TWNK Gene Associated Perrault Syndrome Patient with Neurological Features

Perrault syndrome 5 is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing loss and ovarian dysgenesis in females with diversity of neurologic deficits due to variants of twinkle mtDNA helicase (TWNK) gene. Since neurologic deficits develop gradually, patient is often misdiagnosed with other neurological disease during early age. Herein, we report a case of genetically diagnosed Perrault syndrome 5.

Efficient Production of Murine Uterine Damage Model

BACKGROUND: Thin or damaged endometrium causes uterine factor-derived infertility resulting in a failure of embryonic implantation. Regeneration of endometrium is a major issue in gynecology and reproductive medicine. Various types of cells and scaffolds were studied to establish an effective therapeutic strategy. For this type of investigations, production of optimal animal models is indispensable. In this study, we tried to establish various murine uterine damage models and compared their features. METHODS: Three to ten-week-old C57BL/6 female mice were anesthetized using isoflurane. Chemical and mechanical methods using ethanol (EtOH) at 70 or 100% and copper scraper were compared to determine the most efficient condition. Damage of uterine tissue was induced either by vaginal or dorsal surgical approach. After 7-10 days, gross and microscopic morphology, safety and efficiency were compared among the groups. RESULTS: Both chemical and mechanical methods resulted in thinner endometrium and reduced number of glands. Gross morphology assessment revealed that the damaged regions of uteri showed various shapes including shrinkage or cystic dilatation of uterine horns. The duration of anesthesia significantly affected recovery after procedure. Uterine damage was most effectively induced by dorsal approach using 100% EtOH treatment compared to mechanical methods. CONCLUSION: Taken together, murine uterine damage models were most successfully established by chemical treatment. This production protocols could be applied further to larger animals such as non-human primate.

Comparison of Choroidal Thickness in Patients with Diabetes by Spectral-domain Optical Coherence Tomography

PURPOSE: To evaluate choroidal thickness in diabetes patients using spectral-domain optical coherence tomography. METHODS: We examined 203 eyes of 203 diabetic participants and 48 eyes of 48 healthy controls. The choroidal thickness at the foveal lesion was measured by enhanced-depth imaging optical coherence tomography. The participants were grouped according to diabetic retinopathy grade: no diabetic change, mild-to-moderate or severe non-proliferative, or proliferative diabetic retinopathy. The study parameters included history, age, axial length, intraocular pressure, central retinal thickness, fasting glucose, and blood pressure. RESULTS: The subfoveal choroidal thickness was thinner in eyes with non-proliferative or proliferative diabetic retinopathy than in normal eyes (p < 0.01). However, there was no difference between eyes with non-proliferative and proliferative diabetic retinopathy or between eyes with no diabetic change and the controls. Eyes exhibiting macular edema showed no significant difference in choroidal thickness compared with eyes having normal macular contours. CONCLUSIONS: The central choroid is thinner when eyes show diabetic changes on the retina. However, the presence of diabetic macular edema or proliferative change is not associated with more pronounced choroidal thinning.

Clinical Course Following Intravitreal Bevacizumab Injection in Posterior Placoid Chorioretinitis

PURPOSE: To report the clinical course with optical coherence tomography findings following intravitreal bevacizumab injection in patients with posterior placoid chorioretinitis due to latent syphilis. CASE SUMMARY: A 43-year-old woman presented with visual dimness in the right eye 3 days in duration. Fundus examination showed yellow, placoid lesions in the right eye and there was no cell reaction in the anterior chamber and vitreous. An intravitreal bevacizumab injection was given and systemic work-up performed. After 1 week, the macular lesion disappeared. However, photoreceptor disarrangement was present on spectral-domain optical coherence tomography image. On serologic test, the Venereal Disease Research Laboratory test, and fluorescent treponemal antigen absorption test were positive. She was referred to a division of infectious diseases and confirmed as latent syphilis. The patient received intramuscular penicillin 3 times weekly. Visual acuity and outer retinal abnormality further improved and there was no recurrence during the 6-month follow-up. CONCLUSIONS: Intravitreal bevacizumab injection added to antibiotic treatment may be considered for treating patients with posterior placoid chorioretinitis. Further studies are necessary to evaluate precise disease mechanisms and treatment.

