1.A Case of Posterior Involvement of Eye in Leprosy Patient.
Kwang Bum KIM ; Joong Ha YOO ; Beak Ran SONG ; Young Chae CHU
Journal of the Korean Ophthalmological Society 1992;33(8):800-803
Leprosy is a chronic systemic disease with ocular complications including lagophthalmos, uveal diseases, and corneal diseases. Blindness may result unless appropriate treatment is done. The authors report the ocular leprosy with generalized systemic nodules associated with severe proptosis, corneal opacity and retinal pathology.
Blindness
;
Corneal Diseases
;
Corneal Opacity
;
Exophthalmos
;
Humans
;
Leprosy*
;
Pathology
;
Retinaldehyde
;
Uveal Diseases
2.A Case of Posterior Involvement of Eye in Leprosy Patient.
Kwang Bum KIM ; Joong Ha YOO ; Beak Ran SONG ; Young Chae CHU
Journal of the Korean Ophthalmological Society 1993;34(8):800-803
Leprosy is a chronic systemic disease with ocular complications including lagophthalmos, uveal diseases, and corneal diseases. Blindness may result unless appropriate treatment is done. The authors report the ocular leprosy with generalized systemic nodules associated with severe proptosis, corneal opacity and retinal pathology.
Blindness
;
Corneal Diseases
;
Corneal Opacity
;
Exophthalmos
;
Humans
;
Leprosy*
;
Pathology
;
Retinaldehyde
;
Uveal Diseases
3.Adult nasal metal foreign bodies: 2 cases report.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2015;29(9):856-858
To analysis the data of 2 patients who had nasal metal foreign bodies after the pressure cooker explosion, the main clinical symptoms include head facial swelling after trauma, nose bleeding, or vision loss, etc. Specialized examination: facial swelling, the left eye content of one patient has been removed, the other patient's right side of the nasal dorsal skin was missing, which diameter was about 1.5 cm, and nasal cavity was interlinked. We could see that metal foreign bodies blocked the bilateral nasal cavity of the two patients. And emergency CT examination showed that most of the nasal cavity reserved for high-density foreign body. Two patients were diagnosed: (1) metal foreign bodies after nasal trauma; (2) nose bleeding.
Adult
;
Blindness
;
Epistaxis
;
Facial Injuries
;
Foreign Bodies
;
diagnosis
;
Head
;
Humans
;
Metals
;
Nasal Cavity
;
pathology
;
Occupational Injuries
;
pathology
4.A Case of Giant Fronto-Ethmoidal Osteoma using rib and Calvarial Bone Graft.
Nak Jin CHOI ; Jun Pyo KIM ; Sung Hee HONG ; Hee In KANG
Journal of the Korean Cleft Palate-Craniofacial Association 2003;4(1):62-65
Osteoma is a slowly growing benign tumor which mainly grows on the mandible and in the paranasal sinuses of the craniofacial region. Embryological, inflammatory, and traumatic theories make up the etiological basis of osteoma, but is still unclear and yet to be studied. We can classify osteoma by morphology and pathology into eburnated, cancellous, and mixed type, of which eburnated type is relatively common. Most osteomas accompany no symptoms, so they are often discovered accidentally by a radiological examination. They never develop into a malignant form, so that periodic observation is sufficient enough for management, but when they grow and invade intraorbitally or intracranially and then compress clinically important structures, need a surgical management, because of possibility of diplopia, exophthalmos, epiphora, blindness due to optic atrophy, mucocele, brain abscess, meningitis. A 52-year-old man complaining of right eye pain, diplopia, and exophthalmos was diagnosed a 4.5x3.0x 2.0cm sized fronto-ethmoidal osteoma by means of a three dimensional computed tomography. We experienced a osteoma removal through bicoronal incision, and orbital reconstruction with both rib and calvarial bone graft, and received satisfying results after 1 year follow-up, thereby report this case with a short review of references.
