OBJECTIVE: We wanted to investigate the radial peripapillary capillary (RPC) network in patients with Bietti crystalline dystrophy (BCD). METHODS: We compared RPC densities in the disk and different peripapillary regions, obtained using optical coherence tomography angiography in 22 patients with BCD (37 eyes) and 22 healthy subjects (37 eyes). The BCD group was then divided into Stage 2 and Stage 3 subgroups based on Yuzawa staging, comparing the RPC densities of the two. RESULTS: The disk area RPC density was 38.8% ± 6.3% in the BCD group and 49.2% ± 6.1% in the control group ( P < 0.001), and peripapillary region RPC density was significantly lower in the BCD group than in the control group (49.1% ± 4.7% and 54.1% ± 3.0%, respectively, P < 0.001). There were no significant RPC density differences between the tempo quadrant and inside disk of Stages 2 and 3 subgroups; the other areas showed a significantly lower RPC density in Stage 3 than in Stage 2 BCD. CONCLUSION The BCD group RPC density was significantly lower than the control group. The reduction of RPC density in the tempo quadrant occurred mainly in the Stage 1 BCD. In contrast, the reduction of RPC density in superior, inferior, and nasal quadrants occurred mainly in Stage 2.
Adult ; Aged ; Angiography ; Corneal Dystrophies, Hereditary/physiopathology* ; Female ; Humans ; Male ; Microvascular Density ; Microvessels/physiopathology* ; Middle Aged ; Retinal Diseases/physiopathology* ; Retinal Vessels/physiopathology* ; Tomography, Optical Coherence

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*

PURPOSE: To understand the ophthalmic clinical features and outcomes of facial nerve palsy patients who were referred to an ophthalmic clinic for various conditions like Bell's palsy, trauma, and brain tumor. METHODS: A retrospective study was conducted of 34 eyes from 31 facial nerve palsy patients who visited a clinic between August 2007 and July 2017. The clinical signs, management, and prognosis were analyzed. RESULTS: The average disease period was 51.1 ± 20.6 months, and the average follow-up duration was 24.0 ± 37.5 months. The causes of facial palsy were as follows: Bell's palsy, 13 cases; trauma, six cases; brain tumor, five cases; and cerebrovascular disease, four cases. The clinical signs were as follows: lagophthalmos, 24 eyes; corneal epithelial defect, 20 eyes; conjunctival injection, 19 eyes; ptosis, 15 eyes; and tearing, 12 eyes. Paralytic strabismus was found in seven eyes of patients with another cranial nerve palsy (including the third, fifth, or sixth cranial nerve). Conservative treatments (like ophthalmic ointment or eyelid taping) were conducted along with invasive procedures (like levator resection, tarsorrhaphy, or botulinum neurotoxin type A injection) in 17 eyes (50.0%). Over 60% of the patients with symptomatic improvement were treated using invasive treatment. At the time of last following, signs had improved in 70.8% of patients with lagophthalmos, 90% with corneal epithelium defect, 58.3% with tearing, and 72.7% with ptosis. The rate of improvement for all signs was high in patients suffering from facial nerve palsy without combined cranial nerve palsy. CONCLUSIONS: The ophthalmic clinical features of facial nerve palsy were mainly corneal lesion and eyelid malposition, and their clinical course improved after invasive procedures. When palsy of the third, fifth, or sixty cranial nerve was involved, the prognosis and ophthalmic signs were worse than in cases of simple facial palsy. Understanding these differences will help the ophthalmologist take care of patients with facial nerve palsy.
Bell Palsy ; Brain Neoplasms ; Cerebrovascular Disorders ; Cranial Nerve Diseases ; Cranial Nerves ; Epithelium, Corneal ; Eyelids ; Facial Nerve ; Facial Paralysis ; Follow-Up Studies ; Humans ; Paralysis ; Prognosis ; Retrospective Studies ; Strabismus ; Tears

