Multicolor imaging (MCI) based on confocal scanning laser ophthalmoscopy can gather more diagnostic information than traditional fundus photographs through utilizing three wavelengths of laser to scan posterior retina, which gain different layer reflected signal since the depth of penetration into retina is different for each wavelength. Currently, it provides important information and reference value for diagnose of different layer diseases on retina or choroid combining MCI with OCT, FAF, FFA and so on. However, there are still misunderstandings in the diagnosis of retinal diseases with MCI. Careful observation of retinal details in MCI, CFP and other imaging methods is more conducive to the correct diagnosis of fundus ophthalmopathy.
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.
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.
Ultra-wide field fundus autofluorescence (FAF) imaging is a new noninvasive technique with an imaging range of about 200 °. It can detect peripheral retinal lesions that cannot be found in previous FAFs and more objectively reflect intracellular content and distribution of lipofuscin in the retinal pigment epithelium (RPE) and RPE cell metabolic status. The ultra-wide field FAF can find the abnormal autofluorescence (AF) in the peripheral retina of the eyes of age-related macular degeneration (AMD), and different AF manifestations may have an impact on the diagnosis and treatment of the different AMD subtypes. It is helpful to evaluate subretinal fluid in the eyes of central serous choroidal retinopathy and can accurately detect the changes in the outer retina of the eyes without subretinal fluid. It can help to determine the type of uveitis and fully display the evolution of the disease. It can also assess the peripheral photoreceptor cell layer and RPE in patients with retinal dystrophy and retinitis pigmentosa, and comprehensively evaluate their retinal function and monitor the progress of disease. It can also assist in the evaluation of the short-term efficacy and RPE cell function after the scleral buckling surgery for patients with rhegmatogenous retinal detachment. In the future, ultra-wide field FAF may change the knowledge and intervention strategy of ocular fundus diseases and promote the clinical and scientific research in this field.
Objective To compare the characteristics of fundus angiograms of central serous chorioretinopathy (CSC) with exudative agerelated macular degeneration (AMD) in patients more than 45. Methods The colorized photographs of ocular fundus, and results of fundus fluorescein angiography (FFA) and indocyanine green angiography (ICGA) of 32 patients (39 eyes) with CSC and 20 patients (22 eyes) with exudative AMD more than 45 were collected and analyzed retrospectively. Results In 39 eyes with CSC, the results of FFA revealed classic CSC in 11 (28.2％) and diffuse retinal pigment epitheliopathy (DRPE) in 28 (71.8％); the results of ICGA showed localized choroidal delayed filling associated with dilated vessels in 39 (100％) in the early phase, choroidal hyperpermeability in 39 (100％), identifiable hyperfluorescence of leakage from RPE in 16 (41.0％) was observed in the middle phase, and a distinctive silhouetting of the larger choroidal vessels in 5 (12.8％) was detected in the late phase. In 22 eyes with exudative AMD without evident hemorrage, the results of ICGA exhibited focal CNV in 13 (59.1％), plaque CNV in 8 (36.4%), and combination CNV in 1 (4.5%)；choroidal delayed filling around macular region vicariously was found in 5 (22.7％) in the early phase, choroidal hyperpermeability was not observed in the middle phase and silhouetting of the larger choroidal vessels was not showed in the late phase. Conclusions The differences of the ICGA features between CSC and exudative AMD in patients more than 45 include focal or multifocal hyperfluorescence of leakage from RPE, multifocal choroidal hyperpermeability in the middle phase, silhouetting of the larger choroidal vessels in the late phase, and no focal or plaque CNV.
With the rapid development of ophthalmic imaging methods, there are many ways of examination in the diagnosis and treatment of fundus diseases, such as FFA, ICGA, FAF, OCT and emerging blood vessels by OCT angiography in recent years. Multi-model image can understand the changes of anatomical structure and function of different levels and parts of the fundus from different aspects. A variety of imaging examinations are combined and complemented each other, which makes us have a further understanding of the location and pathological changes of many fundus diseases. But at the same time, the emergence of multi-modal images also brings a series of problems. How to standardize the use of multi-modal imaging platform to better serve the clinic is a problem that ophthalmologists need to understand.
