Menkes disease is an X-linked recessively inherited neurodegenerative disorder of copper metabolism leading to death in early childhood. This disease is characterized by low serum, liver and brain Cu levels, whereas the Cu content in nearly all other organs is increased. The main clinical features are irregular kinky hair, characteristic face, progresssive degeneration of the central nervous system, bone changes, arterial rupture and thrombosis, and instability of temperature. We have experienced a case of Menkes disease in a eight months old male patient, who manifested by seizure, developmental delay, hypotonia, characteristic hair and face along with low levels of serum copper and ceruloplasmin. We report the characteristic findings of cranial MRI and MR angiography in this Menke's patient. In cranial MRI, he showed progressive brain atrophy with subdural hemorrhage and effusion. MR angiography revealed tortuosity of vessels clearly obviating necessity of more invasive conventional arteriography in diagnosis of this disease. This study suggested that cranial MRI and especially MR angiography might be helpful in making early diagnosis of this disease.
Angiography ; Atrophy ; Brain ; Central Nervous System ; Ceruloplasmin ; Copper ; Diagnosis ; Early Diagnosis ; Hair ; Hematoma, Subdural ; Humans ; Liver ; Magnetic Resonance Imaging ; Male ; Menkes Kinky Hair Syndrome ; Metabolism ; Muscle Hypotonia ; Neurodegenerative Diseases ; Rupture ; Seizures ; Thrombosis

No abstract available.
Granulomatous Disease, Chronic* ; Trimethoprim-Sulfamethoxazole Combination

PURPOSE: To classify Avellino corneal dystrophy (ACD) into 3 groups by slit lamp photography and to evaluate the inter-group differences. METHODS: DNA analysis was performed in one member from each of 45 families who were clinically diagnosed as ACD. Corneal opacities were classified into mild (group I), moderate (group II), and severe (group III) based on slit lamp photograph. RESULTS: Six patients were confirmed as homozygous ACD and ninety-two as heterozygous ACD. One homozygous patient was revealed to have a novel phenotype. The age increased with increasing severity, and the proportion of females in group III was significantly higher than that of the other two groups (p=0.001). The prevalence of laser in situ keratomileusis (LASIK) increased in group III (p=0.001), and the incidence of pterygium increased in group I compared with the other two groups (p=0.025). CONCLUSIONS: ACD was aggravated with age, while pterygium and LASIK altered the natural course of ACD.
Classification* ; Corneal Opacity ; DNA ; Female ; Humans ; Incidence ; Keratomileusis, Laser In Situ ; Phenotype ; Photography ; Prevalence ; Pterygium

PURPOSE: To report a case of a patient who underwent penetrating keratoplasty due to acute hydrops six years after undergoing a bilateral LASIK procedure. METHODS: A 19-year old male patient with -2.75 diopter myopia received a bilateral LASIK operation at a local clinic. Forty-seven months later, -2.00 cyl axis 130o astigmatism was induced in his left eye and additional surgery was performed to correct the LASIK-induced astigmatism. The patient was referred to our hospital 16 months after the secondary operation due to reduced visual acuity in his left eye. He was diagnosed with keratectasia and acute hydrops, and penetrating keratoplasty was performed. RESULTS: The retrospective analysis of the corneal topography prior to the LASIK surgery revealed that the inferior minus superior(I-S) value was 1.25 in the right eye and 1.3 in the left eye. At the time of the first evaluation at out hospital, a slit lamp examination showed an approximate 8 x 7.5mm sized area filled with aqueous humor between the corneal flap and residual stroma, and Descemet's membrane rupture was observed. Furthermore, the histopathological section of the patient's cornea confirmed keratocytes with myxoid degeneration and edematous change. CONCLUSIONS: In young patient, particularly those with suspicious asymptomatic keratoconus, LASIK and further enhancement surgery afterwards should be considered and approached in a cautious and deliberate manner.
Male ; Humans