Tear Filim Changes and Ocular Surface Characteristics in Patients with Psoriasis Vulgaris / 대한피부과학회지

BACKGROUND: Psoriasis is associated with several extracutaneous manifestations. Signs and symptoms of eye may be subtle and overlooked. OBJECTIVE: Our purpose was to identify tear film functions and ocular surface characteristics associated psoriasis. METHODS: We examined 20 patients with psoriasis and 20 patients healthy volunteers. In addition to complete dermatological examination, tear film function, meibomian gland obstruction, Shirmer test, as well as conjunctival impression cytology grades and goblet cell density. RESULTS: Patients with psoriasis had tear film break-up time of 7.7+/-3.1 seconds. The grade of fluorescein test in patients with psoriasis was significantly higher than the grades in controls. And in impression cytology patients group showed the higher grade of epithelial metaplasia and lower density of goblet cells. But The significant differences were not found in Shirmer test and meibomian gland obstruction. CONCLUSION: Our findings showed that patients with psoriasis have high rate of dye eye disease. Dermatologists consider the possibility of ocular manifestations of patients with psoriasis and consultation with the ophthalmologists.

Tear Filim Changes and Ocular Surface Characteristics in Patients with Psoriasis Vulgaris / 대한피부과학회지

BACKGROUND: Psoriasis is associated with several extracutaneous manifestations. Signs and symptoms of eye may be subtle and overlooked. OBJECTIVE: Our purpose was to identify tear film functions and ocular surface characteristics associated psoriasis. METHODS: We examined 20 patients with psoriasis and 20 patients healthy volunteers. In addition to complete dermatological examination, tear film function, meibomian gland obstruction, Shirmer test, as well as conjunctival impression cytology grades and goblet cell density. RESULTS: Patients with psoriasis had tear film break-up time of 7.7+/-3.1 seconds. The grade of fluorescein test in patients with psoriasis was significantly higher than the grades in controls. And in impression cytology patients group showed the higher grade of epithelial metaplasia and lower density of goblet cells. But The significant differences were not found in Shirmer test and meibomian gland obstruction. CONCLUSION: Our findings showed that patients with psoriasis have high rate of dye eye disease. Dermatologists consider the possibility of ocular manifestations of patients with psoriasis and consultation with the ophthalmologists.

Surgical Outcomes for Primary Rhegmatogenous Retinal Detachments in Patients with Pseudophakia after Phacoemulsification

PURPOSE: To evaluate the clinical features and surgical outcomes for primary rhegmatogenous retinal detachments (RDs) in patients with pseudophakia after phacoemulsification. METHODS: The medical records of patients with pseudophakia after phacoemulsification and intraocular lens implantation who had undergone surgery for primary rhegmatogenous RDs with a minimum duration of follow-up of 12 months were reviewed retrospectively. RESULTS: A total of 104 patients were enrolled in this study and 106 eyes were analyzed. Post-operative retinal attachment was achieved in 87 of the eyes (82.1%) and the final visual acuities (logarithm of the minimum angle of resolution) were improved to 0.65 +/- 0.49 from the baseline measurement of 1.51 +/- 1.14 (p < 0.001). Re-operations were performed in 24 of the eyes (22.6%) and there were no visible retinal breaks in 30 of the eyes (28.3%). The failure to identify a retinal break during surgery was associated with a lower rate of retinal reattachment, worse final visual acuity, and a higher rate of re-operation (p = 0.002, p = 0.02, and p = 0.002, respectively). The location of the identified retinal break was more common in the superotemporal quadrant than in the other quadrants. CONCLUSIONS: The inability to identify a retinal break during surgery was associated with a poor final outcome. Other factors were less important for the functional and anatomic success in patients with pseudophakic RDs.

