1.A Case of Carotid Aneurysm in Familial Retinal Arterial Tortuosity.
Je Hyun SEO ; Ivana KIM ; Hyeong Gon YU
Korean Journal of Ophthalmology 2009;23(1):57-58
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 a pattern of retinal arteriolar tortuosity pathognomic for familial retinal arterial tortuosity (fRAT), suggesting possible involvement of the cerebral circulation. We present a case of internal carotid aneurysm associated with a pattern of retinal arteriolar tortuosity pathognomic for fRAT.
Adult
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Aneurysm/*complications/radiography
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Angiography
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Carotid Artery Diseases/*complications/radiography
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*Carotid Artery, Internal
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Diagnosis, Differential
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Eye Abnormalities/complications/diagnosis/*genetics
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Female
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Follow-Up Studies
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Humans
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Retinal Artery/*abnormalities
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Tomography, X-Ray Computed
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Torsion Abnormality/complications/diagnosis/*genetics
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Visual Acuity
2.Analysis of pathological mutation in a Chinese pedigree affected with familial exudative vitreoretinopathy.
Ning SU ; Litao QIN ; Hongdan WANG ; Hai XIAO ; Qiannan GUO ; Tao LI ; Shixiu LIAO
Chinese Journal of Medical Genetics 2018;35(2):193-196
OBJECTIVETo detect potential mutation in a Chinese pedigree affected with familial exudative vitreoretinopathy (FEVR).
METHODSClinical data of the pedigree was collected. Coding regions of candidate genes were amplified by PCR and subjected to next generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing and segregation analysis.
RESULTSTwo novel heterozygous mutations (c.1695dupC and c.552-563del) were respectively detected in the LRP5 and ZNF408 genes in the proband. Both mutations were inherited from the affected mother. By Sanger sequencing, the c.552-563del mutation was also detected among unaffected members, while the c.1695dupC mutation was only detected in affected members from the pedigree and was not recorded by the HGMD, NCBI, or 1000 genome database. Upon prenatal diagnosis, the fetus was found to carry the same mutations.
CONCLUSIONCombined NGS and Sanger sequencing not only can reduce the time required for diagnosis but also enable accurate prenatal diagnosis for FEVR.
Child, Preschool ; DNA-Binding Proteins ; genetics ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Low Density Lipoprotein Receptor-Related Protein-5 ; genetics ; Mutation ; Pedigree ; Prenatal Diagnosis ; Retinal Diseases ; genetics ; Transcription Factors ; genetics
3.Bietti Crystalline Retinopathy Confirmed by Mutation of CYP4V2 Gene in a Korean Patient.
Young Joo PARK ; Duck Jin HWANG ; Moon Woo SEONG ; Sung Sup PARK ; Se Joon WOO
Korean Journal of Ophthalmology 2016;30(1):81-83
No abstract available.
Asian Continental Ancestry Group
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Corneal Dystrophies, Hereditary/diagnosis/*genetics
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Cytochrome P450 Family 4/*genetics
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DNA Mutational Analysis
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Fluorescein Angiography
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Humans
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Male
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Middle Aged
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*Mutation
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Polymerase Chain Reaction
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Republic of Korea
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Retinal Diseases/diagnosis/*genetics
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Retinal Pigment Epithelium/pathology
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Tomography, Optical Coherence
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Visual Acuity