Peripapillary intrachoroidal cavitation (PICC) is a common pathological change observed in high myopia. The exact pathogenesis of PICC is still unclear. Expansion and mechanical stretching of the peripapillary sclera, breakage and defect in the retina near the border of the myopic conus and communication between intrachoroidal cavity and the vitreous space may be important segments during the development of PICC. Color fundus photography shows a localized and well-circumscribed peripapillary lesion with yellow-orange colour, often accompanied by fundus changes, such as myopic conus excavation, optic disc tilting and inferotemporal retinal vein bending at the transition from the PICC to the myopic conus. However, the PICC lesion is not easy to be recognized in the fundus photography. Fluorescein angiography shows early hypofluorescence and later progressively staining in the lesion. Indocyanine green angiography shows hypofluorescence throughout the examination. Optical coherence tomography (OCT) is vital in diagnosing PICC. Hyporeflective cavities inside the choroid, sometimes communicating with the vitreous chamber, can be observed in OCT images. OCT angiography indicates lower vessel density or even absence of choriocapillary network inside or around PICC lesions.
Polypoidal choroidal vasculopathy (PCV) is a fundus disease characterized by choroidal anomalous branch vascular network and terminal polypoidal dilatation. According to its fundus feature, lesion location, imaging feature and disease progression, PCV can be divided into different types or stages. It can be divided into hemorrhage and exudation PCV according to the fundus features, into macular, peripapillary, periphery and mixed types according to the lesion locations. It can also be divided into type 1 and 2 according to the ICGA (indocyanine green angiography) manifestations, and can be classified as early stage and late stage according to disease progression. There were different correlations between different types of PCV and some risk genetic loci, such as ARMS2 (age-related macular degeneration factor 2)/ HTRA1 (high temperature essential protein A1) , C2, complement factor B, complement factor H, and elastin genes. The response to therapy and prognosis are also different between different types. It is important to further study the clinical classification of PCV, to explore the genetic characteristics, influencing factors and treatment or prognosis features of different types of PCV. The results will improve the differential diagnosis of PCV, and the effectiveness of individualized treatment.
Optical coherence tomography angiography (OCTA) is a new and non-invasive imaging technique that is able to detect blood flow signal in the retina and the choroid within seconds. OCTA is different from the traditional angiography methods. The major advantages of OCTA are that it can observe blood flow signal in different layers of the retina and the choroid without injecting any dye, provide blood flow information that traditional angiography cannot provide, and enrich pathophysiological knowledge of the retinal and choroidal vascular diseases., which help us to make an accurate diagnosis and efficient evaluation of these diseases. However there is a large upgrade potential either on OCTA technique itself or on clinical application of OCTA. We need to fully understand the advantage and disadvantage, and differences of OCTA and traditional angiography. We also need to know how to interpret the result of OCTA. With that we could make a fast diagnosis in a non-invasive way and improve our knowledge of the retinal and choroidal vascular diseases.
Choroidal nevus is one of the most common benign melanocytic tumor. The prevalence rate of choroidal nevi is 0.15% - 10.00%, which is high among whites and low among colored people, and is obvious higher in male than that in female. Secondary changes in the surrounding retina of the benign tumor, such as subretinal fluid and choroidal neovascularization, may result in vision loss. This benign tumor carries risks for transformation into malignant melanoma. The factors predictive of transformation into melanoma included greater thickness, subretinal fluid, visual symptoms, orange lipofuscin pigment, tumor location (tumor margin near optic disc), ultrasonography hollowness and absence of halo. Early identification of the related features which impair visual acuity is important for early treatment and better prognosis, and it is especially important to monitor the tendency of malignant transformation. Optical coherence tomography (OCT) could provide detailed information which aid in diagnosing, differentiating and monitoring of choroidal nevi. OCT and optical coherence tomography angiography are emerging as excellent techniques to investigate choroidal melanocytic lesions. The treatment modalities, such as laser photocoagulation, photodynamic therapy and intravitreal anti-vascular endothelium growth factor, have been proved to be effective for choroidal nevi with secondary changes. In the future, the relevant researches should be imposed to provide more detailed information in order to explore the nature and characteristics of this disease.