Intravitreal Bevacizumab (Avastin) as an Adjuvant for the Treatment of Posterior Scleritis

We report a case of posterior scleritis effectively managed with intravitreal bevacizumab. A 71-year-old woman was diagnosed with posterior scleritis. Although she was initially treated with systemic steroids, her clinical presentation deteriorated. She was then treated with a single intravitreal injection of bevacizumab and aqueous humor collection. The aqueous level of vascular endothelial growth factor prior to the intravitreal injection was 880.51 pg/mL, greater than that in the healthy control group (p < 0.001). One month later, the scleritis was completely resolved, and the patient remained stable during six months of follow-up. Intravitreal bevacizumab appears to be an effective adjuvant therapy for patients with posterior scleritis.

Clinical Features of Retinopathy in Chronic Hepatitis B Patients With Treated With Peginterferon

PURPOSE: To evaluate the clinical features of retinopathy in chronic hepatitis B patients treated with peginterferon. METHODS: Chronic hepatitis B patients treated with peginterferon were evaluated during regular routine ophthalmic examinations including fundus examination before and during the 1-year follow-up after treatment. A total of 88 patients were included in the study. RESULTS: Retinopathy developed in 11 (12.5%) out of 88 patients at a mean of 7 weeks after initiation of treatment. Peginterferon treatment was continued in all patients and retinal abnormalities including cotton wool spot, retinal hemorrhage and microaneurysm resolved without visual impairment. The incidence of hypertension between the retinopathy group and the group without retinopathy was significantly different (P = 0.020). CONCLUSIONS: The incidence of retinopathy with peginterferon in chronic hepatitis B patients was low and the prognosis was benign. Thus, routine screening for peginterferon retinopathy is not necessary.

Intravitreal Bevacizumab for Treatment of Macular Edema Secondary to Hemicentral Retinal Venous Occlusion and Concentrations of Cytokine in Aqueous Humor

PURPOSE: To evaluate the effects of intravitreal bevacizumab and to investigate the concentrations of cytokine in the aqueous humors of patients with macular edema secondary to hemicentral retinal venous occlusion. METHODS: Fifteen eyes of 15 patients with macular edema secondary to hemicentral retinal venous occlusion received intravitreal bevacizumab injections and completed 12 months of follow-up. Cytokine levels were measured in the aqueous humors of these patients using a multiplex bead assay and the levels were compared with those of the controls. RESULTS: During 12 months of follow-up, a mean of 4.5 intravitreal bevacizumab injections were performed. The visual acuity and the central macular thickness improved significantly (p = 0.028, p = 0.000) after treatment. The levels of interleukin-6, vascular endothelial growth factor, and monocyte chemoattractant protein-1 were increased in the aqueous humor compared with the levels in the control group (p = 0.010, p = 0.045, p < 0.001). CONCLUSIONS: Elevated cytokine levels were identified in the aqueous humor after hemicentral retinal venous occlusion. Intravitreal bevacizumab injections were effective for improvements in visual acuity and macular edema due to hemicentral retinal venous occlusion.

An Eyelash-induced Lacrimal Gland Stone

PURPOSE: To report a case of lacrimal gland stone initiated by an eyelash. CASE SUMMARY: A 31-year-old woman presented with foreign body sensation, pain, and conjunctival injection in the lateral palpebral conjunctiva of her right eye over 6 months in duration. The physical examination revealed a small, firm nodule at the lateral canthal area. The excisional biopsy was performed, and the mass was a concretion that contained an eyelash in the center. During one-year follow-up, the patient showed no signs of recurrence or complication after excision. CONCLUSIONS: Although rare in occurence, eyelashes may be the initial nidus for lacrimal gland stone formation.

The Effect of Intravitreal Bevacizumab in Patients with Acute Central Serous Chorioretinopathy

PURPOSE: To evaluate the effect of intravitreal bevacizumab injection (IVBI) in acute central serous chorioretinopathy (CSC) patients. METHODS: Patients with acute CSC received IVBI (1.25 mg/0.05 mL) or observation by randomization. Twelve eyes in each group completed 6 months of regular follow-up and were ultimately included in this study. Each patient was assessed using best corrected visual acuity measurements, fluorescein angiography, and optical coherence tomography at baseline and had regular follow-ups after treatment. RESULTS: All patients showed improvements in visual acuity and fluorescein angiographic leakage and had resolution of their neurosensory detachment following treatment. There were no significant differences in visual acuity, central retinal thickness, or remission duration between the IVBI group and the control group at baseline or after treatment (p>0.05). CONCLUSIONS: Intravitreal bevacizumab showed no positive effect in acute CSC patients compared to the observation group, and there were no adverse effects of treatment. Further investigation will be helpful to understand this therapy in patients with CSC.

