PURPOSE: To report the results of switching treatment to vascular endothelial growth factor (VEGF) Trap-Eye (aflibercept) in neovascular age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV) refractory to anti-VEGF (ranibizumab and bevacizumab). METHODS: This is a retrospective study involving 32 eyes from 29 patients; 18 were cases of neovascular AMD and 14 were cases of PCV. The best-corrected visual acuity (BCVA) and central macular thickness (CMT) of spectral-domain optical coherence tomography were evaluated. RESULTS: BCVA and CMT improved from 0.58 to 0.55 (p = 0.005) and from 404 to 321 microm (p < 0.001), respectively, after switching to aflibercept. The 14 eyes that received 6 or more aflibercept injections remained stable at 0.81 to 0.81 and 321 to 327 microm (p = 1.0, 0.29), respectively, after 3 aflibercept injections. The 10 eyes that received 3 or more bevacizumab injections after 3 or more aflibercept injections worsened, from 0.44 to 0.47 and from 332 to 346 microm (p = 0.06, 0.05), respectively. The results showed similar improvement of BCVA and CMT in neovascular AMD and PCV. CONCLUSIONS: Aflibercept seems to be effective for improvement and maintenance of BCVA and CMT for neovascular AMD and PCV refractory to anti-VEGF. Switching from aflibercept back to bevacizumab treatment may not be a proper strategy.
Angiogenesis Inhibitors/administration & dosage ; Bevacizumab/administration & dosage ; Choroid/*blood supply ; Choroid Diseases/complications/diagnosis/*drug therapy ; Dose-Response Relationship, Drug ; Drug Therapy, Combination ; Female ; Follow-Up Studies ; Humans ; Intravitreal Injections ; Male ; Ranibizumab/administration & dosage ; Receptors, Vascular Endothelial Growth Factor/*administration & dosage ; Recombinant Fusion Proteins/*administration & dosage ; Retinal Neovascularization/complications/diagnosis/*drug therapy ; Retrospective Studies ; Tomography, Optical Coherence ; Treatment Outcome ; Vascular Endothelial Growth Factor A/*antagonists & inhibitors ; *Visual Acuity ; Wet Macular Degeneration/diagnosis/*drug therapy/etiology

OBJECTIVETo study the clinical characteristics and diagnostic methods of rare autosomal recessive inherited Bardet-Biedl syndrome in patients presented with renal abnormalities.

METHODComprehensive analyses were performed on data of 4 confirmed Bardet-Biedl syndrome cases seen at nephrology department of Beijing Children Hospital affiliated to Capital Medical University, including clinical features, laboratory examination and diagnostic criteria.

RESULT(1) Four cases were confirmed to meet Bardet-Biedl syndrome diagnostic criteria (male: female = 1: 1): first diagnosis age was 10 y, 9 y 8 m, 10 y 10 m, 8 y 2 m. (2) Cases 1, 2, and 3 had a history of polyuria and polydipsia, cases 4 began with edema and oliguria. (3) All had slight change in urine routine test. Case 3 and Case 4 were presented with small to medium amount of proteinuria. None had microscopic hematuria. (4) All had different degree of renal injury, Case 1 and 3 were at the third phase of chronic kidney disease (CKD), Case 4 was at the fourth phase of CKD, Case 4 was at the fifth phase of CKD and needed dialysis. (5) All cases had obvious abnormalities of urinary tract ultrasound, 3 of them had chronic diffuse lesions with cyst formation of both kidneys. The rest one had dysplasia of right kidney and fused kidney. (6) All cases were presented with vision loss with 100% of electroretinogram abnormalities and 50% of fundus examination abnormalities. (7) Three cases were presented with obesity. (8) Multiple organs were involved in all cases, including electrocardiographic abnormality and/or thickening of the left ventricular wall (4/4) , polydactyly (2/4) , small penis and testicles (2/4) and short stature (2/4) .

