PURPOSE: Charcot-Marie-Tooth disease type 2A (CMT2A) is caused by mutations in the mitofusin 2 (MFN2) genes associated with variable central nervous system (CNS) involvement. The authors report a case of a middle-aged woman with genetically confirmed CMT type 2 (CMT2), combined with delayed-onset bilateral optic neuropathy. CASE SUMMARY: A 47-year-old woman presented with complaints of subacute decrease of visual acuity in both eyes. Her corrected visual acuity was 20/200 in the right eye and 20/320 in the left eye. Fundus photographs revealed bilateral disc pallor and diffuse retinal nerve fiber layer defects. No papillomacular bundle defect was observed. Goldmann perimetry showed central scotoma in both eyes. She had suffered from muscle wasting of the legs and foot deformities such as high arches and hammer toes since childhood and required a wheelchair for ambulation. A series of CMT gene mutation tests revealed an MFN2 gene mutation, c.617C>T (p.Thr206Ile), and the patient was diagnosed with CMT2A. CONCLUSIONS: Charcot-Marie-Tooth disease is a common inherited neuromuscular disorder and CMT2A, an axonal CMT neuropathy, is associated with bilateral optic neuropathy. Therefore, suspecting CMT and testing for gene mutations as part of the work-up in patients with subacute bilateral optic neuropathy associated with peripheral neuropathy is critical.
Axons ; Central Nervous System ; Charcot-Marie-Tooth Disease* ; Female ; Foot Deformities ; Hammer Toe Syndrome ; Humans ; Leg ; Middle Aged ; Nerve Fibers ; Optic Nerve Diseases* ; Pallor ; Peripheral Nervous System Diseases ; Retinaldehyde ; Scotoma ; Visual Acuity ; Visual Field Tests ; Walking ; Wheelchairs

PURPOSE: To analyze the characteristics of defendants, court rulings and the compensation received in medical disputes relating to ophthalmology. METHODS: Retrospective analyses of ophthalmic claims obtained from websites between 1989 and 2014 were performed. RESULTS: Among 42 cases, 26 cases were ruled partially in favor of plaintiffs and 16 cases, ruled in favor of the defendant. Regarding the type of hospital, private clinics accounted for 22 claims, tertiary referral hospitals took 16 claims, and the secondary hospitals took 6 claims. The judgment amount of all of the lawsuits was Won1,770,466,250 and average amount was Won66,743,168 (Won5,000,000-Won455,869,936). The condition with the highest mean payment per claim was glaucoma (Won223,788,608). The consolation money for emotional distress due to violation of liability for explanation comprised a large proportion of the compensation, accounting for 62% of total payment. The conditions most likely to result in payment were those related to the retina, which occurred in 7 cases (70%). The conditions most likely to be appealed to a higher court were those involving oculoplasty (100%). Mismanagement of tests and misdiagnosis occurred in 8 cases (62%), mismanagement of treatment occurred in 3 cases (23%), and mismanagement of anesthesia and recovery occurred in 1 case (9%). CONCLUSIONS: Among all claims, those involving private clinics were most commonly involved (52%) and 62% of all claims were decided partially in favor of plaintiffs. Violation of liability during the explanation of the condition and negligence during the act of diagnosis and treatment were significant reasons for payment. Examination of these cases will help to promote patient safety and reduce repeated medical disputes.
Anesthesia ; Compensation and Redress ; Diagnosis ; Diagnostic Errors ; Dissent and Disputes ; Glaucoma ; Hospitals, Private ; Judgment ; Jurisprudence* ; Korea ; Malpractice ; Ophthalmology* ; Patient Safety ; Retina ; Retrospective Studies ; Tertiary Care Centers

PURPOSE: To analyze the characteristics of defendants, court rulings and the compensation received in medical disputes relating to ophthalmology. METHODS: Retrospective analyses of ophthalmic claims obtained from websites between 1989 and 2014 were performed. RESULTS: Among 42 cases, 26 cases were ruled partially in favor of plaintiffs and 16 cases, ruled in favor of the defendant. Regarding the type of hospital, private clinics accounted for 22 claims, tertiary referral hospitals took 16 claims, and the secondary hospitals took 6 claims. The judgment amount of all of the lawsuits was Won1,770,466,250 and average amount was Won66,743,168 (Won5,000,000-Won455,869,936). The condition with the highest mean payment per claim was glaucoma (Won223,788,608). The consolation money for emotional distress due to violation of liability for explanation comprised a large proportion of the compensation, accounting for 62% of total payment. The conditions most likely to result in payment were those related to the retina, which occurred in 7 cases (70%). The conditions most likely to be appealed to a higher court were those involving oculoplasty (100%). Mismanagement of tests and misdiagnosis occurred in 8 cases (62%), mismanagement of treatment occurred in 3 cases (23%), and mismanagement of anesthesia and recovery occurred in 1 case (9%). CONCLUSIONS: Among all claims, those involving private clinics were most commonly involved (52%) and 62% of all claims were decided partially in favor of plaintiffs. Violation of liability during the explanation of the condition and negligence during the act of diagnosis and treatment were significant reasons for payment. Examination of these cases will help to promote patient safety and reduce repeated medical disputes.
Anesthesia ; Compensation and Redress ; Diagnosis ; Diagnostic Errors ; Dissent and Disputes ; Glaucoma ; Hospitals, Private ; Judgment ; Jurisprudence* ; Korea ; Malpractice ; Ophthalmology* ; Patient Safety ; Retina ; Retrospective Studies ; Tertiary Care Centers