Vitrectomy-Assisted Intravitreal Tissue Plasminogen Activator and SF6 Gas Injection on Submacular Hemorrhage

PURPOSE: To evaluate the results of vitrectomy-assisted intravitreal tissue plasminogen activator (tPA) and SF6 gas injection in the treatment of submacular hemorrhage. METHODS: Thirty-one eyes of 30 consecutive patients with submacular hemorrhages undergoing vitrectomy with intravitreal tPA (50 microg/0.1 ml) and SF6 gas injection and completed 12 months of follow-up were evaluated. RESULTS: The mean duration of visual symptoms was 4.1 days. Submacular blood was completely displaced in all 31 eyes after surgery. The best corrected visual acuity (logMAR) improved to 0.56 +/- 0.46 at 12 months from 1.15 +/- 0.51 at baseline (P = 0.002). The most important factors related to visual acuity at the 12-month follow-up were the underlying etiology for the submacular hemorrhage and visual acuity 3 months after surgery (P = 0.003 and P = 0.000, respectively). The 12-month visual acuity was independent of age, gender, presence of vitreous hemorrhage, sub-ILM hemorrhage, baseline visual acuity, duration of symptoms, and the diameter of the submacular hemorrhage. No retinal detachment or re-submacular hemorrhage developed during the follow-up period. CONCLUSIONS: This surgical technique can effectively displace submacular hemorrhage without complications. The 3-month visual acuity appears to predict the 12-month visual acuity. The final visual acuity was associated with the primary etiology for the submacular hemorrhage.

Pegylated Interferon Associated Retinopathy in Chronic Hepatitis Patients

PURPOSE: To investigate clinical features of pegylated interferon-associated retinopathy in chronic hepatitis patients. METHODS: The present study was a consecutive case series of 46 patients who were treated with pegylated interferon for chronic hepatitis C or B from October 2007 to September 2008 in our hospital. The patients had a regular ophthalmologic examination every 3 weeks for 6 months after treatment. RESULTS: Out of 46 patients, 10 patients (21.73%) developed retinal abnormality. Pegylated interferon-associated retinopathy occurred at 7.25+/-10.28 weeks after the treatment with cotton-wool spots and retinal hemorrhage. All cases except one mild nonproliferative diabetic retinopathy case presenting broad perimacular non-perfusion recovered without cessation of the treatment. CONCLUSIONS: Pegylated interferon-associated retinopathy in chronic hepatitis patients was reversible and had a recovery without visual complication. However, a single case did present with irreversible visual impairment. Pegylated interferon-associated retinopathy is usually asymptomatic and clinicians should observe patients closely for 3 months after treatment.

Intravitreal Tissue Plasminogen Activator with C3F8 Injection in Branch Retinal Vein Occlusion

PURPOSE: To evaluate the efficacy of intravitreal tissue plasminogen activator (tPA) with C3F8 injection for branch retinal vein occlusion (BRVO) involving fovea. METHODS: Seven patients (7 eyes) presenting with subfoveal hemorrhage caused by BRVO were treated with an intravitreal tPA and C3F8 injection. We assessed the visual acuity (VA) and foveal thickness measured with optical coherence tomography. RESULTS: The mean duration of symptoms before surgery was 5.42+/-1.90 weeks. The mean logMAR VA improved from 1.14+/-0.19 at baseline to 0.87+/-0.34 at one week and 0.30+/-0.32 at six months. The mean foveal thickness decreased from 564.421+/-186.88 micrometer at baseline to 483.14+/-275.06 micrometer at one week and 353.28+/-152.99 micrometer at six months. There was no adverse effect related to the treatment. CONCLUSIONS: Intravitreal tPA with C3F8 injection may be an effective treatment for resolving macular edema with subfoveal hemorrhage and improving the VA in recently developed BRVO.