Blindness
;
Brain Abscess
;
Diplopia
;
Exophthalmos
;
Eye Pain
;
Follow-Up Studies
;
Humans
;
Lacrimal Apparatus Diseases
;
Mandible
;
Meningitis
;
Middle Aged
;
Mucocele
;
Optic Atrophy
;
Orbit
;
Osteoma*
;
Paranasal Sinuses
;
Pathology
;
Ribs*
;
Transplants*
5.Temporary amaurosis with persistent visual field defect following acute blood loss.
Bong Byun KIM ; Kyung Hwan SHYN
Korean Journal of Ophthalmology 1995;9(1):47-50
Visual loss and field defects commonly occur after acute blood loss. We present a case of bilateral permanent visual field defect in a 30-year-old man after a massive hemorrhage caused by large vessel injury during a right nephrectomy. His postoperative visual acuity decreased significantly, and his visual field showed peripheral constriction and inferior altitudinal field defect in both eyes. A year and a half after the operation, visual acuity recovered to the preoperative level, but the field did not show improvement. We advance that this is a possible result of extensive injury to the occipital area, excluding the corresponding area of the macula.
Acute Disease
;
Adult
;
Blindness/*etiology
;
Blood Loss, Surgical/*physiopathology
;
Cerebral Infarction/complications/*etiology
;
Humans
;
Male
;
Nephrectomy
;
Occipital Lobe/pathology
;
Vena Cava, Inferior/injuries
;
Vision Disorders/*etiology
;
*Visual Fields
6.Clinical phenotype and genotype analysis of the family with the Usher syndrome.
Changliang LIN ; Yuan LYU ; Chuang LI ; Zhitao ZHANG ; Xinghuo FENG
Chinese Journal of Medical Genetics 2020;37(4):431-433
OBJECTIVE:
To detect potential variants in a family affected with Usher syndrome type I, and analyze its genotype-phenotype correlation.
METHODS:
Clinical data of the family was collected. Potential variants in the proband were detected by high-throughput sequencing. Suspected variants were verified by Sanger sequencing.
RESULTS:
The proband developed night blindness at 10 year old, in addition with bilateral cataract and retinal degeneration. Hearing loss occurred along with increase of age. High-throughput sequencing and Sanger sequencing revealed that she has carried compound heterozygous variants of the MYO7A gene, namely c.2694+2T>G and c.6028G>A. Her sister carried the same variants with similar clinical phenotypes. Her daughter was heterozygous for the c.6028G>A variant but was phenotypically normal.
CONCLUSION
The clinical features and genetic variants were delineated in this family with Usher syndrome type I. The results have enriched the phenotype and genotype data of the disease and provided a basis for genetic counseling.
Child
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Female
;
Genetic Variation
;
Genotype
;
Heterozygote
;
High-Throughput Nucleotide Sequencing
;
Humans
;
Mutation
;
Myosin VIIa
;
genetics
;
Night Blindness
;
etiology
;
Pedigree
;
Phenotype
;
Usher Syndromes
;
genetics
;
pathology
7.Extraskeletal Ewing's Sarcoma of the Head and Neck Presenting as Blindness.
Sung In CHO ; Yeon Hee PARK ; Jang Hyun CHO ; Baek Yeol RYOO ; Sung Hyun YANG ; Sang Min YOUN ; Jae Soo KO
The Korean Journal of Internal Medicine 2007;22(2):133-137
Extraskeletal Ewing's sarcoma is rarely found in the head and neck regions. We report an unusual case of extraskeletal Ewing's Sarcoma of the parapharynx region in a 49-year-old man who presented with blindness. MRI examination showed marked enhancement of tumor thrombosis involving the superior sagittal sinus, straight sinus, transverse sinus, sigmoid sinus, and internal jugular vein. The final diagnosis was extraskeletal Ewing's sarcoma after biopsy of the internal jugular vein thrombosis by histopathological evaluation and immunohistochemical assay. In addition, the patient was diagnosed as having adenocarcinoma of the rectum by biopsy of the rectal mass. The patient was treated with systemic chemotherapy and showed improved response with durable remission. The patient's visual acuity, however, did not improve.
