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A Case of Klippel-Feil Syndrome combined with Duane Retraction Syndrome: Incomplete Form of Wildervanck Syndrome.

Ki Hwang LEE ; Sang Ho MOON ; Jun Bum KIM ; Jae Ho CHO ; Yoon Hee CHANG

Journal of the Korean Ophthalmological Society.2005;46(6):1084-1088.

PURPOSE: Klippel-Feil syndrome is defined as the congenital fusion of two or more cervical vertebrae. The clinical features are low posterior hair line, short neck, and limitation of the movement of the head and neck. Wildervanck syndrome, also known as cervicooculoacoustic syndrome, is a rare genetic disorder that primarily affects females. The disorder is characterized by Klippel-Feil syndrome, Duane syndrome and hearing impairment at birth, although one of these symptoms may be lacking. This report describes a case of Klippel-Feil syndrome combined with Duane retraction syndrome, which can be defined as an incomplete form of Wildervanck syndrome. METHODS: A 15-year-old girl with congenitally fused cervical vertebrae at two levels, C2-C4 vertebrae and, C5-C7 vertebrae, was diagnosed as Klippel-Feil syndrome. Ophthalmologic evaluation was needed due to abnormality in ocular motility. RESULTS: Ophthalmologic examination revealed a visual acuity of 0.9 without correction in both eyes. Slit-lamp and fundus examination were normal. Ocular motility examination showed 14 prism diopters right esotropia in primary gaze, limited abduction, globe retraction, and narrowing of the palpebral fissure on adduction of the right eye.
Adolescent ; Cervical Vertebrae ; Duane Retraction Syndrome* ; Esotropia ; Female ; Hair ; Head ; Hearing Loss ; Humans ; Klippel-Feil Syndrome* ; Neck ; Parturition ; Spine ; Visual Acuity

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Exophthalmos due to Blue Rubber Bleb Syndrome.

Tae Won KIM ; Kyu Bong JUNG ; Joo Heon ROH ; John J WOOG

Journal of the Korean Ophthalmological Society.2005;46(6):1079-1083.

PURPOSE: Blue rubber bleb syndrome (BRBNS) is a rare disorder characterized by multiple, distinctive cavernous hemangiomas of the skin, and gastrointestinal tract. We investigated the surgical treatment and clinical findings for multiple hemangiomas in the orbit of a patient who had BRBNS on the skin and liver. METHODS: A 33-year-old white woman visited our clinic with the chief complaint of continuous exophthalmos of one year duration. She did not complain of ocular pain or decreased visual acuity. Nine years previously, her medical history showed the removal of a mass from her left arm, the result of histopathologic examination was multiple hemangiomas. Check-up for gastrointestinal lesions by colonoscopy was negative and all hematological parameters were normal. The orbital mass was surgically removed. Histopathological finding showed it to be the same as hemangioma. RESULTS: Multiple bluish nodules on the skin, visceral hemangioma, multiple hemangiomas in orbit led to the diagnosis of BRBNS. CONCLUSIONS: Multiple hemangiomas in orbit should be suspected as BRBNS, and therefore systemic evaluation is required to consider the association with BRBNS.
Adult ; Arm ; Blister* ; Colonoscopy ; Diagnosis ; Exophthalmos* ; Female ; Gastrointestinal Tract ; Hemangioma ; Hemangioma, Cavernous ; Humans ; Liver ; Orbit ; Rubber* ; Skin ; Visual Acuity

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Multiple Myeloma Presented With Unilateral Ptosis: A Case Report.

Min Joung LEE ; Ho Kyung CHOUNG ; Sang In KHWARG ; Hee Jin YANG

Journal of the Korean Ophthalmological Society.2005;46(6):1073-1078.

