Objective To investigate the morbidity of ocular fundus diseases in Tibetan above 40 in Maqin county, Qinghai Province. Methods A total of 2511 Tibetan above 40 in Maqin county, Qinghai Province were seelected by cluster sampling method. The sampling survey of ocular fundus diseases was performed on the individuals with indirect ophthalmoscope, and the results were compared with the domestic existing epidemiological data. Results Two hundred and thirty five (9.35%) cases were found to have abnormal ocular fundus, and the blindness rate due to the abnormal ocular fundus was 20.5% (80/391 eyes) which was lower than the blindness rate due to cataract (52.5%). Low vision and blindness led by ocular fundus diseases were found in 155 eyes (65.96%)，including 74(47.74%) with age-related macular degeneration (AMD) and 23 (9.79%) with retinoangiopathy. Conclusions The morbidity of ocular fundus disorder is higher in high plateau than that in backland; AMD and retinoangiopathy are the main diseases leading to blindness. (Chin J Ocul Fundus Dis, 2006, 22: 321-323)
Inherited eye disease is a heterogeneous group of eye disorders caused by genetic defects, which has many genetic characteristics, such as multiple inheritance modes and numerous gene variation types. Over the past few decades, genetic testing has improved significantly, with more and more known disease-causing gene variants identified. With the rapid development of high-throughput sequencing technology, clinical diagnosis and treatment of eye genetic diseases have been accelerated, and molecular diagnosis of eye genetic diseases has become an important step in accurate diagnosis and treatment. How to correctly select and evaluate each kind of genetic testing technology, reasonably standardize the use of genetic testing technology, and provide patients with more accurate genetic counseling are problem that clinicians need to seriously consider.
ObjectiveTo determine the pathogenic gene mutation in a family with incomplete congenital quiescent night blindness (CSNB) of Schubert-Bornschein type. MethodsA retrospective clinical study. In February 2021, one patient and his parents and elder brother from a Han Chinese incomplete CSNB of Schubert-Bornschein type family diagnosed by clinical and genetic examination at Henan Provincial People's Hospital were included in the study. The patient’s medical history, family history were inquired; best corrected visual acuity (BCVA), color vision, fundus color photography, full-field electroretinogram (ERG), and frequency domain optical coherence tomography (OCT) were examined in detail. Five ml of the subject’s peripheral venous blood was collected and the whole genome DNA was extracted. The genomic DNA of the subject was library constructed, and all-exon probes were polymerized for capture. The suspected pathogenic mutation site was verified by Sanger, and the pathogenicity of the gene mutation site was determined by parallel bioinformatics analysis. ResultsThe BCVA of both eyes of the proband (Ⅱ2) was 0.4; the color vision test could not recognize the red color. Fundus examination showed no obvious abnormalities. The retina thickness in the macular area of both eyes was slightly thinned. ERG examination of the whole field showed that the amplitude of ERG b wave was significantly reduced under the stimulation of binocular dark adaptation 3.0 and showed a negative waveform. The mother of the proband (Ⅰ2) had normal BCVA, color vision, fundus color photography, and frequency domain OCT examination. The full-field ERG examination showed that the amplitude of each eye reaction was slightly reduced, and the amplitude of the dark adaptation shock potential was significantly reduced. Genetic testing showed that the proband (Ⅱ2) had a c.1761dupC hemizygous mutation in exon 14 of the voltage-dependent calcium channel α1F subunit gene (CACNA1F gene). The results of protein sequence homology analysis showed that the site was highly conserved in multiple species; the results of bioinformatics analysis showed that the CACNA1F gene c.1761dupC (pY588fs) subsequently had a frameshift mutation and became a stop at position 10. Codons appear translational termination in the conserved regions of the protein. According to the standards and guidelines of the American College of Medical Genetics and Genomics, the mutation was judged to be a possible pathogenic variant. The mother of the proband (Ⅰ2) was a carrier of this site mutation. The clinical and genetic test results of the father and elder brother of the proband were not abnormal. ConclusionCACNA1F gene c.1761dupC is the pathogenic mutation site of the Schubert-Bornschein type incomplete CSNB family.