PURPOSE: We evaluated the usefulness of the Tomey TMS-4N™ computerized videokeratoscopy (Tomey, Nagoya, Japan) for dry eye by analyzing the correlation between the regularity indices of TMS-4N™ and conventional dry eye parameters or dry eye severity. METHODS: In this retrospective study, the medical records of 193 dry eye patients (386 eyes) were analyzed. The regularity indices of TMS-4N™ such as the surface asymmetry index (SAI), surface regularity index (SRI), potential visual acuity (PVA), and irregular astigmatism index (IAI) were compared with conventional dry eye parameters (corrected visual acuity [CVA], ocular surface disease index [OSDI] score, tear film break-up time [TBUT], corneal staining score [CFS], and Schirmer's I test). We also analyzed correlations between the regularity indices of TMS-4N™ and dry eye severity according to the Korean Corneal Disease Study Group. RESULTS: The regularity indices of TMS-4N™ such as SAI, SRI, PVA, and IAI increased according to the severity of dry eye. The regularity indices correlated significantly and positively with the CVA and CFS, but were significantly and negatively correlated with the TBUT. The OSDI score did not correlate with the regularity indices. CONCLUSIONS: The regularity indices of TMS-4N™ provide an objective method for follow-up as well as a means to measure the severity of dry eye disease.
Astigmatism ; Corneal Diseases ; Eye Diseases ; Follow-Up Studies ; Humans ; Medical Records ; Methods ; Retrospective Studies ; Tears ; Visual Acuity

INTRODUCTIONThis study aimed to describe and compare corneal graft survival and optical outcomes following deep anterior lamellar keratoplasty (DALK) and Descemet's stripping automated endothelial keratoplasty (DSAEK) with penetrating keratoplasty (PK), and to document tectonic success of patch grafts.

MATERIALS AND METHODSThis was a retrospective, non-randomised, comparative and descriptive cohort study. A total of 139 eyes that underwent primary keratoplasty between 2000 and 2016 were included, and the following data was extracted: demographics, clinical diagnosis and primary indication, pre- and intraoperative risk factors, postkeratoplasty outcomes, and complications. Optical success was defined as good graft clarity and best corrected visual acuity (BCVA) of 6/12 or better. Graft failure was defined as irreversible corneal oedema and loss of clarity. Tectonic success in patch grafts was defined as tectonic integrity with no repeat tectonic surgical procedure required in the postoperative period.

RESULTSThe mean follow-up duration was 3.24 ± 3.47 years in the PK group (n = 16), 1.89 ± 0.86 years in the DALK group (n = 37), 2.36 ± 1.24 years in the DSAEK group (n = 53), and 2.17 ± 1.09 years in the patch graft group (n = 33). The 3-year probabilties of survival for PK, DALK, DSAEK and patch graft were 60.9%, 94.1%, 89.9%, and 67.1%, respectively. The overall percentage of complications was significantly higher for PK (81.3%), compared to DALK (48.6%), DSAEK (49.1%), and patch graft (21.2%). In the PK and DALK groups, 100% achieved DSAEK (49.1%), and patch graft (21.2%). In the PK and DALK groups, 100% achieved BCVA of 6/12 or better, while in the DSAEK group, 96.43% achieved BCVA of 6/12 or better.

CONCLUSIONFrom a similar study cohort of Asian eyes, graft survival was superior and complications were reduced for DALK and DSAEK compared to PK, but optical outcomes were comparable. Graft survival for patch graft was expectedly lower, but the incidence of complications was low.

Corneal Diseases ; surgery ; Corneal Transplantation ; Female ; Follow-Up Studies ; Graft Survival ; Humans ; Male ; Outcome Assessment (Health Care) ; Registries ; Retrospective Studies ; Singapore ; Tertiary Care Centers