CONCLUSIONClinical manifestations of Bardet-Biedl syndrome (BBS) conceals, routine urine test changes slightly, abnormalities of renal structure and (or) tubular interstitial function is a typical manifestation of children with BBS. Urinary tract ultrasound screening may show diffuse lesions with double kidney with cyst formation or structural abnormalities. Clinical manifestation accompany with retinal degeneration, obesity, myocardial involvement, polydactyly, and hypogonadism.

Abnormalities, Multiple ; Bardet-Biedl Syndrome ; complications ; diagnosis ; pathology ; Biomarkers ; blood ; urine ; Child ; Female ; Humans ; Intellectual Disability ; Kidney ; abnormalities ; diagnostic imaging ; Kidney Diseases ; diagnosis ; etiology ; pathology ; Male ; Renal Insufficiency ; etiology ; pathology ; Retinal Diseases ; etiology ; pathology ; Tomography, X-Ray Computed ; Ultrasonography, Doppler, Color

A 5-year-old girl was diagnosed with neurofibromatosis type 2 (NF-2) due to multiple neurofibromas, cafe-au-lait spots, and schwannomas of the brain. During ophthalmologic evaluation, a posterior subcapsular cataract and a gray-green colored subretinal lesion were found in right eye. Fluorescein angiography (FA) revealed a combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). At age 9, she underwent cataract surgery. At this time FA and spectral-domain optical coherence tomography (SD-OCT) were taken. The SD-OCT showed an elevated hyperreflective mass in the retina with prominent attenuation of the inner and outer retina, but minimal attenuation in the photoreceptor layers. The underlying retina appeared to be disorganized and thick (791 microm). This is the first case report of SD-OCT imaging of a CHRRPE associated with NF-2 in a pediatric patient. By using SD-OCT in this patient, we could obtain detailed tumor characteristics, and SD-OCT may be helpful in the diagnosis and management of CHRRPE.
Child, Preschool ; Diagnosis, Differential ; Female ; Hamartoma/complications/*diagnosis ; Humans ; Neurofibromatosis 2/*complications/diagnosis ; Retinal Diseases/complications/*diagnosis ; Retinal Pigment Epithelium/*pathology ; Tomography, Optical Coherence/*methods ; Visual Acuity

PURPOSE: To determine the lowest limit of signal strength that is still effective for accurate analysis of optic coherence tomography (OCT) values, we investigated the reproducibility of OCT scans by signal strength (SS). METHODS: A total of 668 subjects were scanned for measurements of retinal nerve fiber layer (RNFL) thickness using the Stratus OCT twice on the same day. The variability of overall RNFL thickness parameters obtained at different SS was analyzed and compared by repeated-measures of ANOVA and Spearman's correlation coefficient. Values of the intraclass correlation coefficient (ICC) and variability (standard deviation) of RNFL thickness were obtained. The false positive ratio was analyzed. RESULTS: When SS was 3, the variability of RNFL thickness was significantly different (low ICC, high variability) in comparison to when SS was 4 or greater. Significant negative correlations were observed between variability in RNFL thickness and signal strength. The difference of variability of average RNFL thickness between SS 4 (4.94 microm) and SS 6 (4.41 microm) was 0.53 microm. CONCLUSIONS: Clinically, the difference of variability of average RNFL thickness between SS 4 and SS 6 was quite small. High SS is important, however, when signal strength is low due to uncorrectable factors in patients in need of OCT for glaucoma and retinal disease. Our results suggest that SS 4 is the lowest acceptable limit of signal strength for obtaining reproducible scanning images.
Adolescent ; Cross-Sectional Studies ; Diagnosis, Differential ; Disease Progression ; False Positive Reactions ; Female ; Glaucoma/complications/*diagnosis ; Humans ; Male ; Prospective Studies ; Reproducibility of Results ; Retinal Diseases/*diagnosis/etiology ; Retinal Ganglion Cells/*pathology