PURPOSE: To evaluate the early clinical results of lumbar microdiscectomy using minimally invasive tubular retractor (METRx-MD system, Medtronic Sofamor Danek, Memphis, TN), and to validate the merits of minimally invasive spinal surgery. MATERIALS AND METHODS: From April, 2003 to April 2004 we retrospectively studied a consecutive series of 45 patients who underwent lumbar microdiscectomy using minimally invasive tubular retractor. In all cases, minimally invasive approach using the tubular retractor were performed with a 2 cm sized paramedian incision. The following data were collected: clinical outcomes, operative time, intraoperative blood loss, need for blood replacement, time needed before ambulation, length of hospital stay, and complications. The clinical outcomes were assessed by the modified MacNab criteria. RESULTS: Minimally invasive tubular microdiscectomy was performed in 45 patients over a 12-month period with an average follow-up of approximately 8 months. The clinical outcomes assessed by MacNab criteria were excellent in 33 patients (73%), good in 10 patients (22%). The average operative time was 63 minutes (range, 35 to 95 minutes). The average blood loss was 62 mL (range, 50 to 110 mL). None of the patients needed blood replacement. With the exception of 2 patients, all patients could walk at the day of surgery. The average hospital stay was 2.3 days. None of the patients had dural tear, wound problem, or other complications. CONCLUSION: Lumbar microdiscectomy using tubular retractor can offer a useful modality for the treatment of lumbar herniated disc with the merits of minimally invasive spinal surgery. Further long-term, randomized, prospective investigations are needed to fully evaluate the impact of this technique.
Follow-Up Studies ; Humans ; Intervertebral Disc Displacement ; Length of Stay ; Operative Time ; Wounds and Injuries

Purpose: We sought to establish normative ranges of the ganglion cell-inner plexiform layer (GCIPL) thickness using spectral-domain optical coherence tomography in Korean elderly individuals and to identify factors that influence GCIPL thickness. Methods:  We conducted a retrospective, observational study of 114 healthy subjects (75 years old or older) who underwent comprehensive ophthalmic examinations at a single institution. GCIPL thickness was measured with the Cirrus spectral-domain optical coherence tomography system and automatic segmentation. Subjects were divided into two age groups: those younger than 80 years and those 80 years or older, respectively. A cross-sectional analysis was adopted to evaluate associations of GCIPL thickness with sex, age, intraocular pressure, optic disc rim area, axial length, spherical equivalent (SE) refractive errors, astigmatism, and body mass index. Results: The average and minimum GCIPL thicknesses were 80.3 ± 5.6 µm and 76.3 ± 5.9 µm, respectively. The GCIPL thickness was significantly lower in the older group than in the younger group in the inferior, inferonasal, and inferotemporal segments (all p < 0.01). A thinner average GCIPL thickness was strongly associated with increasing age (β = -2.87, p = 0.021) and thinner circumpapillary retinal nerve fiber layer thickness (β = 2.87, p < 0.001) in all segments. Conclusions GCIPL thickness decreased with age globally and in all segments, even after 75 years of age. Thinner GCIPL was associated with older age and thinner circumpapillary retinal nerve fiber layer. Age-related changes should be considered when using GCIPL thickness to assess glaucoma and other optic neuropathies characterized by retinal ganglion cell loss.

No abstract available.

Purpose: Reading speed and visual perception are used to evaluate visual function in children with amblyopia. This study used standardized tests to evaluate binocular reading performance and visual motor function in children treated for unilateral refractive amblyopia. Methods: In a prospective pilot study, reading and visual perception were evaluated in children aged 5-12 years who were diagnosed with unilateral refractive amblyopia between September 2020 and March 2021. To evaluate reading skills, the Readability Diagnostic Assessment and Korean Language-based Reading Assessment (KOLRA) were administered. The Korean version of the Developmental Test of Visual Perception-Third Edition (K-DTVP-3) test was used to evaluate visual perception function. Results: Reading ability and visual perception function were evaluated in 10 patients with unilateral refractive amblyopia. In the reading fluency test, the average reading speed of the patients was 185 ± 78.2 words per minute (WPM), and did not differ from that of the control group provided by KOLRA (p > 0.05). The general visual perception score was not significantly different from that of the controls. Among subtests of the K-DTVP-3, the hand coordination and figure-background tests scored 32.3 ± 17.7% and 29.9 ± 18.7%, respectively, lower than 50% of the normal average. The scores of the eye-hand coordination (r2 = 0.585, p = 0.01) and figure-background (r2 = 0.482, p = 0.03) tests were significantly correlated with the subject’s best-corrected visual acuity. Conclusions In this study, there was no significant difference in reading fluency between the patients and controls. Among the K-DTVP-3 subtests, the average scores of the hand coordination and figure-background tests were lower than normal. Further studies are required to determine whether the reading fluency test and K-DTVP-3 reflect visual perception deficits in amblyopic patients.

PURPOSE: To report a case of unilateral trochlear nerve schwannoma in a patient without neurofibromatosis. CASE SUMMARY: A 58-year-old male presented with acute onset of diplopia which developed 10 days prior. Alternate prism cover test, ductions and versions and Bielschowsky three-step test were compatible with left superior oblique muscle palsy. High-resolution magnetic resonance imaging showed a 6-mm-sized lobulated mass in the cisternal segment of the left trochlear nerve passing lateral to the brainstem. An additional thin-section gadolinium-enhanced orbit magnetic resonance imaging showed definite enhancement in the entire portion of the lobulated mass, compatible with a trochlear nerve schwannoma. Diplopia was managed conservatively with prism glasses and regular follow-up examinations were recommended without further treatment. CONCLUSIONS: A trochlear nerve tumor should be considered in adults who develop diplopia associated with acquired superior oblique muscle palsy.
Adult ; Brain Stem ; Diplopia* ; Eyeglasses ; Follow-Up Studies ; Glass ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neurilemmoma* ; Neurofibromatoses ; Orbit ; Paralysis ; Telescopes* ; Trochlear Nerve*