Antineoplastic Agents/therapeutic use
;
*Blindness
;
Cyclophosphamide/therapeutic use
;
Doxorubicin/therapeutic use
;
Head and Neck Neoplasms/diagnosis/drug therapy/*pathology
;
Humans
;
Male
;
Middle Aged
;
Sarcoma, Ewing's/diagnosis/drug therapy/*pathology
;
Vincristine/therapeutic use
8.Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome.
Seok Joon SHIN ; Myungshin KIM ; Hyojin CHAE ; Ahlm KWON ; Yonggoo KIM ; Sung Jun KIM ; Hye Eun YOON ; Dong Wook JEKARL ; Seungok LEE
Annals of Laboratory Medicine 2015;35(1):181-184
No abstract available.
Adult
;
Alleles
;
Asian Continental Ancestry Group/*genetics
;
Bardet-Biedl Syndrome/diagnosis/*genetics
;
Base Sequence
;
Blindness/pathology
;
DNA/chemistry/metabolism
;
Exons
;
*Heterozygote
;
Humans
;
Macular Degeneration/diagnosis
;
Male
;
*Mutation
;
Pedigree
;
Phenotype
;
Polymorphism, Single Nucleotide
;
Proteins/*genetics
;
Republic of Korea
9.Diffuse Unilateral Subacute Neuroretinitis in a Healthy Korean Male: The First Case Report in Korea.
Hae Min KANG ; Christopher Seungkyu LEE
Journal of Korean Medical Science 2015;30(3):346-349
A 52-yr-old male was referred for progressive visual loss in the left eye. The decimal best-corrected visual acuity (BCVA) was 0.01. Fundus examination revealed diffuse retinal pigment epithelial degeneration, focal yellow-white, infiltrative subretinal lesion with fuzzy border and a live nematode within the retina. Diffuse unilateral subacute neuroretinitis (DUSN) was diagnosed and the direct laser photocoagulation was performed to destroy the live nematode. During eight months after treatment, BCVA gradually improved to 0.2 along with the gradual restoration of outer retinal layers on SD-OCT. We report on the first case of DUSN in Korea. DUSN should be included in the differential diagnosis of unexplained unilateral visual loss in otherwise healthy subjects.
Animals
;
Blindness/diagnosis/parasitology
;
Eye Infections, Parasitic/diagnosis/parasitology/*therapy
;
Fundus Oculi
;
Humans
;
Laser Therapy/methods
;
Light Coagulation/methods
;
Male
;
Middle Aged
;
Nematoda/*pathogenicity
;
Republic of Korea
;
Retinal Pigment Epithelium/*parasitology/pathology
;
Retinitis/diagnosis/*parasitology/*therapy
;
Visual Acuity
10.Diffuse Unilateral Subacute Neuroretinitis in a Healthy Korean Male: The First Case Report in Korea.
Hae Min KANG ; Christopher Seungkyu LEE
Journal of Korean Medical Science 2015;30(3):346-349
A 52-yr-old male was referred for progressive visual loss in the left eye. The decimal best-corrected visual acuity (BCVA) was 0.01. Fundus examination revealed diffuse retinal pigment epithelial degeneration, focal yellow-white, infiltrative subretinal lesion with fuzzy border and a live nematode within the retina. Diffuse unilateral subacute neuroretinitis (DUSN) was diagnosed and the direct laser photocoagulation was performed to destroy the live nematode. During eight months after treatment, BCVA gradually improved to 0.2 along with the gradual restoration of outer retinal layers on SD-OCT. We report on the first case of DUSN in Korea. DUSN should be included in the differential diagnosis of unexplained unilateral visual loss in otherwise healthy subjects.
Animals
;
Blindness/diagnosis/parasitology
;
Eye Infections, Parasitic/diagnosis/parasitology/*therapy
;
Fundus Oculi
;
Humans
;
Laser Therapy/methods
;
Light Coagulation/methods
;
Male
;
Middle Aged
;
Nematoda/*pathogenicity
;
Republic of Korea
;
Retinal Pigment Epithelium/*parasitology/pathology
;
Retinitis/diagnosis/*parasitology/*therapy
;
Visual Acuity