OBJECTIVE: The CYP4V2 gene of two pedigrees affected with Bietti crystalline corneoretinal dystrophy was analyzed to indentify the cause of the disease and provide a basis for clinical diagnosis. METHODS: The probands were subjected to next generation sequencing (NGS). Suspected variants were verified by Sanger sequencing. Pathogenicity of the variants were searched through relevant databases and PubMed by following the ACMG guidelines. RESULTS: A homozygous variant in the CYP4V2 gene c. (802-8) _810delTCATACAGGTCATCGCTinsGC was detected in proband from pedigree 1, parents did not detect; CYP4V2 genes c. (802-8)_810delTCATACAGGTCATCGCTinsGC and c. 958 C>T (p.Arg320X) compound heterozygous variants existed in the proband of pedigree 2,both parents were variant carriers. The results of Sanger sequencing showed that the variant of CYP4V2 gene in the two families was consistent with the NGS sequencing. The c. (802-8)_810delTCATACAGGTCATCGCTinsGC of CYP4V2 gene was splicing variant, and both splicing variant and nonsense variant could produce truncated nonfunctional protein products. Based on standards and guidelines by American College of Medical Genetics and Genomics, the CYP4V2 genes c. (802-8)_810del TCATACAGGTCATCGCTinsGC and c. 958 C>T (p.Arg320X) were predicted to be pathogenic variants (PVS1+PS1+PM2+PM3). CONCLUSION The homozygous variant c. (802-8) _810delTCATACAGGTCATCGCTinsGC and the complex heterozygous variants c. (802-8) _810delTCATACAGGTCATCGCTinsGC and c.958C>T (p.Arg320X) in CYP4V2 gene are the cause of the disease in the probands of two pedigrees , respectively.
Corneal Dystrophies, Hereditary/pathology* ; Cytochrome P450 Family 4/genetics* ; Genetic Variation ; Humans ; Mutation ; Pedigree ; Phenotype ; Retinal Diseases/pathology*

BACKGROUNDCollapsin response mediator protein-2 (CRMP2) has been shown to be involved in ischemia/hypoxia (IH) injury. We determined whether CRMP2 modulates ischemic injury in the retinal of Ocular ischemic syndrome (OIS). This study was to explore the molecular mechanisms underlying OIS in a novel mice model.

METHODSExperiments were performed on adult male C57/BL6 mice that received bilateral internal carotid arteries ligation for 1, 2, or 4 weeks. The mice received injection of calpeptin group before occlusion for 4 weeks or not. The expression of CRMP2 in the retinal was examined by western blotting (WB) analysis and immunohistochemical analysis (IHC). The effects of ischemic injury on retinal were evaluated by fundus examination, fundus fluorescein angiography, electroretinogram, cell counting of retinal ganglion cell (RGC), and measurement of the thickness of the retina.

RESULTSThe veins dilated after chronic ischemia. In the electroretinography, the amplitudes of a- and b-waves kept diminishing in an ischemia time-dependent manner. Moreover, the tail vein-retinal circulation time prolonged in the 1- and 2-week group. In comparison, thickness of the retina decreased gradually with the ischemia time elapsed. WB analysis showed the CRMP2 and p-CRMP2 levels decreased in the 2- and 4-week groups. The results of IHC analysis were compatible with our results of WB. The loss of RGCs, decrease of the total reaction time and reduction of CRMP2 was alleviated by intravitreal injection of calpeptin.

CONCLUSIONSThese results revealed that bilateral ligation of the internal carotid artery causes retinal ischemia in mice. Moreover, CRMP2 might play a pivotal role during the ischemic injury in the retina and inhibit the cleavage of CRMP2 can ameliorate the IH injury.

Animals ; Disease Models, Animal ; Electroretinography ; Intercellular Signaling Peptides and Proteins ; genetics ; metabolism ; Ischemia ; genetics ; metabolism ; pathology ; Male ; Mice ; Mice, Inbred C57BL ; Nerve Tissue Proteins ; genetics ; metabolism ; Retinal Diseases ; genetics ; metabolism ; pathology ; Retinal Ganglion Cells ; metabolism ; pathology

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 ; Arthritis/*genetics/pathology ; Asian Continental Ancestry Group/*genetics ; Base Sequence ; Collagen Type II/*genetics ; Connective Tissue Diseases/*genetics/pathology ; DNA Mutational Analysis ; Exons ; Female ; Hearing Loss, Sensorineural/*genetics/pathology ; Humans ; Male ; Middle Aged ; Republic of Korea ; Retinal Detachment/*genetics/pathology ; Visual Acuity

