- Unilateral Peters' Anomaly with Chorioretinal Coloboma in the Other Eye
-
Cho D, Choi D, Nam W
- KMID: 1098640
- Korean J Ophthalmol.
- 2011 Oct;25(5):352-354.
- doi: 10.3341/kjo.2011.25.5.352
An 18-year-old man presented with poor vision in both eyes that had been present since birth. Central corneal opacity and inferior peripheral sclerocornea with iridocorneal adhesion were observed upon anterior... -
- CITED
-
- Close
- SHARE
-
- Close
- Anomalous Scleral Insertion of Superior Oblique in Axenfeld-Rieger Syndrome
-
Park SW, Kim HG, Heo H, Park YG
- KMID: 1115657
- Korean J Ophthalmol.
- 2009 Mar;23(1):62-64.
- doi: 10.3341/kjo.2009.23.1.62
Axenfeld-Rieger syndrome (ARS) is associated with ocular and systemic anomalies. PITX2 is known to be a major controlling gene in the pathogenesis of ARS and is associated with differentiation in... -
- CITED
-
- Close
- SHARE
-
- Close
- Bilateral Free Floating Vitreous Cysts with Posterior Embryotoxon
-
Rathore YS, Radhakrishnan OK, Chougule N, Lune A, Magdum R, Gogate P
- KMID: 2345830
- Korean J Ophthalmol.
- 2014 Dec;28(6):499-500.
- doi: 10.3341/kjo.2014.28.6.499
No abstract available. -
- CITED
-
- Close
- SHARE
-
- Close
- LONG TERM FOLLOW-UP OF MULTIPLE ODONTOGENIC KERATOCYSTS ASSOCIATED WITH BASAL CELL NEVUS SYNDROME: A CASE REPORT
-
Lee EY, Kim KW
- KMID: 2005103
- J Korean Assoc Maxillofac Plast Reconstr Surg.
- 2010 Jan;32(1):81-85.
Multiple jaw cysts are one of the most constant features of the basal cell nevus syndrome. Basal cell nevus syndrome is inherited as an autosomal dominant trait with variable expressiveness.... -
- CITED
-
- Close
- SHARE
-
- Close
- A neonate with Joubert syndrome presenting with symptoms of Horner syndrome
-
Lee N, Nam SO, Kim YM, Lee YJ
- KMID: 2362250
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S32-S36.
- doi: 10.3345/kjp.2016.59.11.S32
Joubert syndrome (JS) is characterized by the “molar tooth sign†(MTS) with cerebellar vermis agenesis, episodic hyperpnea, abnormal eye movements, and hypotonia. Ocular and oculomotor abnormalities have been observed; however,... -
- CITED
-
- Close
- SHARE
-
- Close
- A case of Primary Band Keratopathy Treated by EDTA Application in Patient with Hyperparathyroidism
-
Lee TS, Hwang JJ, Choi JH
- KMID: 2125236
- J Korean Ophthalmol Soc.
- 2002 Nov;43(11):2119-2123.
PURPOSE: We report a case of band keratopathy caused by hyperparathyroidism which was treated using EDTA (disodium ethylenediaminetetraacetic acid). METHODS: A 33-year-old woman with band keratopathy caused by hyperparathyroidism with elevated... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case Report Of Basal Cell Nevus Syndrome
-
Ryu DM, Choi BJ, Lee SC, Kim YG, Lee BS
- KMID: 1961162
- J Korean Assoc Oral Maxillofac Surg.
- 2002 Apr;28(2):136-140.
Basal cell nevus syndrome is inherited as an autosomal dominant trait with variable expressivity. This syndrome comprises a number of abnormalities such as multiple nevoid basal cell carcinomas of the... -
- CITED
-
- Close
- SHARE
-
- Close
- Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome
-
Yun JW, Cho HK, Oh SY, Ki CS, Kee C
- KMID: 1781343
- Ann Lab Med.
- 2013 Sep;33(5):360-363.
- doi: 10.3343/alm.2013.33.5.360
Axenfeld-Rieger syndrome (ARS) is characterized by anomalies of the anterior segment of the eye and systemic abnormalities. Mutations in the FOXC1 and PITX2 genes are underlying causes of ARS, but... -
- CITED
-
- Close
- SHARE
-
- Close
- Chromosome 11q13 deletion syndrome
-
Kim YS, Kim GH, Byeon JH, Eun SH, Eun BL
- KMID: 2362245
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S10-S13.
- doi: 10.3345/kjp.2016.59.11.S10
Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by... -
- CITED
-
- Close
- SHARE
-
- Close
- Joubert Syndrome Associated with Leber's Congenital Amaurosis
-
Yang HK, Yu YS, Hwang JM
- KMID: 2211746
- J Korean Ophthalmol Soc.
- 2008 Aug;49(8):1360-1363.
- doi: 10.3341/jkos.2008.49.8.1360
PURPOSE: To report a case of Joubert syndrome associated with Leber's congenital amaurosis. CASE SUMMARY: A 7-month-old boy was referred for poor eye contact and esodeviation since birth. He could not... -
- CITED
-
- Close
- SHARE
-
- Close
- Effects of Maternal Hyperthermia on the Development of C57/BL6 Strain Hsp70 Knock-out Mice Fetuses
-
Kim WK
- KMID: 2071892
- Korean J Phys Anthropol.