PURPOSE: Transforming growth factor-β-induced protein (TGFBIp) is highly expressed in the cornea, and mutant TGFBIp induces corneal diseases. However, the function of TGFBIp in cornea epithelium is not fully investigated. Here, we tested the importance of TGFBIp in regulation of gene expression and corneal epithelial cell (CEC) activity. MATERIALS AND METHODS: The effect of TGFBIp on CEC activity was analyzed by cell migration, adhesion, proliferation and wound healing assay. Analysis of gene expression was examined by western blot and quantitative reverse transcription PCR. RESULTS: The results demonstrated that TGFBIp increased adhesion, migration, proliferation, and wound healing of CECs. Analysis of gene expression presented that TGFBIp-stimulated CECs exhibited increased expression of mucin family genes, such as MUC1, -4, -5AC, and -16. Furthermore, TGFBIp treatment increased the expression of MUC1, -4, -5AC, -7, and -16 in conjunctival epithelial cells. TGFBIp also increased the activity of intracellular signaling molecules ERK and AKT in CECs. Using pharmacologic inhibitors of ERK and AKT, we showed that the expression of mucin genes by TGFBIp is mediated by the activation of ERK and AKT signaling. CONCLUSION: Our findings demonstrate that the locally generated TGFBIp in the cornea may contribute to wound healing of CECs by enhancing the migration, adhesion, and proliferation of CECs. In addition, our results suggest that TGFBIp has a protective effect on ocular surfaces by inducing the expression of mucin genes in corneal and conjunctival epithelial cells. These data suggest that TGFBIp is a useful therapeutic target for patients with corneal wounds.
Blotting, Western ; Cell Movement ; Cornea ; Corneal Diseases ; Epithelial Cells* ; Epithelium ; Gene Expression ; Gene Expression Regulation ; Humans ; Mucins* ; Polymerase Chain Reaction ; Reverse Transcription ; Wound Healing* ; Wounds and Injuries*

PURPOSE: To analyze the effect of scleral lens application for preventing corneal edema during vitrectomy on postoperative corneal status using anterior segment OCT (RTVue 100, Optovue, Fremont, CA, USA). METHODS: The medical records of 42 eyes (42 patients) who underwent total vitrectomy with no appreciable corneal disease between November 2014 and June 2015 were retrospectively reviewed. Evaluations were performed at 1 day, 1 week, and 1 month after total vitrectomy. Corneal status was noted at every follow-up visit using anterior segment OCT. An analysis was performed to define the changes in corneal status in association with scleral lens application during the surgery. RESULTS: 18 of 42 eyes were treated with a scleral lens during total vitrectomy. The corneal thickness increased after vitrectomy in all cases. The mean corneal thickness increment was 23.9 ± 9.7 µm in the scleral lens group and 43.0 ± 19.5 µm in the non-scleral lens group at 1 day after vitrectomy (p < 0.001). At 1 week after vitrectomy, the mean corneal thickness increment was 8.1 ± 7.2 µm in the scleral lens group and 32.3 ± 19.2 µm in the non-scleral lens group (p < 0.001). The difference in superficial punctate keratitis grade between the two groups was not statistically significant. CONCLUSION: Scleral lens application during vitrectomy seems to prevent postoperative corneal edema. More cases and a longer period of study is needed to draw definitive conclusions.
Corneal Diseases ; Corneal Edema* ; Follow-Up Studies ; Keratitis ; Medical Records ; Retrospective Studies ; Vitrectomy*

Rheumatic diseases are associated various extra-articular manifestations, such as eye, nerve, pericardium, and pleura. The anterior part of the eye has distinguished anatomic structure resembling synovial joints, thus it is a common site of ocular manifestation in rheumatic disease. These changes include sicca syndrome, peripheral ulcerative keratitis, episcleritis, scleritis, and iritis. Some of these findings may be the clues for the diagnosis of the rheumatic diseases, and some ocular manifestations may represent the activity or prognosis of the rheumatic diseases. These ocular complications may leads to severe visual loss. It is crucial to rule out underlying systemic diagnosis in rheumatic disease associated ocular diseases, and when diagnosed, the coordination of the rheumatologist with the ophthalmologist in the treatment is imperative.
Corneal Ulcer ; Diagnosis ; Eye Diseases* ; Iritis ; Joints ; Pericardium ; Pleura ; Prognosis ; Rheumatic Diseases* ; Scleritis ; Sjogren's Syndrome

OBJECTIVETo observe the characteristic morphological changes of corneal endothelial dysfunction induced by phacoemulcification in rhesus monkey models under confocal microscope.