Objective To observe the clinical features, phenotypes and genotypes in a Chinese family with choroideremia (CHM). Methods A Chinese four-generation family (15 members) with CHM, including 5 patients (4 males/1 female), 2 female carriers and 8 healthy members, was enrolled in this study. Initially all family members underwent best corrected visual acuity (BCVA), indirect ophthalmoscopy, fundus fluorescein angiography, optical coherence tomography (OCT), visual field and full view electroretinogram (ERG). BCVA was followed up for 3 years. Venous blood samples were collected, and all of the 15 coding exons and flanking intron regions were amplified in the proband by polymerase chain reaction followed by direct sequencing. Protein structure was modeled based on the protein data bank and mutations in DeepView v4.0.1 to predict the effect of the mutations. A total of 180 healthy volunteers were enrolled as control group to matching CHM gene sequences. Results The visual acuity (VA) of 3/4 adult male patients began to decrease at less than 10, 10 and 30 years old, the average BCVA was 0.43. There were characteristic signs and symptoms of CHM including narrow visual field, extinguished rod and cone response in ERG, disappeared junction line and intermediate line of photoreceptor inner segment/outer segment on OCT. After 3 years, the mean BCVA decreased to 0.11. The BCVA of one young male patient was 1.0 in both eyes with minor changes fundus and visual field. The VA of the female patient began to decrease at 50 years old, her BCVA of two eyes were 0.5 and 0.25, respectively. The fundus changes were typical of CHM, with relative scotomas in the peripheral visual field of OD, and big scotomas in the OS. After 3 years, her mean BCVA decreased to 0.2. Of 2 female carriers, one had minor fundus changes (patches of pigmentary deposits, atrophy spots of retinal pigment epithelium cells), and the other was normal. A novel heterozygous c.1837G＞A mutation in exon 15 of CHM was detected in the proband, which resulted in the substitution of serine by proline at codon 613 (p.D613N). Based on molecular modeling, the misfolded protein caused by the mutation might destabilize the structure of the helix that potentially could affect the global stability of the Rep-1 protein. Conclusions A novel c.1837G＞A (p.D613N) mutation may be the causative mutation for CHM in this family. Female CHM carriers may have some signs and symptoms.
ObjectiveTo observe the image features of eyes with indirect choroidal rupture on optical coherence tomography (OCT). MethodsFifteen patients (16 eyes) with indirect choroidal rupture were included in this study. There were 11 males (12 eyes) and 4 females (4 eyes). The mean age was (37.5±11.6) years old with a range from 19 to 57 years old. The disease course was ranged from 2 days to 43 years. One patient had bilateral lesions and 14 patients had unilateral lesions. Six patients (6 eyes) were in the acute stage, and 9 patients (10 eyes) were in the recovery stage. Average course of disease was (7.17±4.62) years in acute stage, and (7.93±13.64) years in recovery stage. Choroidal rupture locations of all the 16 eyes were in the posterior pole. Among them, 13 eyes involved foveal area, and 4 eyes with multiple fractures. OCT was used to measure the integrity of the reflective band on the photoreceptor inner segment/outer segment (IS/OS) junction layer as well as the retinal pigment epithelium (RPE), and the blood capillary complex in choroid and RPE for all patients. According to the literature, OCT reflection bands of the RPE and choriocapillaris complex can bent inward (type Ⅰ) or outward (type Ⅱ) to the center of the eyeballs with choroidal rupture. ResultsFor the 6 eyes in acute stage, 4 eyes were typeⅠ (66.67%) and 5 eyes were typeⅡ (83.33%). Three eyes (50.00%) had both typeⅠand typeⅡ OCT features. All 6 eyes (100.00%) had fuzzy or disappeared IS/OS reflective band, 5 eyes (83.33%) showed interrupted RPE reflection band, 4 eyes (66.67%) showed focal choroidal thinning. Two eyes were accompanied with macular hole and 2 eyes were with neural epithelium separated from the macular area. Among the 10 eyes during the recovery stage, 2 eyes (20.00%) were typeⅠand 8 eyes (80.00%) were type Ⅱ. Seven eyes (70.00%) had fuzzy or disappeared IS/OS reflective band, 1 eye (10.00%) showed interrupted RPE reflection band, 7 eyes (70.00%) showed focal choroidal thinning. One eye had secondary choroidal neovascularization, 2 eyes had macular hole, and 3 eyes had neural epithelium shrinkage. The proportion of typeⅠwas significantly higher in the acute stage than that in the recovery stage, and the difference was significant (P=0.001). The proportion of interrupted RPE reflection band in acute stage was also significantly higher than that of the recovery stage, and the difference was statistically significant (P=0.002). ConclusionInjury eyes with indirect choroidal rupture mainly showed RPE choroid blood capillary complex extruding inward or outward the eyeball, fuzzy or disappeared IS/OS reflective band, RPE reflective band interruption or reduced, and focal choroidal thinning.
Optical coherence tomography angiography (OCTA) is a new and noninvasive imaging technique that generates real-time blood flow pattern on chorioretinal vasculature. In order to apply this novel technology in the practice to diagnose and treat ocular fundus diseases, we need to further strengthen the quality of OCTA image acquisition and reporting specifications. We need to understand its technical principle, and multiple factors affecting the OCTA image acquisition and interpretation. Furthermore, In the process of image acquisition, as well as analysis and interpretation, we need to pay attention to the stratification, interpretation of blood flow signals and identification of artifacts of OCTA images.