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 evaluate the diagnostic value of panoramic 200 scanning laser ophthalmoscope for retinal detachment. Method Images of ocular fundus of the patients with retinal detachment were obtained by panoramic 200 scanning laser ophthalmoscopy, which were compared with the results of binocular indirect ophthalmoscopy (BIO). The extent of the retinal detachment, the occurrence of retinal hole or not, and the proliferation were observed. Any discrepancies of the results of the two methods were then analyzed. Results In the images from 75 eyes of 71 patients with retinal detachments which were obtained by panoramic 200 scanning laser ophthalmoscopy, recurrent retinal detachments was found in 3 patients (3 eyes), single retinal detachment was in 13 patients (16 eyes) inc luding intercurrent retinal cyst in 1 patient (1 eye), intercurrent retinal hole was in 43 patients (43 eyes), and intercurrent pre-or sub-retinal proliferation was in 14 patients (15 eyes) (4 eyes having retinal hole simultaneously). The results of panoramic 200 scanning laser ophthalmoscopy and BIO were accordant in 53 patients (56 eyes) and inconsistent in 18 patients (19 eyes) due to the loss of peripheral small retinal holes by panoramic 200 scanning laser ophthalm oscopy. The results of the follow-up examination of 16 patients were accordant with the clinical records. Conclusion Panoramic 200 scanning laser ophthalmoscope has the advantages of non-mydriasis, speediness, and wide view field, and can save external records and provide high-resolution images; it is a valuable diagnosis method for retinal detachment. (Chin J Ocul Fundus Dis, 2006, 22: 317-320)
The human hereditary retinal degeneration is one of the main cause of irreversible blindness in the world. the mechanisms leading to retinal photoreceptor degeneration are not entirely clear. However, microglia acting as innate immune monitors are found to be activated early in retinal degeneration in many retinitis pigmentosa animal models. These activated microglia are involved in phagocyte rod cell fragments of degenerated retina, and also produce high levels of cytotoxic substances such as pro-inflammatory cytokines and chemokines, which aggravate the death of adjacent healthy photoreceptor cells. It suggests that microglia activation plays an important role in photoreceptor degeneration. At the same time, a series of studies have confirmed that some drugs can prevent or reduce neuronal death and slow the occurrence and progression of retinal degeneration by interfering with abnormal activation of microglia. It is expected to be a new choice for the treatment of hereditary retinal degeneration.
Inherited retinal diseases (IRD) are a group of genetic disorders with high genetic and clinical heterogeneity. Patients with IRD may have their clinical diagnosis confirmed by genetic testing. Over the past 30 years, rapid advances in molecular genetics have raised the disease-causing gene variant detection rate and the accuracy of genetic testing, which provide hope to patients. The genetic diagnosis of patients with IRD is complicated due to the overlapping clinical phenotypes, and the fact that different variants lead to different phenotypes and severity even of the same gene. It is very important to overall evaluate the clinical phenotype of patients, precisely select genetic testing methods, and reasonably define disease-causing genes and variants during genetic diagnosis, which can guide the patient's subsequent treatment and provide genetic counseling.