METHODSThe corneal endothelial dysfunction models were established by phacoemulcification power on the central corneal of 7 to 9 mm diameter in the right eyes of 4 rhesus monkeys (the modeling group). The left eyes of 4 rhesus monkeys were set as blank control group. The structural changes in different corneal layers were evaluated by slit lamp microscope and in vivo confocal microscope before surgery and 1, 2, 3, and 4 weeks after surgery. SPSS 19.0 software was applied to analyze data. Paired-t test was used to compare the number of nerve plexus in Bowman's layer and corneal endothelial cell density. Analysis of variance (ANOVA) was used to analyze corneal thickness.

RESULTSAfter phacoemulcification, the changes of cornea occurred gradually in the endothelial layer, stroma, Bowman's membrane, and basal epithelial layer. In the early stage, the interspace of corneal endothelial cells enlarged and few activated stromal cells were detected in the stroma. The cell morphology of stroma altered. The thickness of stroma increased. Two weeks after surgery, the nerve plexus in Bowman's layer decreased and edema of stroma and endothelial layer increased. Three weeks after surgery, the interspace of basal epithelial cells increased with a few Langerhans' cells infiltration and edema of stroma and endothelial layer increased. Four weeks after the surgery, a large amount of Langerhans' cells presented in basal epithelial layer. Only a few nerve lexus could be seen in Bowman's layer. The stroma and endothelial cells had severe edema. A large number of activated stromal cells could be found in stromal layer. Two weeks after the surgery, the number of nerve plexus in Bowman's layer (t=6.9192, P=0.002) and corneal endothelial cell density (t=7.8936, P<0.0001) in the modeling group were significantly lower than that in control group. Compared with corneal thickness in control group, it was significantly larger in the modeling group at 1 (t=28.31, P<0.0001), 2 (t=63.56, P<0.0001), 3 (t=123.22, P<0.0001), and 4 weeks (t=180.80, P<0.0001) after the surgery.

CONCLUSIONSThe changes in corneal endothelial dysfunction induced by phacoemulcification in rhesus monkey models can be clearly shown under in vivo confocal microscope. Gradual increase of endothelial cells interspace, activated stromal cells, increase of Langerhans' cells, and decrease of plexus in Bowman's layer are the main changes.

Animals ; Corneal Diseases ; Endothelial Cells ; Langerhans Cells ; Macaca mulatta ; Microscopy, Confocal

PURPOSE: To report a case of Paecilomyces lilacinus fungal keratitis after cataract surgery in a patient with chronic systemic and autoimmune disease who was treated with medical therapy and penetrating keratoplasty. CASE SUMMARY: A 72-year-old female was referred for decreased visual acuity and ocular pain in the left eye. She underwent cataract surgery in the left eye 1 month earlier and was treated for 2 weeks for corneal edema and stromal infiltration around the corneal suture. She had a chronic systemic disease with hypertension, hyperlipidemia, hepatitis C and rheumatoid arthritis. Suspecting infectious keratitis, the patient was instructed to stop applying topical and systemic steroids and use topical amphotericin B (0.15%) and moxifloxacin (0.5%). However, without improvement, amphotericin B (0.15%) and moxifloxacin (0.5%) were changed to natamycin (5%) and topical voriconazole (2%) and systemic voriconazole was added. However, her systemic status deteriorated and corneal melting developed, scleral graft implantation and amniotic membrane implantation were performed to prevent corneal perforation 6 weeks after the initial visit. Paecilomyces lilacinus was identified in culture at 7 weeks and penetrating keratoplasty was performed 12 weeks after the initial visit. After penetrating keratoplasty, corneal status was stable for 6 months and no signs of recurrence were observed. CONCLUSIONS: In a patient with Paecilomyces lilacinus fungal keratitis and chronic systemic and autoimmune disease, penetrating keratoplasty showed good prognosis when the disease was refractory to topical and systemic antifungal agents.
Aged ; Amnion ; Amphotericin B ; Antifungal Agents ; Arthritis, Rheumatoid ; Autoimmune Diseases* ; Cataract* ; Corneal Edema ; Corneal Perforation ; Female ; Freezing ; Hepatitis C ; Humans ; Hyperlipidemias ; Hypertension ; Keratitis* ; Keratoplasty, Penetrating ; Natamycin ; Paecilomyces* ; Prognosis ; Recurrence ; Steroids ; Sutures ; Transplants ; Visual Acuity ; Voriconazole