Objective To observe the images characteristics of optic coherence tomography (OCT) on macular edema in retinal vein occlusion （RVO）, and to explore the application value of Fourier-domain (FD) OCT in RVO macular edema.Methods The clinical data of 91 RVO patients (92 eyes) were retrospectively analyzed. All patients received examinations of best corrected visual acuity （BCVA）, direct or indirect ophthalmoscope, slit lamp ophthalmoscope, and 60 patients （60 eyes）also underwent fundus fluorescein angiography. There were 35 patients （35 eyes）with central retinal vein occlusion （CRVO） and 56 patients（57 eyes）with branch retinal vein occlusion (BRVO). The type and involved layer of macular edema, and subtle structure changes of the outer retina were observed through the horizontal and vertical scanning lines through the foveal under the model of 5 Line Raster. The foveal thickness (FT), height of serous retinal detachment, width and height of foveal cystoid spaces and thickness of foveal photoreceptor layer were measure manually. The central fovea thickness (CFT), volume (V) and average thickness (AT) were collected from the OCT readings. Further analysis was focused on different type of the edema,characteristics of OCT images and the relationship between the different type of the edema and vision.Results The manifestation of macular edema was variable by OCT scanning, and can be categorized into diffuse edema (spongelike thickening of the retina with reduced reflectivity) 12 patients （12 eyes, 13.0%), cystoid edema (multicystlike space in the neuroretina separated by tissue column) 21 patients （21 eyes, 22.8%) and serous retinal detachment (separation of neuroretina and retinal pigment epithelium by space with low reflectivity) 37 patients （37 eyes, 40.2%) and mixed edema（mix of the above several edema form）58 patients （59 eyes, 64.1%）. The edema can happen at different layers of the neuroretina, including outer nuclear layer/outer plexiform layer (ONL/OPL) in 92 patients （92 eyes, 100.0%), inner nuclear layer (INL) in 68 patients （68 eyes, 74.2%）and ganglion cell layer (GCL) in 23 patients （23 eyes, 25.0%）.Statistic analysis revealed that BCVA was related to the integrity of IS/OS （r=3.778 6, P=0.000）, ELM （r=4.462 2,P=0.000）and FT (r=-0.4513, P=0.000 ), but not related to CFT （r=0.269 7, P=0.121）, V（r=0.0528, P=0.054）and AT (r=0.060 8,P=0.075). Conclusion he manifestation of macular edema associated with RVO is variable. FD-OCT can demonstrate its fine details, and some changes are related to visual acuity. Therefore, the value of quantitative analysis in these patients needs further confirmation.
ObjectiveTo identify the pathogenic mutation in a three generation Chinese family with low penetrance retinoblastoma (RB). Methods8 from 9 family members received complete ophthalmic examinations. DNA was extracted from 6 family members. Using exon combined target region capture sequencing chip to screen the candidate disease-causing mutations. Sanger sequencing were used to confirm the disease-causing mutation. ResultsAmong 9 family members, the proband (Ⅲ2) was bilateral RB, Ⅲ1 was unilateral RB, Ⅲ3 was dead for bilateral RB. Normal fundus were observed in the left eye ofⅢ1 and the eyes of other family members except the proband. Sequence analysis of RB1 gene revealed a missense mutation c.1981C > T (p.Arg661Trp) in the proband and two carriers (Ⅱ2, Ⅱ3), but not in the two normal subjects (Ⅱ1, Ⅱ4). We suspect that the RB penetrance in the family was 50%. ConclusionsThere is a missense mutation c.1981C > T in a Chinese family with low penetrance RB. The RB penetrance is 50%.
