita-tively scored the 120 answer texts.Level 3,5,and 4 Likert scales were developed according to the completeness,accura-cy,professionalism,relevance,and criticality of the question texts,respectively.The best-performing LLM was selected,and its performance was observed across the four types of questions.Additionally,three other experts assessed whether the best-performing one could be evaluated as a substitute for real-world doctor-patient communication.Results In the objective Chinese text reading difficulty analysis,the differences in total word count among the four LLMs were statistically significant(all P＜0.001).Of the four LLMs,Kimi 1.5 performed the best,with frequencies of 61％,29％,and 41％for the highest scores in completeness(3),accuracy and professionalism(5),and relevance and usefulness(4),respective-ly.Kimi 1.5 performed more consistently on the questions on the four areas of neuro-ophthalmologic disorders:definition,etiology,clinical manifestations and signs,treatment,and prognosis,with no between-group differences(P＞0.05).Con-clusion Chinese language LLMs have great potential in the clinical application of neuro-ophthalmology.Kimi 1.5 outper-forms other LLMs in terms of completeness,accuracy,professionalism,relevance,and usefulness,but it still cannot re-place real-world doctor-patient communication.There is a need to explore new diagnostic and therapeutic model of AI+physician in the future.

Objective:To compare the mydriatic effects of a combination of 1% tropicamide and 2.5% phenylephrine with a 0.5% tropicamide and 0.5% phenylephrine combination in patients with type 2 diabetes.Methods:A randomized, double-blind, controlled trial was conducted.Ninety Chinese patients (90 eyes) with dark irises and type 2 diabetes who needed mydriasis examination at the Fundus Disease Clinic of Tianjin Medical University Eye Hospital from June to September 2024 were included.The subjects were divided into control group (30 patients 30 eyes), high concentration group (30 patients 30 eyes) and half-dilution group (30 patients 30 eyes) using the random number table method, which received 2 drops of a mixture of 0.5% tropicamide and 0.5% phenylephrine, 2 drops of a mixture of 1% tropicamide and 2.5% phenylephrine, 1 drop of a mixture of 1% tropicamide and 2.5% phenylephrine+ 1 drop of saline respectively.The pupil diameter of the patients was measured with a pupillometer 40 minutes before and after instillation.The study adhered to the Declaration of Helsinki and the study protocol was approved by the Ethics Committee of Tianjin Medical University Eye Hospital (No.2024KY-16).Written informed consent was obtained from all participants.Results:The proportions of patients whose pupil diameters reached 7 mm 40 minutes after the initial administration in the control group, high-concentration group, and half-dilution group were 56.7%(17/30), 86.7%(26/30) and 66.7%(20/30), respectively, with a statistically significant overall difference ( χ2=6.667, P=0.036).The proportion of patients in the high-concentration group whose pupil diameter reached 7 mm 40 minutes after the initial administration was higher than that in the control group, and the difference was statistically significant ( P<0.05).The pupil diameters 40 minutes after the initial administration in the control group, the high-concentration group and the half-dilution group were (7.01±0.86), (7.64±0.61) and (7.49±1.15)mm, respectively, with a statistically significant overall difference ( F=4.019, P=0.021), and the pupil diameter of the high-concentration group was significantly higher than that of the control group ( P=0.024).Changes in pupil diameter 40 minutes after the initial administration in the control group, high-concentration group and half-dilution group were (3.23±0.81), (3.82±0.60) and (3.62±0.75)mm, respectively, with a statistically significant overall difference ( F=5.121, P=0.008), and the change in pupil diameter in the high-concentration group was higher than that in the control group ( P=0.007). Conclusions:The combination of 1% tropicamide and 2.5% phenylephrine has better pupil dilation than the combination of 0.5% tropicamide and 0.5% phenylephrine.It is recommended that pupil dilation be performed with a high-concentration mydriatic drug prior to outpatient fundus examination for diabetic patients.

