• Journal of The Korean Ophthalmological Society
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• v.59 no.11
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• pp.1024-1029
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• 2018

Purpose: We examined aqueous humor levels of 25-hydroxyvitamin D (vitamin D) in patients with age-related macular degeneration to investigate possible relationships between aqueous humor vitamin D levels and clinical manifestations. Methods: Patients > 50 years of age, 52 eyes of 34 patients with age-related macular degeneration, and 23 eyes of 17 patients treated with cataract surgery without retinal disease, were examined for aqueous humor vitamin D levels and compared. The experimental group was divided into two groups according to the median value of aqueous humor vitamin D levels. We compared the clinical manifestations of macular degeneration in both groups and identified relationships between aqueous humor vitamin D levels and clinical features. Results: Vitamin D levels in the aqueous humor were significantly lower in the experimental group than in the control group (experimental, $10.03{\pm}10.1ng/mL$ vs. control group, $40.8{\pm}16.4ng/mL$; p < 0.001). Patients with high vitamin D levels in the macular degeneration group had a higher percentage of fibrovascular pigment epithelial detachments than those in the low grade group (high grade group, 65% vs. low grade group, 27%; p = 0.003). Multiple linear regression analysis showed a significant correlation between vitamin D levels and the total number of anti-vascular endothelial growth factor intravitreal injections within 6 months (standardize coefficient, ${\beta}=-0.336$). Conclusions: Patients with wet age-related macular degeneration had significantly lower vitamin D levels in the aqueous humor compared to control group subjects of similar ages. However, in patients with macular degeneration, low vitamin D levels were associated with a greater number of intravitreal injections, while higher levels of vitamin D may lead to more advanced forms of fibrovascular retinal pigment epithelium and related low vision. These relationships were not always constant, so further studies on the relationships between local vitamin D levels and ocular disorders are needed.

• Journal of The Korean Ophthalmological Society
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• v.59 no.11
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• pp.1017-1023
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• 2018

Purpose: A recently introduced phacoemulsification system, the WhiteStar $Signature^{(R)}$ PRO, has demonstrated improved nucleus followability and cutting efficiency via an improved pump regulator with a higher reaction response and an automatic occlusion sensing system. In this study, we compared various phacoemulsification parameters between the new system and an older version of the device. Methods: A total of 80 eyes of 68 patients with cataracts who had undergone phacoemulsification by a single surgeon were included in this study. Forty eyes of patients underwent phacoemulsification using the older $Signature^{(R)}$ system (WhiteStar); these patients were classified as the control group. Another 40 eyes of patients underwent phacoemulsification with the newer enhanced system, the WhiteStar $Signature^{(R)}$ PRO; these patients were assigned to the experimental group. During the operation, operative parameters, including the effective phaco time (parameter of effective phaco time with a specific coefficient for the transversal movement expressed in seconds, EFX), ultrasound time (seconds [s]), effective phacoemulsification time (EPT, s), average phacoemulsification power (AVG, %), and balanced salt solution usage, were measured to determine the performance enhancement offered by the updated system. Central corneal thickness was measured before and after surgery to compare corneal edema. The relationships between the two groups were analyzed using an independent t-test. Results: The Signature $PRO^{(R)}$ system showed a lower EFX (p < 0.001), a shorter EPT (p < 0.001), and a smaller AVG (p < 0.001). Postoperative corneal thickness did not differ significantly between the two groups. Conclusions: Comparing the efficacy of the improved reaction speed of the device and automatic occlusion sensing system in performing phacoemulsification, the updated Signature $PRO^{(R)}$ system demonstrated superior followability and cutting efficiency regardless of nuclear cataract hardness.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.25-30
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• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

• Tuberculosis and Respiratory Diseases
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• v.48 no.4
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• pp.530-542
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• 2000

Background : Nonspecific interstitial pneumonia (NSIP) has been reported recently to have shown much better response to medical treatment and better prognosis compared with idiopathic UIP. However, clinical characteristics of idiopathic NSIP discriminating it from UIP have not been clearly defined. Method : Among 120 patients with biopsy-proven diffuse interstitial lung diseases admitted to the Samsung Medical Center between July 1996 and March 2000, 18 patients with idiopathic NSIP were included in this study. Retrospective chart review and radiographic analysis were performed. Results : 1) At diagnosis, 17 patients were female and the average age was $55.2{\pm}8.4$ years (44~73 years). The average duration from development of respiratory symptom to surgical lung biopsy was $9.9{\pm}17.1$ months. Increase in bronchoalveolar lavage fluid lymphocytes ($23.0{\pm}13.1%$) was noted. On HRCT, ground glass and irregular linear opacity were observed, but honeycombing was absent in all patients. 2) Corticosteroids were initially given to 13 patients, but the medication was stopped in 3 patients due to severe side effects. Further medical therapy was not possible in 1 patient who experienced streroid-induced psychosis. Herpes zoster (n=3), tuberculosis (n=1), avascular necrosis of the hip (n=1), cataract (n=2) and diabetes mellitus (n=1) developed during prolonged corticosteroid administration. Of the 7 patients receiving oral cyclophosphamide therapy, hemorrhagic cystitis hindered one patient from continuing with the medication. 3) After medical treatment, 14 of 17 patients improved, and 3 patients remained stable (mean follow-up ; $24.1{\pm}11.2$ months). FVC increased by $20.2{\pm}11.2%$ of predicted value and the extent of ground glass opacity on HRCT decreased significantly ($15.7{\pm}14.7%$). 4) Of the 14 patients who had stopped medication, 5 showed recurrence of NSIP and 2 became aggravated during steroid tapering. All patients with recurrence showed deterioration within one year after completion of initial treatment. Conclusion : Since idiopathic NSIP has unique clinical profiles and shows good prognosis, diagnosis different from UIP, and aggressive medical treatment are needed.