Objective To cpmpare the assessment of retinal and choroidal disease using confocal scanning laser ophthalmoscope (cSLO) imaging and color fundus camera. Methods Sixty-seven patients (90 eyes) with fundus diseases were included in this study. There were 35 males (51 eyes) and 32 female (39 eyes), mean age was 51.32 years. All subjects underwent fundus imaging using cSLO technology and traditional color fundus camera, positive numbers of every retinal pathological change were calculated and compared. Spectral domain-optical coherence tomography (SD-OCT) was also done to compare the accordance rate between two modes of fundus imaging (cSLO technology and traditional color fundus camera) and SD-OCT in choroidal changes. Results The positive numbers of retinal microaneurysm (χ2=4.157, P < 0.05) and epiretinal membrane (χ2=5.428, P < 0.05) using cSLO fundus imaging were significantly higher than traditional color fundus camera, while the positive numbers of cotton wool spots (χ2=0.523), retinal hemorrhage (χ2=0.117), hard exudates (χ2=0.325) and macular hole (χ2=0.070) were no significant different (P > 0.05). The SD-OCT accordance rate of choroidal pathological changes using cSLO technology was higher than traditional color fundus camera (χ2=9.143, P=0.007). Conclusion In retinal and choroidal diseases, the imaging quality of cSLO fundus imaging technology is better than the traditional color fundus camera technology.
ObjectiveTo observe the clinical characterisitics of choroidal excavation in the macula. MethodsA total of 22 patients (22 eyes) with choroidal excavation diagnosed by spectral domain high definition optical coherence tomography (HD-OCT) were enrolled in this study. The patients included 12 males (54.50%) and 57 females (45.50%). The age was ranged from 21 to 82 years old, with an average of (41.44±13.17) years. All the patients were affected unilaterally, including 9 right eyes and 13 left eyes. The corrected vision, slit lamp microscope with preset lens, fundus photography, HD-OCT and fluorescence fundus angiography (FFA)were measured for all patients. The clinical characterisitics and concomitant diseases were observed. Seventeen eyes were followed for a period between 3 to 12 months. The lesions change were evaluated by HD-OCT. ResultsThere were 18 eyes (81.8%) with symptoms of micropsia and metamorphopsia, 4 eyes (18.2%) without symptoms. The corrected vision was ranged from 0.3 to 1.2, 12 eyes (54.54%) with moderate or high myopia. Fundus examination presents yellowish-white exudation in 12 eyes (54.54%), yellowish-white exudation accompanied with hemorrhage in 9 eyes (40.91%), grayish yellow reflex halo in 1 eye (4.55%). HD-OCT showed that the retinal pigment epithelium (RPE) layer was involved in the excavation, and the photoreceptor outer segment and pigment junction (OPR) layer was disappeared in all eyes. The external limiting membrane and the photoreceptor inner segment/outer segment junction layer were preserved in 13 eyes (59.09%) and disappeared in 9 eyes (40.91%). There were 10 eyes (18.18%) with a single lesion, 4 eyes (18.18%) with idiopathic choroidal neovascularization, 4 eyes (18.18%) with punctate inner choroidopathy, 1 eye (4.55%) with polypoidal choroidal vasculopathy, 1 eye (4.55%) with macular preretinal menbrance, 1 eye (4.55%) with central serous chorioretinopathy. FFA showed hypofluorescence in early phase, hyperfluorescence in late phase, without obvious leakage. There was no noticeable changes in size and morphological changes in the follow-up period. ConclusionsChoroidal excavation in the macula occurs mostly in middle-aged people with myopia. It can be associated with many fundus diseases. The excavation is located in RPE layer, and OPR layer disappeared. Choroidal excavation in the macula develops slowly.
Objective To investigate the characteristics of indocyanine green angiography(ICGA) in central serous chorioretinopathy(CSC) Methods The simultanous fundus fluorescein angiography(FFA) and ICGA were performed on 79 eyes of 70 consecutive patients with Heidelberg Retina Angiography. Results Seventy-nine eyes in FFA revealed RPE leakages.The changes of ICGA showed a small localized delay of filling of choroid vessels during the early phase of angiography in 23 eyes,choroidal capillary congestion in 79 eyes,the choriodal capillary hyperpermeability in the area of RPE leakage in 78 eyes,pigment epithelial detachment in 25 eyes and RPE atrophy in 21 eyes． Conclusion The findings in this research indicate that the choroidal abnormalities are the basic characteristics of ICGA in CSC. (Chin J Ocul Fundus Dis,20000,16:14-16)