Purpose: To compare the visual outcomes and corneal aberrations between wavefront-optimized (WFO) and corneal wavefront-guided (WFG) photorefractive keratectomy (PRK) in low to moderate myopia. Methods: Twenty-seven eyes treated with WFO and 29 eyes treated with WFG PRK using a Schwind Amaris 750S Excimer laser were included after 6 months of postoperative follow-up. Uncorrected distance visual acuity, corrected distance visual acuity, refractive errors, corneal higher-order aberrations (HOA) and corneal thickness obtained using a Scheimpflug system, and central ablation depth and volume were evaluated during the preoperative period and again at the postoperative 6-month visits. Results: Postoperatively, uncorrected distance visual acuity, corrected distance visual acuity, manifest spherical equivalent, and refractive astigmatism were improved in both groups, and there was no statistically significant difference between the two groups. There was no significant difference in safety, efficacy, or predictability of the refractive outcome. Postoperative total corneal HOA root mean square (RMS), coma RMS, and spherical aberration were significantly increased in both groups. Among these, only spherical aberration showed a significant difference between the two groups, with greater increase in the WFO group at 6 months postoperatively. The changes in corneal HOA RMS and spherical aberration were smaller in the WFG group, and this benefit was marked in eyes with high HOA RMS (≥0.4 μm) and spherical aberration (≥0.2 μm). Even though ablation volume in the WFG group was much larger than that of the WFO group, there was no significant difference in postoperative central and peripheral corneal thickness between the two groups. Conclusions Both WFO and WFG PRK using a Schwind Amaris 750S laser for low to moderate myopia were safe and effective at improving visual and refractive outcomes. However, WFG PRK induced fewer spherical aberrations than WFO PRK and may be more advantageous for eyes with high HOA root mean square or spherical aberration.

Adenocarcinoma of small intestine is rare disease, but its incidence of iluem is the least of small intestinal adenocarcinoma. Its rarity and vague symptoms results in delayed diagnosis, treatment and poor prognosis, Recently we experienced a 65 years old man of ileal adenocarcinoma with liver metastasis, which does not obstuct intestinal lumen, We treat the metastatic tumor with chemoembolization(lipiodol and doxorubicin) through the hepatic artery and so we report the case with review of literature.
Adenocarcinoma ; Aged ; Delayed Diagnosis ; Hepatic Artery ; Humans ; Incidence ; Intestine, Small ; Liver ; Neoplasm Metastasis* ; Prognosis ; Rare Diseases

PURPOSE: In this study evaluated clinical outcomes and higher-order aberrations in patients with implanted Tecnis ZCT toric intraocular lens (IOL) (Abbott Medical Optics Inc., Santa Ana, CA, USA) and the Zeiss AT TORBI toric IOL (Carl Zeiss Meditec AG, Jena, Germany) in eyes with low to moderate corneal astigmatism. METHODS: We conducted a retrospective study of 32 consecutive eyes of 26 patients with a visually significant cataract and moderate corneal astigmatism (higher than 1.25 diopter [D] and lower than 4.5 D) undergoing cataract surgery with implantation of the aspheric Tecnis ZCT toric IOL (Abbott Medical Optics Inc.) and the Zeiss AT TORBI toric IOL (Carl Zeiss Meditec AG). Phacoemulsification was performed by the same experienced surgeon using 2.2 mm temporal incision. Visual, refractive and aberrometric changes were evaluated during a 3-month follow-up. Power vector analysis of Cartesian astigmatism (J0) and oblique astigmatism (J45) was performed. RESULTS: At the 3-month follow-up, corrected distance visual acuity (CDVA) and residual astigmatism showed no statistically significant differences between groups (p = 0.203 and p = 0.364, respectively). Pre- and postoperative J0 were 0.71 +/- 0.84 and 0.05 +/- 0.39 in the Tecnis Toric group and, 0.88 +/- 1.27 and -0.02 +/- 0.16 in the AT TORBI group, respectively, which showed statistically significant differences (p = 0.029 and p = 0.032, respectively). Pre- and post-operative differences of J0 and J45 were not statistically significant (p = 0.234 and p = 0.603, respectively). No eye had IOL rotation > or =10degrees. Ocular aberrometry values were statistically significantly differenct between the groups, except for spherical aberration, which was higher in the AT TORBI group (p = 0.0047). CONCLUSIONS: Both IOLs showed good postoperative uncorrected distance visual acuity, CDVA and refractive results in this study. Rotational stability was excellent for both IOLs until the 3-month follow-up.
Aberrometry ; Astigmatism ; Cataract ; Follow-Up Studies ; Humans ; Lenses, Intraocular* ; Phacoemulsification ; Retrospective Studies ; Visual Acuity