Hereditary vitreous degeneration muddy is rare in clinic. Here we report ten cases (thirteen eyes) of hereditary vitreous degeneration muddy from two families. All patients presented with vitreous opacity, and the textures appeared tough and tensile. Two cases had concurrent detachment of rhegmatogenous retina. HE staining showed red changeableness, and methyl violet staining appeared purple. All patients received vitrectomy with traditional Chinese medicine treatment, and got satisfactory efficacy.
Eye Diseases, Hereditary ; diagnosis ; pathology ; surgery ; therapy ; Female ; Humans ; Male ; Medicine, Chinese Traditional ; Retinal Detachment ; diagnosis ; surgery ; Vitrectomy ; Vitreous Body ; pathology ; surgery

No abstract available.
Asian Continental Ancestry Group ; Corneal Dystrophies, Hereditary/diagnosis/*genetics ; Cytochrome P450 Family 4/*genetics ; DNA Mutational Analysis ; Fluorescein Angiography ; Humans ; Male ; Middle Aged ; *Mutation ; Polymerase Chain Reaction ; Republic of Korea ; Retinal Diseases/diagnosis/*genetics ; Retinal Pigment Epithelium/pathology ; Tomography, Optical Coherence ; Visual Acuity

PURPOSE: To investigate and compare the progression of medically treated primary open angle glaucoma according to the baseline intraocular pressure (IOP). METHODS: This study included a total of 345 eyes from 345 patients (mean follow-up period, 4.5 years). Eyes were classified into either conventional normal tension glaucoma (cNTG, < or =21 mmHg) or conventional high-tension glaucoma (cHTG, >21 mmHg) groups according to the conventional cut-off value of the IOP. Additionally, the median IOP (15 mmHg) was used to create two other groups (median NTG [mNTG] < or =15 mmHg and median HTG [mHTG] >15 mmHg). Using these values, 306, 39, 153, and 192 eyes were assigned to the cNTG, cHTG, mNTG, and mHTG groups, respectively. Glaucoma progression was determined either by optic disc/retinal nerve fiber layer photographs or serial visual field data. RESULTS: Mean reduction of IOP after medical treatment and of central corneal thickness was lower in the cNTG group, while the prevalence of disc hemorrhage and baseline visual field mean deviation did not differ between the cNTG and cHTG groups. A mean reduction in the IOP was observed after medical treatment, and central corneal thickness was lower in the mNTG group; disc hemorrhage was more frequent in the mNTG than in the mHTG group. Among the 345 analyzed eyes, 100 (29%) showed progression during the follow-up period. In the cHTG group, a higher baseline IOP (hazard ratio, 1.147; p = 0.024) was associated with glaucoma progression. Disc hemorrhage (hazard ratio, 15.533; p < 0.001) was also strongly associated with progression in the mNTG group. CONCLUSIONS: Baseline IOP was a significant risk factor for glaucoma progression in cHTG patients (10% of our total participants), while disc hemorrhage showed the strongest association with progression in the mNTG group, indicating that a cut-off value other than the conventional 21 mmHg is required to define true low-tension glaucoma in populations where NTG predominates among all glaucoma patients.
Aged ; Disease Progression ; Female ; Glaucoma, Open-Angle/*diagnosis ; Gonioscopy ; Humans ; Intraocular Pressure ; Low Tension Glaucoma/*diagnosis ; Male ; Middle Aged ; Nerve Fibers/pathology ; Optic Disk/pathology ; Optic Nerve Diseases/*diagnosis ; Photography/standards ; Retinal Ganglion Cells/pathology ; Retrospective Studies ; Tomography, Optical Coherence ; Tonometry, Ocular ; Vision Disorders/diagnosis ; Visual Field Tests/standards ; Visual Fields

Diabetic Retinopathy ; complications ; epidemiology ; physiopathology ; Humans ; Neurodegenerative Diseases ; epidemiology ; etiology ; physiopathology ; Retinal Ganglion Cells ; pathology ; Risk Factors