PURPOSE: As orbital involvement in multiple myeloma is rare, the correct diagnosis is usually difficult. We report a case of multiple myeloma which involved the orbit, and which presented with unilateral ptosis. METHODS: A 35-year-old man was referred for the evaluation of ptosis of the left eyelid for 1 month. The levator function was normal, and there was no proptosis. Orbital computerized tomography (CT) revealed an orbital mass lesion involving the superior orbital ridge with intracranial extension. RESULTS: Excisional biopsy was performed through craniotomy and superior orbitotomy. Histopathologic examination and immunostaining result suggested a diagnosis of a plasmacytoma. The diagnosis of multiple myeloma was confirmed through bone marrow aspiration and biopsy showing diffuse infiltration of plasma cells. CONCLUSIONS: We experienced a case of multiple myeloma, which is rare in the orbit presenting unilateral ptosis. In addition, the possibility of orbital mass should be considered as an unusual cause of unilateral, acquired, progressive ptosis.
Adult ; Biopsy ; Bone Marrow ; Craniotomy ; Diagnosis ; Exophthalmos ; Eyelids ; Humans ; Multiple Myeloma* ; Orbit ; Plasma Cells ; Plasmacytoma

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A Case of Candida Infection after Porous Polyethylene (Medpor(R)) Orbital Implantation.

Kyung Chul YOON ; Dok Jae KIM ; Sang Gi JEONG ; Yeoung Geol PARK

Journal of the Korean Ophthalmological Society.2005;46(6):1068-1072.

PURPOSE: To report a case of candida infection after Medpor(R) orbital implantation. METHODS: A 51-year-old man was admitted complaining of painful swelling and discharge about 3 years after orbital Medpor(R) implantation. External examination revealed signs of infection and exposure of the implant. Medpor(R) was surgically removed. In laboratory studies, white colony was detected in blood agar, potato dextrose agar, and CHROMagar. Automatic identification with yeast standard test revealed Candida parapsilosis. RESULTS: Six months after surgery, the wound had healed well. In addition, cosmesis was acceptable with the artificial eye, except mild superior sulcus deformity. CONCLUSIONS: Although rare, fungal infection of the implant should be suspected when there are the long standing signs of infection and exposure after orbital Medpor(R) implantation.
Agar ; Candida* ; Congenital Abnormalities ; Eye, Artificial ; Glucose ; Humans ; Middle Aged ; Orbit* ; Orbital Implants* ; Polyethylene* ; Solanum tuberosum ; Wounds and Injuries ; Yeasts

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Characteristics of Nicotinic Receptor Expressed in Human Retinoblastoma.

Dae Ran KIM ; Seung Kyu CHA ; In Deok KONG ; Se Hwan JUNG ; Sang Hoon RAH

Journal of the Korean Ophthalmological Society.2005;46(6):1060-1067.

PURPOSE: To identify the characteristics and physiological function of the nicotinic receptor expressed in human retinoblastoma cells. METHODS: We measured possible nicotinic signaling in WERI-Rb-1 cells using the Ca2+ imaging technique and the patch clamp method. RESULTS: 1) Nicotine-induced [Ca2+]i rise arose entirely through Ca2+ influx, which was completely abolished by hexamethonium (100 micro M). 2) Nicotine also induced remarkable depolarization from -56.6 +/- 3.7 mV to -29.6 +/- 3.6 mV (n=4) under current clamp mode, but it failed to directly activate the T-type Ca2+ channel expressed in retinoblastoma cells. CONCLUSIONS: Nicotinic activation can increase the intracellular calcium level through calcium influx in the undifferentiated retinoblastoma cells, which may play important roles in cell proliferation, differentiation, and cell death.
Calcium ; Cell Death ; Cell Proliferation ; Hexamethonium ; Humans* ; Nicotine ; Receptors, Nicotinic* ; Retinoblastoma*

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Inhibitory Effect of Rapamycin on Corneal Neovascularization induced by Angiogenin in Rabbits.

Young Sam KWON ; Soo Ik CHANG ; Dong Ku KANG ; Jae Chan KIM

Journal of the Korean Ophthalmological Society.2005;46(6):1052-1059.