PURPOSE: To investigate the clinical characteristics of polypoidal choroidal vasculopathy (PCV) associated with chronic central serous chorioretinopathy (CSC). METHODS: We retrospectively reviewed the medical records of 246 PCV patients (283 eyes) between July 2004 and August 2009 and investigated the clinical characteristics of the PCV patients who had specific fundus findings of chronic CSC. RESULTS: Among PCV patients, 13 eyes (4.6%) of 13 PCV patients (5.3%) had fundus findings of chronic CSC. All of the PCV lesions had a solitary polyp located outside the atrophic retina, predominantly in the macular area (84.6%), most showed an exudative pattern (69.2%) and there were a few that showed a hemorrhagic pattern (30.8%). All of the lesions were smaller than 1 disc diameter. Most of the PCV lesions (76.9%) were cured with less than two treatments in a short period of 6.4 +/- 1.9 months; however, visual acuity deteriorated (61.5%) or was not changed (30.8%) in most of the cases. CONCLUSIONS: The PCV associated with chronic CSC had several clinical features such as a small exudative retinal lesion with a solitary polyp and frequent involvement of the macular area. Even though there was poor visual outcome due to the atrophic change, all of the PCV lesions were easily resolved in a short period with a simple treatment course and no recurrence.
Aged ; Choroid/*blood supply ; Choroid Diseases/*complications/diagnosis/therapy ; Female ; Fluorescein Angiography ; Humans ; Indocyanine Green/diagnostic use ; Male ; Middle Aged ; Retinal Detachment/complications/diagnosis/therapy ; Retinal Diseases/*complications/diagnosis/therapy ; Retrospective Studies ; Risk Factors ; Visual Acuity

The purpose of this article is to compare spectral-domain (SD) and time-domain (TD) optical coherence tomography (OCT) findings in patients with solar retinopathy. Complete ocular examinations and OCT were performed in two patients presenting with acute solar retinopathy soon after observation of an eclipse. Both patients were evaluated with SD-OCT and TD-OCT at the same time. SD-OCT demonstrated characteristic defects at the level of the inner and outer segment junction of the photoreceptors in all the affected eyes and decreased reflectiveness of the retinal pigment epithelium layer. TD-OCT images showed unremarkable findings in two eyes with deteriorated visual acuity. SD-OCT improves diagnosis and assessment of the degree and nature of foveal damage in patients with solar retinopathy and may be an important tool for use in identifying foveal damage not detected by TD-OCT. SD-OCT may be preferable to TD-OCT for confirmation or assessment of the degree of foveal damage in patients with solar retinopathy.
Child ; Eye Burns/complications/*diagnosis ; Follow-Up Studies ; Humans ; Male ; Retina/pathology/*radiation effects ; Retinal Diseases/*diagnosis/etiology ; Sunburn/complications/*diagnosis ; Time Factors ; Tomography, Optical Coherence/*methods ; Trauma Severity Indices ; Visual Acuity ; Visual Fields ; Young Adult

The variability of cardiovascular abnormalities is one of the characteristics of systemic lupus erythematosus (SLE). Among the cardiovascular manifestations, hypertension is reported in 14% to 58.1% of patients in diverse ethnic populations, and remains a clinically important issue due to its close relationship with early mortality in patients with SLE. The development of hypertension in patients with SLE has been associated with advanced lupus-related renal disease and the medications used for the treatment of lupus. Malignant hypertension is a serious complication of hypertension; it rarely occurs in patients with SLE. However, it can occur in patients with other complicated medical conditions such as the antiphospholipid antibody syndrome (APS) or cardiac tamponade. Here, we report the case of a patient with SLE and malignant hypertension with hypertensive retinopathy that initially presented without clinical evidence of APS or hypertensive nephropathy.
Adult ; Female ; Humans ; Hypertension, Malignant/*diagnosis/*etiology ; Lupus Erythematosus, Systemic/*complications/*diagnosis ; Lupus Nephritis/complications/diagnosis ; Retinal Diseases/*diagnosis/*etiology

