1.Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea.
Je Moon YOON ; Mi Ae JANG ; Chang Seok KI ; Sang Jin KIM
Annals of Laboratory Medicine 2016;36(2):166-169
Stickler syndrome is a genetically heterogeneous disorder that affects the ocular, auditory, and musculoskeletal systems. Ocular-only variant of Stickler syndrome type 1 (OSTL1) is characterized by high risk of retinal detachment without systemic involvement and is caused by alternatively spliced exon 2 mutation of COL2A1. We report the cases of two Korean families with OSTL1 carrying likely pathogenic variants of COL2A1. All patients presented with membranous vitreous anomaly, peripheral retinal degeneration, and/or rhegmatogenous retinal detachment, but no systemic manifestations. By genetic analysis, two likely pathogenic non-exon 2 variants, c.2678dupC (p.Ala895Serfs*49) and c.3327+ 1G>C, were identified in COL2A1. Our results demonstrate that COL2A1 defects in OSTL1 are not confined to mutations in exon 2. Together with molecular data, ophthalmologists should consider genetic diagnosis of Stickler syndrome in patients with vitreous anomaly to prevent blindness from retinal detachment. To our knowledge, this is the first report of genetically confirmed OSTL1 in Korea.
Adult
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Arthritis/*genetics/pathology
;
Asian Continental Ancestry Group/*genetics
;
Base Sequence
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Collagen Type II/*genetics
;
Connective Tissue Diseases/*genetics/pathology
;
DNA Mutational Analysis
;
Exons
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Female
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Hearing Loss, Sensorineural/*genetics/pathology
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Humans
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Male
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Middle Aged
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Republic of Korea
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Retinal Detachment/*genetics/pathology
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Visual Acuity
2.Influence of regenerated fluid in vitreous cavity at various periods after vitreoretinal microsurgery on the proliferation and bFGF secretion of cultured human retinal pigment epithelial cells.
Journal of Central South University(Medical Sciences) 2005;30(4):460-462
OBJECTIVE:
To demonstrate the mechanism of positive effects of the sequential air-fluid exchange on the use of complicated vitroretinal microsurgery.
METHODS:
Seventy-one patients who underwent vitreoretinal microsurgery were performed 2 or 3 times sequential air-fluid exchange. The regenerated fliud in vitreous cavity at various periods was collected to act on cultured human retinal pigment epithelial (RPE) cells,and then the secretion of bFGF and the expressions of bcl-2 and ki-67 by RPE cells were observed.
RESULTS:
The expressions of bcl-2 and ki-67 were up-regulated and the secretion of bFGF significantly increased after RPE cells was acted with the regenerated fluid in the vitreous cavity.
CONCLUSION
The sequential air-fluid exchange can mechanically reduce intraocular growth factors after the vitreoretinal microsurgery, indirectly restrain the proliferation of RPE cell, and improve the successful rate of vitreoretinal microsurgery.
Cell Division
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Cells, Cultured
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Fibroblast Growth Factor 2
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metabolism
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Humans
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Ki-67 Antigen
;
biosynthesis
;
genetics
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Microsurgery
;
Pigment Epithelium of Eye
;
pathology
;
Proto-Oncogene Proteins c-bcl-2
;
biosynthesis
;
genetics
;
Regeneration
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Retina
;
surgery
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Retinal Detachment
;
prevention & control
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Secondary Prevention
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Vitrectomy
;
Vitreoretinopathy, Proliferative
;
surgery