PURPOSE: The purpose of this study was to determine whether immunosuppressant, rapamycin could inhibit corneal angiogenesis induced by angiogenin and to evalutate its role by micropocket assay. METHODS: The rabbit's eye was implanted intrastromally into the superior cornea with pellet for the control group, pellet containing of angiogenin for the angiogenin group, and pellet containing of angiogenin and rapamycin for the angiogenin+rapamycin group. Biomicrographically, corneal angiogenesis was evaluated for 14 days after pellet implantation, based on the number and the length of new vessels. The neovascularized cornea also was examined histologically. RESULTS: We could observe that the angiogenin inducing corneal angiogenesis was inhibited by rapamycin. The score of neovascularization was significantly decreased in the angiogenin+rapamycin group than in the angiogenin group at 3, 7 and 10 days after pellet implantation (p<0.05). Histologically, the cornea of angiogenin+rapamycin group also showed much less new vessels than that of angiogenin group, in which inflammatory cells and edema was observed. CONCLUSIONS: Rapamycin appears to inhibit angiogenin induced angiogenesis in a rabbit corneal micropocket assay and may have therapeutic potential as an antiangiogenic agent.
Cornea ; Corneal Neovascularization* ; Edema ; Rabbits* ; Sirolimus*

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Effect of Collagen Gel with Growth Factor and Wrapping Materials on Fibrovascularization of Porous Orbital Implant.

Joon Young LEE ; Suk Young KIM ; Chang Kook YOU ; Moo Seok LEE ; Sang Yeul LEE ; Jung Hyub OH ; Sung Joo KIM

Journal of the Korean Ophthalmological Society.2005;46(6):1037-1051.

PURPOSE: To determine the effect of bFGF complexed collagen gel, which allows constant release of bFGF along with biodegradation of the collagen gel. The specific study purpose was to determine whether it can accelerate the fibrovascular ingrowth into wrapped HA-coated porous alumina and to verify the safety of new wrapping materials. Synthetic polyester-urethane (Neuropatch(R)) and lyophilized bovine pericardium (Lyoplant(R)) were compared to donor sclera for the fibrovascular ingrowth into HA-coated porous alumina. METHODS: The experimental and control groups, each consisting of 9 rabbits were wrapped with each wrapping materials (3 rabbits per wrapping material). The experimental group underwent pretreatment of bFGF-collagen gel while the control group did not. The fibrovascular ingrowth was compared at 2 and 4 weeks after implantation. Western blot analysis was conducted at 4 weeks using antibodies against CD141 and laminin. The rate of fibrovascular ingrowth was fastest in orbital implant wrapped with Lyoplant(R). RESULTS: Histopathologic examinations at 2 weeks showed no differences in distance and percentage area of fibrovascular ingrowth. Histopathologic examinations at 4 weeks showed that pretreatment of bFGF-collagen gel increased the fibrovascular ingrowth in the experimental group. Western blot analysis on experimental group also showed that the expressions of CD141 and laminin were increased by bFGF-collagen gel, thereby indicating that the fibrovascular proliferations were accelerated by bFGF released from the complex. CONCLUSIONS: bFGF-collagen gel increased the rate and degree of fibrovascular growth into hydroxyapatite-coated porous alumina by releasing bFGF as the collagen gel biodegraded. Both Lyoplant(R) and Neuropatch(R) were evaluated as safe for substitution of the donor sclera.
Aluminum Oxide ; Antibodies ; Blotting, Western ; Collagen* ; Humans ; Laminin ; Orbit* ; Orbital Implants* ; Pericardium ; Rabbits ; Sclera ; Tissue Donors

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Relative Afferent Pupillary Defect in Normal Subjects in 10 to 39 Years of Age.

In Bum LEE ; Byung Hun CHOI ; Yeon Seong MUN ; Jeong Min HWANG

Journal of the Korean Ophthalmological Society.2005;46(6):1034-1036.