- 2005 Jun;18(2):105-113.
To investigate the effects of maternal hyperthermia on the formation of congenital anomalies, pregnant Hsp70 knock-out and wild type mice at gestational day (GD) 8.5 were immersed in 43degrees C... -
- CITED
-
- Close
- SHARE
-
- Close
- Hyperfamiliarity for Unknown Faces Syndrome Following Encephalitis
-
Cho SY, Yang HJ, Jang IM, Yun CH, Kim S, Park SH
- KMID: 2191531
- J Korean Neurol Assoc.
- 2012 Nov;30(4):329-332.
Hyperfamiliarity for unknown faces (HFUF) is a rare disorder in which unfamiliar faces seem familiar. We report one case of HFUF syndrome. A 34-year-old woman was admitted as encephalitis with... -
- CITED
-
- Close
- SHARE
-
- Close
- PHACE association with intracranial, oropharyngeal hemangiomas, and an atypical patent ductus arteriosus arising from the tortuous left subclavian artery in a premature infant
-
Kim DH, Choi JH, Lee JH, Kim HS
- KMID: 1433777
- Korean J Pediatr.
- 2012 Jan;55(1):29-33.
- doi: 10.3345/kjp.2012.55.1.29
PHACE association is a rare neurocutaneous condition in which facial hemangiomas associate with a spectrum of posterior fossa malformations, arterial cerebrovascular anomalies, cardiovascular anomalies, and eye anomalies. We reported a... -
- CITED
-
- Close
- SHARE
-
- Close
- Anesthetic management for a pediatric patient with joubert syndrome: A case report
-
Lee YS, Kim WY, Kim KG, Chang MS, Kim JH, Park YC
- KMID: 1782622
- Korean J Anesthesiol.
- 2009 Jul;57(1):96-99.
- doi: 10.4097/kjae.2009.57.1.96
Joubert syndrome is a rare autosomal recessive condition in which there is complete or partial agenesis of the cerebellar vermis. The clinical features are hypotonia, ataxia, mental retardation, abnormal ocular... -
- CITED
-
- Close
- SHARE
-
- Close
- Ankyloblepharon, Ectodermal Defects, and Cleft Lip and Palate Syndrome Associated with TP63 Gene Mutation
-
Song KH
- KMID: 2088187
- Korean J Dermatol.
- 2011 Mar;49(3):274-278.
Ankyloblepharon, Ectodermal defects, and Cleft lip and palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare form of ectodermal dysplasia initially described by Hay and Wells in 1976.... -
- CITED
-
- Close
- SHARE
-
- Close
- Ankyloblepharon Filiforme Adnatum : a Case Report
-
Kong MG, Lee MG, Kim JH, Lee JH, Woo KI, Kim YD
- KMID: 2216950
- J Korean Ophthalmol Soc.
- 2013 Apr;54(4):659-661.
- doi: 10.3341/jkos.2013.54.4.659
PURPOSE: To report a case of ankyloblepharon filiforme adnatum in a newborn male. CASE SUMMARY: A 4-day-old male was referred for fused right eyelids with unremarkable other pediatric examinations. Ocular examination... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Carotid Aneurysm in Familial Retinal Arterial Tortuosity
-
Seo JH, Kim I, Yu HG
- KMID: 1115655
- Korean J Ophthalmol.
- 2009 Mar;23(1):57-58.
- doi: 10.3341/kjo.2009.23.1.57
A 44-year-old woman who showed recurrent vitreous hemorrhages with vascular tortuosity received CT angiography which revealed an internal carotid artery aneurysm. A case of internal carotid aneurysm was associated with... -
- CITED
-
- Close
- SHARE
-
- Close
- Congenital Aniridia: Long-term Clinical Course, Visual Outcome, and Prognostic Factors
-
Chang JW, Kim JH, Kim SJ, Yu YS
- KMID: 2345825
- Korean J Ophthalmol.
- 2014 Dec;28(6):479-485.
- doi: 10.3341/kjo.2014.28.6.479
PURPOSE: To describe the clinical course of congenital aniridia and to evaluate prognostic factors for visual outcome after long-term follow-up. METHODS: The medical records of 120 eyes from 60 patients with... -
- CITED
-
- Close
- SHARE
-
- Close
- Two Cases of Mirror-Image Eye Anomalies in Monozygotic Twins
-
Kim WK, Chung SA, Lee JB
- KMID: 974328
- Korean J Ophthalmol.
- 2010 Oct;24(5):314-317.
- doi: 10.3341/kjo.2010.24.5.314
We report two cases of mirror image anomalies in two different pairs of monozygotic twins. In case 1, the twins exhibited mirroring of strabismus and refractive errors. Twin 1 had... -
- CITED
-
- Close
- SHARE
-
- Close
- Five cases of microphthalmia with other ocular malformations
-
Lee JS, Lee JE, Shin YG, Choi HY, Oum BS, Kim HJ
- KMID: 754292
- Korean J Ophthalmol.
- 2001 Jun;15(1):41-47.
- doi: 10.3341/kjo.2001.15.1.41
We report five cases of complex microphthalmia with other ocular malformations in infants or children, which were evaluated to investigate the relationship between the corneal diameters and total axial length.... -
- CITED
-
- Close
- SHARE
-
- Close