PURPOSE: Though there are many reports regarding the structure-function relationship in glaucoma, they are too complicated to apply to the routine clinical setting. The aim of this study was to investigate the direct relationship between peripapillary retinal nerve fiber layer (RNFL) thickness measured by optical coherence tomography (OCT) and visual field (VF) severity indices computed by standard automated perimetry. METHODS: This cross-sectional comparative study included 104 glaucomatous patients and 59 healthy subjects. Peripapillary RNFL thickness was measured by spectral domain (SD) and time domain (TD) OCTs. Four glaucoma VF severity indices, including mean deviation (MD), pattern standard deviation (PSD), Collaborative Initial Glaucoma Treatment Study (CIGTS) VF score, and Advanced Glaucoma Intervention Study (AGIS) VF score, were calculated using standard automated perimetry. The Pearson's correlation coefficients (r) between the average and quadrants of peripapillary RNFL thicknesses and the four VF severity indices were calculated. RESULTS: In glaucomatous eyes, the r value between the average RNFL thickness measured by SD OCT and each VF severity index were 0.562, -0.514, -0.577, and -0.567 for the MD, PSD, CIGTS VF score, and AGIS VF score, respectively (all p < 0.001). Among each quadrant, the inferior RNFL thickness showed the largest r value; 0.587, -0.552, -0.613, and -0.598 for the MD, PSD, CIGTS VF score, and AGIS VF score, respectively (all p < 0.001). Measurements by TD OCT showed similar strengths of association with SD OCT. CONCLUSIONS: Moderate correlation was identified between peripapillary RNFL thicknesses measured by SD/TD OCT and glaucoma VF severity indices. Among each quadrant, the inferior RNFL thickness showed the greatest association with glaucoma VF severity indices. There was no significant difference according to the type of VF severity index or the type of OCTs.
Adult ; Aged ; Cross-Sectional Studies ; Female ; Humans ; Male ; Middle Aged ; Nerve Fibers/*pathology ; Optic Nerve/*pathology ; Optic Nerve Diseases/*diagnostic imaging/physiopathology ; Retinal Ganglion Cells/*pathology ; Severity of Illness Index ; Tomography, Optical Coherence/*methods ; Visual Field Tests/methods ; Visual Fields/*physiology ; Young Adult

No abstract available.
Diagnosis, Differential ; Fluorescein Angiography ; Fundus Oculi ; Hamartoma/*congenital/diagnosis ; Humans ; Male ; Retinal Diseases/*congenital/diagnosis ; Retinal Pigment Epithelium/*pathology ; Retinal Telangiectasis/*diagnosis ; Tomography, Optical Coherence ; Young Adult

PURPOSE: To investigate the effects of vitreomacular traction (VMT) on ranibizumab treatment response for neovascular age-related macular degeneration (AMD). METHODS: A retrospective review of 85 eyes of 85 patients newly diagnosed with neovascular AMD was conducted. Patients were eligible if they had received more than three consecutive monthly ranibizumab (0.50 mg) treatments and ophthalmic evaluations. Patients were classified into a VMT (+) group or VMT (-) group according to optical coherence tomography imaging. Best corrected visual acuity and central retinal thickness (CRT) measurements were obtained at three and six months after initial injection. RESULTS: One month after the third injection, mean visual acuity (VA) increases of 6.36 and 9.87 letters were observed in the VMT (+) and VMT (-) groups, respectively. The corresponding mean CRT values decreased by 70.29 microm and 121.68 microm, respectively. A total 41 eyes were identified as eligible for a subsequent fourth injection; 71.1% of patients (27 eyes) in the VMT (+) group but only 29.8% of patients in the VMT (-) group needed a subsequent fourth injection. Follow-up was extended to six months for 42 of the 85 enrolled patients (49.4%). The trends in VA and optical coherence tomography were found to be maintained at six-month follow-up. CONCLUSIONS: VA and CRT appeared to be more improved after ranibizumab treatment in the VMT (-) group compared to the VMT (+) group. VMT might antagonize the effect of ranibizumab treatment in a subpopulation of AMD patients.
Aged ; Aged, 80 and over ; Angiogenesis Inhibitors/*therapeutic use ; Female ; Follow-Up Studies ; Humans ; Intravitreal Injections ; Male ; Middle Aged ; Ranibizumab/*therapeutic use ; Retina/pathology ; Retinal Diseases/*physiopathology ; Retrospective Studies ; Tissue Adhesions ; Tomography, Optical Coherence ; Vascular Endothelial Growth Factor A/antagonists & inhibitors ; Visual Acuity/drug effects ; Vitreous Body/*pathology ; Wet Macular Degeneration/*drug therapy/physiopathology