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 ; Aneurysm/*complications/radiography ; Angiography ; Carotid Artery Diseases/*complications/radiography ; *Carotid Artery, Internal ; Diagnosis, Differential ; Eye Abnormalities/complications/diagnosis/*genetics ; Female ; Follow-Up Studies ; Humans ; Retinal Artery/*abnormalities ; Tomography, X-Ray Computed ; Torsion Abnormality/complications/diagnosis/*genetics ; Visual Acuity

Retinoblastoma, the most common primary intraocular malignancy of childhood, usually presents in the first three years of life. Atypical presentation of retinoblastoma can masquerade as virtually any ocular or orbital pathology, which may lead to diagnostic dilemmas especially in the presence of other systemic diseases. We report a 20-month-old boy who was diagnosed with coronary aneurysm as a complication of Kawasaki disease, and presented with sudden left eye redness. His mother noticed the presence of white pupillary reflex three months earlier. Atypical acute ocular presentation secondary to Kawasaki disease was initially suspected, but the presence of multiple calcification and mild proptosis on imaging suggested characteristics of advanced retinoblastoma. Histopathological examination of the enucleated eye, which revealed a classical rosette pattern appearance, confirmed the diagnosis. Atypical presentations of retinoblastoma are usually associated with advanced disease. The presence of other systemic conditions further complicates the diagnosis. Early diagnosis is important to reduce the mortality and morbidity.
Coronary Aneurysm ; complications ; diagnosis ; Diagnosis, Differential ; Eye ; diagnostic imaging ; physiopathology ; Eye Diseases ; diagnosis ; Humans ; Infant ; Male ; Mucocutaneous Lymph Node Syndrome ; complications ; diagnosis ; Retinal Neoplasms ; complications ; diagnosis ; diagnostic imaging ; Retinoblastoma ; complications ; diagnosis ; diagnostic imaging ; Treatment Outcome ; Ultrasonography

PURPOSE: To evaluate the usefulness of OCT retinal mapping in determining the configuration of a vitreomacular adhesion and selecting a meridian for entry into the subhyaloid space in patients with vitreomacular traction syndrome. METHODS: Six consecutive patients (6 eyes) with vitreomacular traction syndrome underwent vitrectomy with peeling of posterior hyaloid. Ocular coherence tomography (OCT) retinal mapping was performed preoperatively. Access to the subhyaloid space was made by creating an opening with a 25 gauge needle at a location where the detached posterior hyaloid membrane was farthest from the retinal surface. The location was selected based on six preoperative meridional OCT scans. The posterior hyaloid was then gently peeled off in a circular fashion around the fovea with a micropick. Visual acuity and foveal thicknesses were measured before the operation and 3 months afterwards. RESULTS: After the operation, visual acuity improved and central macular thicknesses were reduced significantly in all six patients. The best corrected visual acuity improved from 0.4 to 0.75 with a mean increase by 3.5 lines on a Snellen chart 3 months after the operation. The mean foveal thickness was reduced from 406 micrometer to 241 micrometer. The restoration of foveal pit was observed in five patients. Neither intraoperative nor postoperative complications were observed during the follow up period. CONCLUSIONS: An OCT retinal mapping program is a valuable diagnostic tool in understanding the configuration of vitreomacular adhesion and planning the surgical approach for operating on vitreomacular traction syndrome.
Aged ; Eye Diseases/diagnosis/etiology/*surgery ; Female ; Humans ; Male ; Middle Aged ; Retinal Diseases/diagnosis/etiology/*surgery ; Syndrome ; Tissue Adhesions/etiology/surgery ; *Tomography, Optical Coherence ; Visual Acuity ; Vitrectomy/*methods ; Vitreous Body/pathology/*surgery ; Vitreous Detachment/complications