PURPOSE: In order to investigate the incidence of relative afferent pupillary defect (RAPD) in normal adolescence and if there is any interocular difference in the case with RAPD. METHODS: Fifty-eight adolescence in 14 to 36 years of age who showed normal findings on measurement of visual acuity, intraocular pressure, slit lamp examination, and funduscopic examination except refractive errors underwent swinging flashlight test and infrared pupillography. The case with RAPD further underwent optical coherence tomography, color vision test, Humphrey visual field test, and Bryngelson test (hole-in-the-card test). RESULTS: One out of 58 cases, in whom more pronounced myopic astigmatism and lower mean deviation on Humphrey visual field test within normal limits were found, showed RAPD in the dominant right eye with swinging flashlight test and infrared pupillography. CONCLUSIONS: The incidence of RAPD in normal adolescence was 1.7%. Myopic astigmatism was higher in the eye with RAPD.
Adolescent ; Astigmatism ; Color Vision ; Humans ; Incidence ; Intraocular Pressure ; Pupil Disorders* ; Refractive Errors ; Tomography, Optical Coherence ; Visual Acuity ; Visual Field Tests

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Analysis of Corneal Topographic Optical Zone and Decentration after Myopic Refractive Surgery.

Joong Hyuk CHOI ; Hong Seok YANG ; Ho Min LEW ; Jae Hong AHN

Journal of the Korean Ophthalmological Society.2005;46(6):1027-1033.

PURPOSE: To identify factors influencing the ablation center and to evaluate the size of the ablation zone after PRK and LASIK using Technolas 217 C. METHODS: This study examined the results of refractive surgery using Technolas 217 C Excimer laser with eye tracking system in 69 eyes, of which 31 underwent PRK and 38 LASIK. The ablation zone and degree of decentration were determined through corneal topography. We divided the eyes into two groups according to the degree of decentration: less than 0.5 mm as the first group, and from 0.5 to 1.0 mm as the second. The ablation zone diameter in topography was compared with the programmed preoperative optical zone. RESULTS: The only factor influencing the ablation center in the PRK group was preoperative spherical equivalent(p=0.016), and no factor influenced the ablation zone in the LASIK group. In both groups, the long axis of the ablation zone was longer than that of the programmed optical zone(p=0.003), while the short axis was shorter (p=0.001). CONCLUSIONS: After refractive surgery using Technolas 217 C Excimer laser with eye tracking system, there was no clinically significant decentration. With greater preoperative spherical equivalent, more decentered ablation was noted in the PRK group. The topographical long axis of the ablation zone was longer than that of the programmed ablation zone, while the short axis of the ablation zone was shorter. During refractive surgery, we should be aware of the possibility that the short axis of the postoperative ablation zone may be shorter than that of the programmed preoperative optical zone.
Axis ; Corneal Topography ; Keratomileusis, Laser In Situ ; Lasers, Excimer ; Refractive Surgical Procedures*

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The Effect of Inferior Oblique Weakening Procedures on the Correction of Ocular Torsion.

Jee Hoon SIM ; Se Youp LEE

Journal of the Korean Ophthalmological Society.2005;46(6):1020-1026.

PURPOSE: To examine changes in ocular torsion after the weakening procedure for the inferior oblique muscle in patients with overaction of inferior oblique muscle (IOOA). METHODS: Twenty-eight eyes that had undergone the graded IO anteriorization combined with recession were evaluated. Twelve eyes from 11 patients had IOOA due to superior oblique muscle palsy (SOP) and 16 eyes from 9 patients had primary IOOA. Fundus photograph was taken to examine changes in torsional deviation before and after surgery. RESULTS: The average torsional deviation decreased from +17.5 +/- 7.3 degrees before surgery to +6.4 +/- 5.8 degrees after surgery, with the amount of correction being 11.1 degrees. It was corrected by 12.6, from +19.1 +/- 7.7 degrees to +6.5 +/- 4.8 degrees, in patients with SOP, and by 10 degrees, from +16.3 +/- 6.9 degrees to +6.3 +/- 6.6 degrees, in patients with IOOA (p<0.05). CONCLUSIONS: About 11o excyclotorsional correction was observed in patients with IOOA after IO anteriorization combined with recession.
Humans ; Paralysis

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