PURPOSE: We compared the ocular aberration and clinical outcome between different aspheric intraocular lenses (IOL) in both eyes. METHODS: This prospective randomized controlled study was comprised of patients with bilateral cataract who received two different aspheric IOLs implanted in both eyes: negatively aspheric Tecnis® ZCB00 and spherically neutral Akreos® MI60. Total and corneal aberrations computed by Wavescan® and Pentacam® were assessed at 6 months to investigate the effects of the IOL's spherical aberration on the eye and to analyze the incidence and degree of posterior capsule opacification. By using spherical aberration of the cornea and the IOLs, values calculated via Ray-tracing software and Wavescan® were compared. Total spherical aberration was analyzed by the MATLAB program and converting the pupil size to 6.0, 4.5, 3.0 mm. RESULTS: A total of 25 patients were included. Regarding pre-operative corneal aberration, ZCB00 group was 0.232 ± 0.119 µm while MI60 group was 0.240 ± 0.117 µm, and there was no difference between the two IOLs. At 6 months after total ocular spherical aberration, MI60 group (pupil size 6.0 mm; 0.296 ± 0.097 µm, 4.5 mm; 0.094 ± 0.032 µm, 3.0 mm; 0.019 ± 0.006 µm) had more positive values than ZCB00 group (pupil size 6.0 mm; 0.051 ± 0.105 µm, 4.5 mm; 0.009 ± 0.034 µm, 3.0 mm; 0.002 ± 0.007 µm) (p < 0.001). When calculated using the ray tracing method, based on the results after surgery, MI60 group's total spherical aberrations were higher than ZCB00 group. However, from 1 month to 6 months after surgery, the uncorrected distance visual acuity, spherical equivalent and posterior capsule opacification showed no differences between the two IOLs. CONCLUSIONS: In eyes with aspheric IOLs with negative spherical aberration, spherical aberration was lower than spherically neutral aspheric IOLs. Regarding postoperative visual acuity, spherical equivalent and posterior capsule opacification, there were no significant differences between the two groups.
Capsule Opacification ; Cataract ; Cornea ; Humans ; Incidence ; Lenses, Intraocular* ; Methods ; Prospective Studies ; Pupil ; Visual Acuity

PURPOSE: The purpose of this study is to evaluate the efficacy of the combined treatment of anterior stromal puncture with the concurrent use of 5% NaCl eye drops for 6 months for recurrent corneal erosion syndrome. METHODS: A retrospective chart review was conducted for 21 patients (21 eyes) who underwent the combined treatment of anterior stromal puncture with 5% NaCl eye drops qid for 6 months to treat recurrent corneal erosion syndromes. The patients' age, gender, history of corneal trauma, history of ocular surgery, recurrence rate, need for additional treatments after recurrence and complication were analyzed. RESULTS: The mean age was 42.05 ± 13.83 years (19-68 years) with no significant difference in gender, and the mean follow up period was 8.48 ± 2.76 months (6-15 months). Among the 21 eyes 14 eyes (66.7%) had a previous history of corneal trauma, 2 eyes (9.52%) had previous refractive surgery, 1 eye (4.8%) had corneal dystrophy, 2 eyes (9.5%) had diabetic mellitus and 5 eyes (28.81%) had an unknown origin. Furthermore, 3 eyes (14.3%) developed recurrences and 2 eyes were resolved with conservative treatment while 1 eye needed additional anterior stroma puncture. There was no recurrence after retreatment with anterior stroma puncture. No significant complications such as infection or inflammation developed with the exception of corneal opacity in which one patient developed glare due to corneal opacity. CONCLUSIONS: The combined treatment of anterior stromal puncture with 5% NaCl eye drops for a prolonged time might be effective at preventing the recurrence of refractory recurrent corneal erosion syndrome with conservative treatments.
Corneal Injuries ; Corneal Opacity ; Follow-Up Studies ; Glare ; Humans ; Inflammation ; Ophthalmic Solutions* ; Punctures* ; Recurrence ; Refractive Surgical Procedures ; Retreatment ; Retrospective Studies

A 60-year-old man with bilateral corneal opacity underwent cataract extraction surgery involving the use of a limbal relaxing incision in his left eye. He had lower lid ectropion and lagophthalmos in both eyes. Eleven days after the surgery, a slit-lamp examination revealed a neurotrophic corneal ulcer with a punch-out epithelial defect and rolled edges at the center of the pre-existing corneal opacity. The patient was treated with sodium hyaluronate, autologous serum, and oral doxycycline. Six weeks after the surgery an improvement in corneal sensation was observed and the neurotrophic corneal ulcer subsequently healed over the course of one year. In this report, we present a case of neurotrophic keratitis that occurred after performing cataract surgery concurrent with a limbal relaxing incision. As such, we suggest that limbal relaxing incisions should be performed cautiously in patients with causative risk factors for corneal hypesthesia.
Cataract Extraction/*adverse effects/*methods ; Corneal Diseases/etiology ; Corneal Ulcer/*etiology/*pathology/physiopathology ; Humans ; Hypesthesia/etiology ; Limbus Corneae/*surgery ; Male ; Middle Aged ; Ophthalmologic Surgical Procedures/*adverse effects ; Phacoemulsification ; Wound Healing