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 investigate the clinical characteristic of ocular fundus complications in systemic lupus erythematosus (SLE). Methods In 25 cases of SLE with the ocular fundus complications, the ocular fundus, the other ocular tissues, general lesions，and antinuclear antibody (ANA ), anti-double-stranded DNA（anti-dsDNA）, complement 3 (C3), complement 4 (C4)and erythrocyte sedimentation rate(ESR) were analyzed retrospectively. Results In the 25 cases, “classic” SLE retinopathy in 15 (25 eyes), retinal vein occlusion (RVO) in 9 (12 eyes), RVO combined with retinal arter y occlusion in 1 (2 eyes), exudative retinal detachment in 1 (2 eyes), vitreous hemorrhage combined with neovascular glaucoma in 1 (1 eye), and optic discedem a except RVO in 3 (6 eyes) were found. Nine cases accompanied with other ocular signs and 21 with general lesions. Positive ANA and anti-dsDNA and elevated ESR in all of the patients, decreasing C3 in 19, and C4in 17 were found.Conclusions SLE can cause serious ocular fundus complications accompanied with other ocular signs. Regular ophthalmic examination should be performed on the patients with SLE to detect and treat the ocular complications promptly. (Chin J Ocul Fundus Dis，2004，20：206-208)
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.
Objective
To detect the value of three-dimensional (3D) ultrasound diagnosis in common ocular fundus diseases.
Methods
Two-dimensional (2D) images of 38 patients with common ocular fundus diseases were three-dimensionally reconstructed via 3D ultrasound workstation. The 3D images reflecting the ocular diseases were analyzed.
Result
In 38 patients with common ocular fundus diseases, there was vitreous hemorrhage in 16 patients, retinal detachment in 12, choroidal detachment in 5, and intraocular space occupying lesion in 5. Compared with the 2D images, 3D reconstructed images reflect the lesions more intuitionistically, displayed the relationship between the lesions and the peripheral tissues more clearly, and revealed the blood flow more specifically. During a scanning examination, 3D reconstructed technology provided the diagnostic information of section of X, Y and Z axises simultaneously which shortened the time of examination; the condition of any point of lesions and the relation between the lesion and the peripheral tissues could be gotten by the tools like cut and chop provided by 3D imaging software itself, which avoided detecting the same lesion with different angles and lays and proved the diagnostic efficacy.
Conclusions
3D ultrasound diagnosis is better than 2D in diagnosis of vitreous, retina, choroid, and intraocular space occupying lesion. 3D ultrasound diagnosis is a complementarity for the 2D one, and the Z axis changes the former observational angles which may provide the new way of precise diagnosis.
(Chin J Ocul Fundus Dis, 2005, 21: 381-383)
Objective
To investigate the clinical characteristics and mechanisms of ocular manifestations
related to carotid artery stenosis.
Methods
The general clinic data and related ocular manifestations in 124 patients with
carotid artery stenosis were retrospectively.
Results
In the 124 patients, 36 (29%) had ocular manifestations, and 28 (22. 6 %)
complained the ocular discomfort as the first symptom. Among the 36 patients,
31 patients (86.1%) had been disclosed unilateral or double stenosis of internal
carotid artery by carotid Doppler ultrasound examination, and the result of digital subtract angiography revealed middle and severe degree of internal carotid artery stenosis in 8 and 23 patients respectively. There was no statistic difference of incidence of ocular manifestations between 67 patients of severe internal carotid artery stenosis and 34 patients with middle one（chi;２test,P =0.266 2，P＞0.05). The ocular manifestations included amaurosis fugax (52.8%),acute decline or loss of the visual ability and defect of visual fields (36.1%), binocular diplopia (13.9%), ptosis (13.9%), and persistent high intraocular pressure(2.8%) one patient might had several ocular manifestations simultaneously. In 36 patients, central retinal artery occlusion had been diagnosed in 4, venous stasis retinopathy in 1,central or branch retinal vein occlusion in 6, neovascular glaucoma in 1, and anterior ischemic opticneuropathy in 2. One patient with double occlusion of internal carotid artery didnrsquo;t have any ocular manifestation.
Conclusion
Carotid artery stenosis, especially internal carotid artery may lead to acute or
chronic ocular ischemic lesions, and the occurrence of ocular manifestations in
chronic ocular ischemic lesions relates to compensa tion of collateral circulation；patients with ocular ischemic lesions are recomm end to undergo a routine carotid artery examination.
(Chin J Ocul Fundus Dis, 2006,22:376-378)
Objective
To explore the ocular clinical features in patients with cranial venous sinus thrombosis (CVST).
Methods
The clinical data from 118 inpatients with CVST diagnosed by digital subtraction angiography (DSA).The patients included 53 males and 65 females with the sexual rate of1 :1.2. The initial onset age of the patients ranged from 15 to 67; 20-45 are the most common onset ages, and 30-40 reached the peak. The CVST patients were divided into 3 groups a c cording to the onset styles, including acute onset (within 2 days), subacute ons et (2 days to 1 month), and chronic onset (more than 1 month). The features of o cular and systemic manifestations was analyzed. A total of 58 out of 118 patient s with CVST were followed up for about 1 year after the diagnosis and treatment.
Results
Among the 118 patients with CVST, 25 (21.2%) had the ocular symptoms as the initial onset, 36 (305%) had ocular syndrome with other symptoms, and 57 (48.3%) had non ocular symptoms. There was no statistical significance among each group. The most common chief complains were the blurred and decreased vision (in 61 eyes, occupying 85.9% of all the chief complains). The most common symptom was papilloedema (in 57 eyes, accounting for 48.3% of all the patients with CVST). In 58 follow-up patients, 13 (22.4%) had serious visual decrease due to the optic atrophy. All the ocular manifestations related to the intracranial hyper tension caused by CVST.
Conclusions
In patients with CVST, 1/3 have ocular symptoms, and 1/5 have ocular symptoms as the initial manifestation. Visual decrease and papilloedema are the common symptoms in patients with CVST. We should especially advert to the patients with intracranial hypertension with unknown origins.
(Chin J Ocul Fundus,dis,2006,22:373-375)
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.
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.
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.