ObjectiveTo observe the application value of RetCam Ⅲ in the diagnosis of retinoblastoma (RB). MethodsThe clinical data of 125 eyes from 94 patients with RB were retrospectively analyzed. According to the International Intraocular Retinoblastoma Classification, the results of binocular indirect ophthalmoscope and RetCam Ⅲ was compared. The consistency between RetCam Ⅲ and binocular indirect ophthalmoscope was analyzed by Kappa test. The detectable rates of tumor between binocular indirect ophthalmoscope, RetCam Ⅲand B scan ultrasound were comparatively analyzed. ResultsBy binocular indirect ophthalmoscope, there were 18 eyes (14.4%) in stage A, 15 eyes (12.0%) in stage B, 10 eyes (8.0%) in stage C, 28 eyes (22.4%) in stage D, and 54 eyes (43.2%) in stage E. Using RetCam Ⅲ, the classification was 18 eyes (14.4%) in stage A, 16 eyes (12.8%) in stage B, 11 eyes (8.8%) in stage C, 27 eyes (21.6%) in stage D, and 53 eyes (42.4%) in stage E. The RB classification of RetCam Ⅲ was quite consistent with binocular indirect ophthalmoscope (Weighted Kappa Coefficient=0.979 8, 95% confidence interval=0.960 1-0.999 5). A total of 150 tumors from stage A-D were observed by binocular indirect ophthalmoscope. In which, 147 tumors (98.0%) were found by RetCam Ⅲ, 122 tumors (81.3%) were found by B scan ultrasound. No serious complication was found in these patients. ConclusionsRetCam Ⅲ can detect RB of different stage in clinic. It is quite consistent with binocular indirect ophthalmoscope.
ObjectiveTo analyze the clinical features, treatment and prognosis of asymptomatic patients with retinoblastoma.MethodsA retrospective series of case study. Eight asymptomatic patients (11 eyes) with the diagnosis of retinoblastoma by screening enrolled in Department of Ophthalmology of The Eye-ENT Hospital of Fudan University from January 2006 to March 2019 were included. There were 6 males and 3 females ranging from 2 days to 20 months, with a median age of 6 months. Five patients were unilateral retinoblastoma while 3 patients were bilateral. Based on the International Classification of Intraocular Retinoblastoma, 4 eyes were stage A, 3 eyes were stage B and 4 eyes were stage C. One patient had family history. Four patients were evaluated the Rb1 mutation. Routine ophthalmic examinations and ultra-wide field fundus imaging were performed on the 16 parents and 3 siblings of the 8 patients. Systemic intravenous chemotherapy was performed using the Carboplatin, Vincristine, Etoposide protocol, intra-arterial chemotherapy using Carboplatin and Melphalan, and local treatment involved cryotherapy and transpupillary thermotherapy. The mean follow-up time is 47.25 months.ResultsNone of the 8 children had any ocular symptoms. Six patients received intravenous chemotherapy (5-6 times), 1 patient received intra-arterial chemotherapy (3 times), and 1 patient just received local treatment. Among the 11 eyes, 9 eyes were treated with local cryotherapy and 8 eyes were treated with transpupillary thermotherapy. During the follow-up period, 2 patients had new tumor, and the average time was 6.3 months after the last chemotherapy. At the last follow-up, the tumor disappeared in 11 eyes, remained stable in 11 eyes. The eye protection rate was 100% (8/8) for patients without eyeball excision. The best corrected visual acuity was 0.1 for 3 eyes and 1.0 for 5 eyes. Three eyes were not found. One heterozygous mutation of Rb1 gene [1c.35_69del (p.T12fs)] was identified in 1 patient, and the other 3 patients were not detected. One had bilateral bulbar tuberculosis of the 16 parents, 1 had bilateral RB of the 3 siblings. They were the mother and brother of a child with bilateral RB.ConclusionsFundus screening is helpful for the detection of early RB. The eye protection rate is high and the long-term vision prognosis is good after systemic or topical chemical drugs (IVC, IAC) and ocular topical treatment (cryopreservation and transpupillary thermotherapy).