Objective To evaluate answers to typical clinical questions related to neuro-ophthalmology generated by Artificial Intelligence(AI)Large Language Models(LLM)and to explore the performance of neuro-ophthalmology-related questions on LLM in a multidimensional manner using objective and expert assessment.Methods Multicenter,random-ized,cross-sectional pilot study.Thirty typical questions related to neuro-ophthalmology were selected based on four per-spectives:definition,etiology,clinical manifestations and signs,and treatment and prognosis,and were analyzed quantita-tively using Deepseek,Wenxin Yiyin 4.0,Doubao,and Kimi 1.5,which are four open-source LLMs in China,and quantita-tively analyzed with objective assessment;and quantitatively rated by three ophthalmologists using expert assessment for 120 answer texts.Three ophthalmology experts quantitatively scored the 120 answer texts.Three ophthalmologists quantita-tively scored the 120 answer texts.Level 3,5,and 4 Likert scales were developed according to the completeness,accura-cy,professionalism,relevance,and criticality of the question texts,respectively.The best-performing LLM was selected,and its performance was observed across the four types of questions.Additionally,three other experts assessed whether the best-performing one could be evaluated as a substitute for real-world doctor-patient communication.Results In the objective Chinese text reading difficulty analysis,the differences in total word count among the four LLMs were statistically significant(all P＜0.001).Of the four LLMs,Kimi 1.5 performed the best,with frequencies of 61％,29％,and 41％for the highest scores in completeness(3),accuracy and professionalism(5),and relevance and usefulness(4),respective-ly.Kimi 1.5 performed more consistently on the questions on the four areas of neuro-ophthalmologic disorders:definition,etiology,clinical manifestations and signs,treatment,and prognosis,with no between-group differences(P＞0.05).Con-clusion Chinese language LLMs have great potential in the clinical application of neuro-ophthalmology.Kimi 1.5 outper-forms other LLMs in terms of completeness,accuracy,professionalism,relevance,and usefulness,but it still cannot re-place real-world doctor-patient communication.There is a need to explore new diagnostic and therapeutic model of AI+physician in the future.

Charcot-Marie-Tooth disease (CMT) is a progressive hereditary peripheral neuropathy characterized by symmetrical distal muscle atrophy, sensory impairment, disappearance of tendon reflexes in both lower limbs, arch foot, claw hand, and scoliosis. This article reports a family of CMT type 4C (CMT4C), whose proband carries a compound heterozygous mutation of c.2782C>T and c.1586G>A in the SH3TC2 gene, with ataxia as the main symptom. The literatures related to CMT4C patients in major databases at home and abroad are summarized to provide reference for early identification and diagnosis of this type of patient.

Idiopathic intracranial hypertension (IIH) is a neurological disorder characterized by an unexplained increase in intracranial pressure that primarily affects obese women of childbearing age, but individuals of any age, gender, or weight may also be affected. Its signature symptoms include disc edema, headache, visual disturbance, and throbbing tinnitus. Due to potentially serious complications, such as vision loss, accurate diagnosis and appropriate treatment management are critical to improving patients' quality of life. Ophthalmologists play a key role in the treatment process, as about half of patients first visit the eye department. Diagnosis of IIH depends not only on clinical presentation, but also on the exclusion of other diseases that may cause similar symptoms, and imaging and other tests to ensure an accurate diagnosis. In order to improve diagnostic accuracy and treatment efficiency, multidisciplinary collaborative diagnosis and treatment mode is advocated, especially in the face of patients with complex trauma or systemic diseases, which can effectively shorten the treatment time and ensure patient safety. Future research directions include establishing China's IIH epidemiological database, exploring clinical diagnosis and treatment methods and basic scientific research, aiming at forming diagnosis and treatment standards suitable for China's national conditions, improving medical level and improving patient prognosis. At the same time, a deeper understanding of the different forms of IIH will better serve the affected populations.

Idiopathic intracranial hypertension (IIH) is a neurological disorder that causes an unexplained increase in intracranial pressure. Its main clinical manifestations include chronic headache, visual impairment, and typical unilateral or bilateral disk edema found on fundus examination. The diagnosis of IIH depends on the exclusion of other diseases that may cause increased intracranial pressure and further confirmation by systemic and neurological imaging. Current treatment strategies for IIH include lifestyle adjustments for weight loss, pharmacological interventions, and surgery if necessary to reduce intracranial pressure and relieve patient-related symptoms. Maximum protection and restoration of visual function. In the future, it is necessary to further improve the IIH diagnostic process and criteria to guide personalized treatment and prognosis judgment. The effective use of artificial intelligence technology for image segmentation and combined image omics analysis is expected to improve the accuracy of IIH intelligent diagnosis, achieve earlier and more accurate disease detection, and provide patients with a more personalized treatment path.