- Sjögren's Reticular Retinal Dystrophy
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Noh H, Bae K, Kang SW
- KMID: 2459134
- J Korean Ophthalmol Soc.
- 2019 Sep;60(9):887-891.
- doi: 10.3341/jkos.2019.60.9.887
PURPOSE: To report a rare case of Sjögren's reticular retinal dystrophy. CASE SUMMARY: A 54-year-old male presented with blurred vision and metamorphopsia in both eyes since a few years prior to... -
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- A Case of Joubert Syndrome Associated with Nephrocalcinosis and Agenesis of Cerebellar Vermis
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Kim JH, Shin HK, Yoo KH, Hong YS, Lee JW, Kim SK
- KMID: 2322079
- J Korean Soc Pediatr Nephrol.
- 2002 Oct;6(2):266-273.
There are several diseases characterized by neurologic abnormalities and renal disease. Joubert syndrome is one of them. Joubert syndrome is a relatively rare autosomal recessive syndrome. The most significant and... -
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- Congenital Ocular Motor Apraxia without Head Thrusts: A Case of Joubert Syndrome
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Kwon GR, Kim MS, Chang HR
- KMID: 2123488
- J Korean Ophthalmol Soc.
- 1996 Jul;37(7):1236-1240.
Joubert syndrome is the very rare autosomal recessive disorder which is including agenesis of cerebellar vermis, respiratory discomfort, ocular motor apraxia, hereditary retinal dystrophy, ataxia and developmental retardation. To diagnose,... -
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- A Case of Joubert Syndrome
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Kim HY, Kim SJ, Kim JS
- KMID: 1554062
- J Korean Pediatr Soc.
- 1997 Jun;40(6):887-892.
Joubert syndrome is frequently associated with developmental delay and mental retardation, neonatal tachypnea and apnea, abnormal eye movements, and ataxia. It is inherited by an autosomal recessive trait. The most... -
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- Two siblings with Bardet-Biedl syndrome caused by mutations in BBS10: the first case identified in Korea
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Yoon SC, Lee HJ, Ko JM, Kang HG, Cheong HI, Yu HG, Kim JH
- KMID: 1737961
- J Genet Med.
- 2014 Jun;11(1):31-35.
- doi: 10.5734/JGM.2014.11.1.31
Bardet-Biedl syndrome (BBS) is a rare ciliopathy generally inherited with an autosomal recessive pattern. BBS is characterized by 6 primary features namely retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning... -
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- Epidemiologic Aspects of Medical Retirement from the Republic of Korea Army due to Visual Impairment
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Jeong JH, Chun YS, Park KH
- KMID: 2363704
- J Korean Med Sci.
- 2016 Apr;31(4):623-629.
- doi: 10.3346/jkms.2016.31.4.623
This study was done to report the epidemiologic characteristics of medical retirement from the Republic of Korea (ROK) Army due to visual impairment and to suggest a practical screening system... -
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- Clinical Study of Symptoms and Various Anomalies of Patients with Joubert Syndrome
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Jeong HB, Hwang SH, Kim KJ, Hwang YS, Kim SC, Kim IO
- KMID: 2011658
- J Korean Pediatr Soc.
- 1997 Mar;40(3):385-392.
PURPOSE: Joubert syndrome is known to be an autosomal recessive disorder characterized by cerebellar vermian dysgenesis with many symptoms and variety of other malformations. We studied the relevant symptoms and... -
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- Morphologic Characteristics of the Outer Retina in Cone Dystrophy on Spectral-domain Optical Coherence Tomography
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Cho SC, Woo SJ, Park KH, Hwang JM
- KMID: 1501791
- Korean J Ophthalmol.
- 2013 Feb;27(1):19-27.
- doi: 10.3341/kjo.2013.27.1.19
PURPOSE: To investigate the morphologic changes in the outer retina of patients with cone dystrophy, using spectral-domain optical coherence tomography (SD-OCT). METHODS: The medical records of 15 cone dystrophy patients examined... -
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- Whole Exome Sequencing in a Korean Child with Joubert Syndrome-related Disorders
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Lee JH, Oh IK, Yoon MJ, Yoon KH
- KMID: 2363007
- Lab Med Online.
- 2017 Jan;7(1):45-48.
- doi: 10.3343/lmo.2017.7.1.45
Joubert syndrome and Joubert syndrome-related disorders (JSRDs) are rare autosomal recessive or X-linked disorders characterized by cerebellar vermis hypoplasia and a brain stem malformation, which presents as the “molar tooth... -
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