Objective To evaluate the prognosis of retinopathy of prematurity (ROP) following the screening and treatment guidelines of the Chinese Ministry of Public Health. Methods From December 2003 to December 2010, 1379 premature infants diagnosed with ROP were followed by binocular indirect ophthalmoscopy or fundus photography using RetcamⅡ digital camera. For the stage 1 ROP, eyes were followed every 2 weeks until the ROP regressed. For the stage 2 ROP or pre-threshold disease, eyes were followed weekly. If the ROP decreased, eyes were followed every two weeks until the ROP regressed completely. For the stage 3 ROP or acute progressive ROP (AP-ROP), eyes were followed 2-3 times weekly. If the ROP progressed to threshold or type 1 pre-threshold disease, laser therapy was performed within 72 hours. After laser treatment, eyes were followed every 1 -2 weeks. Laser or cryotherapy was conducted when the ROP progressed after first treatment. Scleral buckle and vitrectomy with closed triple incisions was conducted when the ROP progressed to stage 4 and stage 5. The period the infants were followed ranged from 6 months to 2 years (average 152.3 days). ResultsA total of 2758 eyes of 1379 infants were diagnosed with ROP. The gestational age range was 26 . 35 weeks (average 30.6 weeks) and the birth weight of 800-2200 grams (average 1424.6 grams). Four hundred eyes (14.5%) of 206 infants with threshold or type 1 pre-threshold disease were given laser treatment. Three hundred and forty-five eyes (86.2%) completely regressed, and 55 eyes (13.8%) progressed to unfavorable structural outcomes. All 2358 eyes that did not reach threshold or type 1 prethreshold disease regressed completely. The total regression rate of our study was 980%. The incidence of unfavorable structural outcomes was 2.0% including stage 4 in 32 eyes (1.2%) and stage 5 in 13 eyes (0.5%). The retina reattatched in all 6 eyes treated with scleral buckle but macular traction remained at the optic disc. In the 39 eyes treated using vitrectomy with or without lensectomy, the retina reattached completely in 17 eyes at stage 4a. In 15 eyes at stage 4b, the retina reattached completely in 10 and remained detached in 5 eyes. In the 13 eyes at stage 5, the retina reattached completely in 4, and reattached mostly in 1 eye. Conclusion The incidence of severe ROP leading to unfavorable structural outcomes can be effectively reduced by screening and timely treatment.
Objective To observe the microvessel density（MVD）and expression of vascular endothelial growth factor (VEGF) in retinoblastoma（RB）before and after comprehensive treatment and explore its clinical correlations with tumor infiltration and recurrence. Methods Sixty-one paraffin specimens of RB were divided into enucleation without comprehensive treatment group (untreated group，52 cases), planned enucleation before comprehensive treatment group (planned enucleation group，six cases) and tumor recurrence after comprehensive treatment group（recurrence group，three cases）. There were optic nerve invasion in 19 cases，no optic nerve infiltration in 33 cases. The MVD and VEGF expressions of 61 paraffin specimens were detected by streptavidin biotin-peroxidase (SP) immunohistochemistry with monoclonal antibody of CD34 and VEGF. Real time PCR was performed for the VEGF expression of planned enucleation group and recurrence group.Results In the untreated group，the MVD and VEGF expression of optic nerve infiltration cases were significantly higher than those of cases without optic nerve infiltration（t=-2.4685, P=0.017; chi;2=8.416 6，P=0.032 8）.Tumor microvessel regression, decreased MVD, occlusion and hyaline changes of blood vessels were observed in the planned enucleation group in the course of systemic chemotherapy. Many neovascularized capillaries and increased MVD were observed in tumor tissues of the recurrence group. The VEGF expression of planned enucleation group was lower than that in the recurrence group.Conclusions There was no significant difference on VEGF expression in RB between with and without comprehensive treatment. The increasing MVD and VEGF expression of cases without comprehensive treatment were related to the optic nerve infiltration. And the increasing MVD may also play an important role in RB recurrence after comprehensive treatment.