Optical coherence tomography angiography (OCTA) is a new diagnostic technique in recent years based on the optical coherence tomography. It is one of the fastest developing imaging examinations in ophthalmology. Compared with the classic diagnostic methods of fundus fluorescein angiography and indocyanine green angiography, OCTA show the ability to reveal blood flow non-invasively. With the development of modern medical detection technology, the requirement for ophthalmic diagnosis is raised, and many new measurement methods begin to apply in research and clinical, which makes the detection methods in the field of ophthalmology more accurate and comfortable. OCTA is a novel and noninvasive flow imaging technique, and it has the advantages of high resolution, fast scanning, as w ell as quantifying blood flow. Meanwhile, this technique can not only qualitatively analyze the shape of ocular blood vessels, but also be able to measure the ocular blood vessels and blood flow non-invasively, as well as to assess the depth of lesions. At present, with a wide clinical application in ophthalmology, OCTA still has its own superiority and weakness, but with the development of technology. It is believed that the OCTA will be expected to replace the relevant invasive examination methods and become a new tool for ophthalmic imaging.
Objective To observe the characteristics of spectraldomain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF) in acute and chronic central serous chorioretinopathy (CSC).Methods Seven-three eyes of 67 patients with CSC diagnosed by slit-lamp microscopy, fundus photochromy, fundus fluorescein angiography (FFA) and indocyanine green angiography were enrolled in this study. All the patients were examined for FAF and SD-OCT. The patients were divided into acute CSC group (37 patients, 37 eyes) and chronic CSC group (30 patients,36 eyes) according to the clinical features and FFA images. According to the OCT feature in retinal detachment area, they were divided into three categories, which including intact, non-intact and atrophy outer segment, respectively. According to the FAF characteristics, they were divided into hyper-FAF, hypo-FAF and mixed type, respectively. The characteristics of SD-OCT and FAF of both acute and chronic CSC patients were evaluated and analyzed. Results In acute CSC group, 19 eyes (51.35%) were hypo-FAF, 18 eyes (48.65%) were hyper-FAF. In chronic CSC group, two eyes (5.56%) were hypo-FAF, 16 eyes (44.44%) were hyper-FAF, and 18 eyes (50.00%) were mixed type. There was significant difference between both groups (chi;2=31.872,P=0.000). The SD-OCT results showed that in acute group, 15 eyes (40.54%) were intact outer segment, 18 eyes (48.65%) were non-intact outer segment, and four eyes (10.81%) were atrophy outer segment. In chronic group, five eyes (13.89%) were intact outer segment, 17 eyes (47.22%) were non-intact outer segment, and 14 eyes (38.89%) were atrophy outer segment. There was significant difference between both groups (chi;2=10.572,P=0.005). Conclusions The FAF characteristics of acute and chronic CSC mainly manifests hypo-FAF and mixed type, respectively. The OCT characteristics of acute CSC mainly manifests intact outer segment and non-intact outer segment, but non-intact outer segment and atrophy outer segment in chronic CSC.
The pathogenesis of polypoidal choroidal vasculopathy (PCV) is still controversial. More evidence of clinical and basic research is needed to distinguish PCV from an independent disease to a subtype of age-related macular degeneration. Not only that, there are also many puzzles in the diagnosis, treatment options and prognosis of PCV. In addition to these common problems, we also face a large population with risk factors, a large number of PCV patients with multiple and complex challenges in China. There is a long way to go to reduce the damage effects of PCV on visual function. To fulfil this goal, we need make full use of the huge resources of PCV patients and turn these challenges into opportunities, and contribute the improvement of diagnosis and better understanding of PCV pathogenesis.
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.