Purpose To investigate the blood dynamic feature of choroid in normal eyes. Methods Indocyanine green angiography (ICGA) was performed in each of fifty consecutive normal eyes. Results The earliest fundus fluorescence emerged at the mean timiest fundus fluorescence emerged at the mean time of (14.25plusmn;3.59) seconds,it represented the beginning of filling of choroidal arteries located at the posterior pole.The irrigation of choroidal veins appeared at the mean time of (15.03plusmn;3.44) seconds.At the time threre was the overlapping imaging appearance of choroisal arteries and veins.The most hyperfluorescent areas appered at the mean time of(16.75plusmn;3.78) seconds with definite shapes located at the posterior pole,and this stood for the fluorescence stage of choroidal arteries,veins and capillaries.The fluorescence of choroidal vein began to weaken at 11prime;58Prime;15plusmn;2prime;39Prime;86,and revealed the imaging of late stage of choroidal veins.The latest stage of ICGA was at 22prime;13Prime;22plusmn;3prime;30Prime;55,and presented obscure fluorescence. Conclusion The measurement results and fluorescent features of ICGA of normal eyes can offer consulted bases for the clinical diagnosis of the choroidal diseases. (Chin J Ocul Fundus Dis,1998,14:68-71)
Objective To observe the changes of intraocular pressure (IOP) after intravitreous injection wih triamcinolone acetonide (TA) and their affected factors. Methods The clinical data of 125 patients (125eyes) who had undergone intravitreous injection with TA were retrospectively analyzed. The patients (52 males and 73 females) aged from 17 to 83 years with the average age of 56.5. There were 49 patient (39.2%) with diabetic retinopathy (DR), 56 (44.8%) with retinal vein occlusion (RVO), and 20 (16.0%) with exudative age-related macular degeneration (AMD). One day before the treatment, IOP was measured by Goldmann applanation tonometry, and the basic IOP was 7~31 mm Hg (1 mm Hg=0.133 kPa) and the average IOP was (14.69plusmn;3.72) mm Hg. The patients were divided into two groups according to the basic IOP:below 15 mm Hg group (n=64) and 15 mm Hg or above group (n=61). All of the patients underwent intravitreous injection with 4mg TA. IOP was measured 1 day, 3 days, 1 week, 2 weeks, and 1 month after the treatment in the same way, respectively, and later was measured once every 1 month. The follow-up period was 3~21 months with the mean of 5 months. The elevation of IOP would be defined as the pressure of 21mmHg or higher. The changes of IOP in patients before and after the treatment, and with different diseases and ages were analyzed. Results Thirty-six patients (28.8%) had elevation of IOP after the treatment, out of whom 97.2% had the elevation within 3 months after the injection and decreased to the basic level 7 months after the injection. In these patients, there were 11 (17.19%) in the below 15 mm Hg group and 25 (40.98%) in 15 mm Hg or above group, and the difference between the two groups was statistically significant (P＜0.01）. During the followup period, the mean maximum IOP was (20.09plusmn;7.58) mmHg, which was 5.43 mmHg higher than that before the treatment（P＜0.001）. The mean maximum IOP of 53 patients (42.4%) after the treatment was 5 mm Hg higher than that before the treatment. The mean maximum IOP during the followup period was （18.19plusmn;4.73）mmHg in DR group，（22.50plusmn;9.30）mmHg in RVO group, and（18.12plusmn;6.09）mmHg in AMD group. The occurrence of the elevation of IOP in RVO group was obviously higher than that in the other 2 groups (P＜0.01）. The result of regression analysis showed that age was correlative with the elevation of IOP after the treatment: more risks of occurrence of high IOP were found in younger patients (P=0.000). Conclusion Elevation of IOP after intravitreous injection with TA is common, which is correlative with the basic IOP, age, and pathogeny. After the intravitreous injection with TA, the elevation of IOP often occurs in patients with high basic IOP before treatment, younger age, and RVO. (Chin J Ocul Fundus Dis, 2007, 23: 115-117)
Inherited retinal diseases (IRDs) are a group of severe retinal degenerative diseases leading to permanent visual impairment. IRDs are the major cause of irreversible blindness in children and working age groups. Gene therapy is a new clinical treatment method and currently the only clear and effective treatment for IRDs, while, there are still risks in clinical research and application. How to standardize perioperative management and reduce the potential risks of treatment is one of the keys to ensure the safety and effectiveness of treatment. However, there is no systematic and standardized guidance on the perioperative management for IRDs gene therapy. Therefore, in order to standardize the perioperative management, the Fundus Disease Group of Ophthalmology Society of Chinese Medical Association and Chinese Medical Doctor Association organized domestic experts to put forward standardized opinions on the perioperative management of IRDs gene therapy in China after repeated discussion and combined with domestic and foreign research experience, so as to provide clinicians with reference and application in clinical research and practice.