Objective To observe the etiologies and vision outcomes of inpatients with no light perception (NLP). Methods A total of 367 inpatients (430 eyes) with NLP in Zhongshan Ophthalmic Center were enrolled in this study. The visual acuity examination followed the international standard methods. NLP was detected by torch light in a dark room and the pupil light reflection state was also considered. The patients included 208 males (235 eyes) and 159 females (195 eyes). Sixtythree patients (126 eyes) were bilateral and 304 patients (304 eyes) were unilateral cases including 159 right eyes and 145 left eyes. The patients' ages ranged from 2.5 to 86.0 years, with a mean age of (40.85plusmn;18.03) years. All the patients were treated according to their diseases. The ratio of different eye disease and visual outcome were recorded and analyzed. Results Among 430 eyes, there were 157 eyes (36.5%) with optic neuritis, 68 eyes (15.8%) with uveitis, 54 eyes (12.6%) with retinal vascular disease, 35 eyes (8.1%) with ischemic optic neuropathy, 29 eyes (6.7%) with traumatic optic neuropathy, 28 eyes (6.5%) with optic atrophy, 18 eyes (4.2%) with trauma, 17 eyes (4.0%) with radiation optic neuropathy, 10 eyes (23%) with glaucoma, five eyes (1.2%) with retinal detachment, four eyes (0.9%) with compressive optic neuropathy, two eyes (0.5%) with orbital apex syndrome, two eyes (0.5%) with hysteria, and one eye (0.2%) with orbital cellulitis. After active treatment, 269 eyes (62.6%) remained NLP, 161 eyes (37.4%) got improved visual acuity, including light perception- 0.02 in 74 eyes (17.2%), ge;0.02-＜0.05 in 25 eyes (5.8%), ge;0.05 -＜0.1 in 14 eyes (3.3%), ge;0.1 -＜0.3 in 11 eyes (2.6%) and ge;0.3 in 37 eyes (8.6%). Conclusions The main causes of nonsurgical and non-trauma NLP are retinal disease and optic neuropathy. Some patients with NLP may restore useful vision if they received prompt referral and active intervention.
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)
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)
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)
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 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)
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 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 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.