Subcutaneous Fat Necrosis of the Lower Eyelid Associated with Anemia

PURPOSE: Subcutaneous fat necrosis is rare. To our knowledge, there is no report of subcutaneous fat necrosis on the lower eyelid. We report a case of subcutaneous fat necrosis of the lower eyelid related to anemia. CASE SUMMARY: A 52-year-old female patient presented with palpable masses in both lower eyelids that had persisted for the past year. The thin, shallow, plaque-like mass with a well-demarcated border was palpated on the subcutaneous tissue of both lower eyelids. There was no tenderness or signs of inflammation. histopathologically, there were variously sized fat vacuoles with mild cellular infiltration. The mass was determined to be caused by subcutaneous fat necrosis. The patient had no unusual past history except a total gastrectomy 2 years previously. We performed a blood test and detected chronic anemia. CONCLUSIONS: We report a case of chronic subcutaneous fat necrosis related to anemia. When clinicians detect the subcutaneous fat necrosis, a work-up on hematological factors affecting lipid metabolism should be performed.

Degree of Psychiatric Body Dysmorphic Concern in Strabismus Patients

PURPOSE: To compare the psychiatric body dysmorphic concern of strabismus patients over 10 years old with a control group. METHODS: Fifty strabismus patients over 10 years-old and fifty non-strabismic control patients over 10 years-old were asked to answer a questionnaire of the body dysmorphic disorder examination-self report. RESULTS: Total score and scores of the distressing factor, the self consciousness factor, the avoidance factor and the comparison factor were statistically higher than those of control group. Strabismus patients were 3.52 times more likely to meet the DSM-IV diagnostic criteria. Comparison between constant strabismus patients and intermittent strabismus patients didn't show statistically significant differences, that is, intermittent strabismus patients also had equal degree of dysmorphic concern. CONCLUSIONS: This results show that strabismus patients have relatively high rates of psychiatric dysmorphic concern.

A Case of Fungall Ball after External Dacryocystorhinostomy

PURPOSE: We report a case of fungal ball after dacryocystorhinostomy in a 72-year-old female patient. METHODS: A 72-year-old female patient was admitted to our hospital for a tearing on the right eye and underwent external dacryocystorhinostomy. The patient revisited our clinic with a mass originating from her mouth several hours after surgery. The mass was irregularly shaped, brownish, and fragile with a foul odor. An aspergillosis fungal ball was diagnosed pathologically. RESULTS: Postoperative PNS CT showed no residual fungall ball. During 9 months of follow-up, the patient showed good nasolacrimal duct passage. There was no evidence of fungal infection on nasal endoscopic finding. CONCLUSIONS: To our knowledge, this is the first report of a fungal ball spontaneously occurring after dacryocystorhinostomy. Although this scarcely develops, it should be included in the differential diagnosis of a mass after dacryocystorhinostomy.

Primary Rhabdomyosarcoma of the Lacrimal Sac in a 68-year-old Woman

PURPOSE: Rhabdomyosarcoma of the lacrimal sac is extremely rare. There has only been one case in this country, during the 30s, and to our knowledge, there are no reports of primary rhabdomyosarcoma on the lacrimal sac. We report a case of primary rhabdomyosarcoma of the lacrimal sac in a 68-year-old woman METHODS: A 68-year-old female patient presented with tearing of the right eye. A lacrimal sac mass extending to the proximal nasolacrimal duct was detected during the dacryocystorhinostomy, and incisional biopsy was performed. Histopathology revealed a rhabdomyosarcoma of the right lacrimal sac. After systemic chemotherapy, complete excision of the tumor through the medial maxilla was performed. RESULTS: The pathologic diagnosis of the excised mass was embryonal type rhabdomyosarcoma. There was no evidence of tumor recurrence in the lacrimal sac or paranasal sinus during 9 months of follow-up. CONCLUSIONS: Although rhabdomyosarcoma is very uncommon, this case provides the rationale for including it in differential diagnosis of a mass in lacrimal sac.