Adult-onset foveomacular vitelliform dystrophy (AFVD) is characterized by gradually loss of vision, subretinal vitelliform macular lesions and retinal pigment epithelium (RPE) atrophy. The electrooculogram (EOG) is usually normal or reduce slightly. On optical coherence tomography (OCT), there are vitelliform substance which deposited between the photoreceptor layer and the RPE layer, and thinner outer nuclear layer above these deposits. OCT angiography can show the superficial and deep retinal capillaries plexus (DCP) above the yolk-like deposits, the choroidal capillary blood flow is reduced and the DCP blood flow is increased near macular. On indocyanine green angiography (ICG), there is choroidal neovascularization under vitelliform substance at early stage and fluorescence leakage in the corresponding retinal region at late stage. There is no effective treatment for AFVD at present, monogenic gene therapy is the most worth looking forward to. Understanding AFVD clinical manifestations, multi-mode imaging features and new advances in treatment can provide a reference for diagnosis and treatment options
Objective To observe the fundus characteristics of human immunodeficiency virus with acquired immune deficiency (HIV/AIDS). Methods A total of 1041 HIV/AIDS patients were enrolled in this study. The patients included 882 males (88.70%) and 159 females (11.30%). The patientsprime; ages ranged from 12 to 73 years, with a mean age of 41 years. The median time of HIV/AIDS diagnosis was 12 months, which ranged from one month to 10 years. HIV infection was acquired through sexual contact, intravenous drug use, blood transfusion or mother-to-child transmission in 475 patients (45.63%), 508 patients (48.80%), 44 patients (4.25%) and 14 patients (1.34%), respectively. Ocular examinations (vision acuity, slit lamp microscope and fundus examination) were performed on recruited patients with HIV/AIDS. Additional exams (intraocular pressure, fundus photography and fundus fluorescein angiography) were done if abnormal ocular fundus was found. The ocular manifestations were diagnosed according to clinic reference. Results Ocular manifestations of HIV/AIDS were detected in 247 patients (23.73%). Of 247 patients, the most common ocular manifestation was HIV retinopathy, which was present in 132 patients (53.44%); cytomegalovirus retinitis (CMVR) was second place, affecting 70 participants (28.34%). Clinic findings of HIV retinopathy included retina microaneurysm, hemorrhage along the blood vessel with cotton-wool spots, while irregular dry edge, granular appearing border, were present in CMVR, and the optic nerve may be affected. Fluorescein angiogram of HIV retinopathy demonstrated that hemorrhage was shown as sheltered fluorescence, with b fluorescence without leakage in center of hemorrhage. Fluorescein angiogram of CMVR demonstrated significant hemorrhage appearing as sheltered fluorescence with leakage and/or transparent fluorescence. The optic disk and lesioned area were stained with fluorescence. Conclusions There are various HIV/AIDS related ocular manifestation. HIV retinopathy and CMVR are common ocular manifestations. The main clinical findings of HIV retinopathy are hemorrhage and/or cotton-wool spots, while irregular granular appearing edges and hemorrhage were observed in CMVR.
Objective
To observe the clinical characteristics of demyelinating optic neuritis (DON) in Chinese children under the age of 16.
Methods
A retrospective review of the medical charts of 42 pediatric patients with DON was conducted in this study. Twenty-two patients (52.4%) were male, and 20 patients (47.6%) were female. The patients aged from 3 to 15 years, with the mean age of (9.5±2.3) years. There were 35 bilateral patients and 7 unilateral patients. Twenty-seven patients (64.3%) had prodromal symptoms before onset. All patients underwent visual function and imaging tests, such as best corrected visual acuity (BCVA), fundus photography, visual evoked potential (VEP), visual field, MRI. The patients were tested for serum levels of antibodies for aquaporin 4 (AQP4) and myelin oligodendrocyte glycoprotein (MOG) with a cell-based assay. All patients were received corticosteroid therapy. The mean follow-up was (1.17±0.42) years. The children who had coordination ability and with BCVA≥0.3 were received examination of Humphery automatic perimeter. Data were collected on the age, gender, clinical features, neuroimaging, serological specific antibodies, treatment and vision prognosis.
Results
23.8% of the children were bilateral optic neuritis in onset stages. 64.2% were recurrent optic neuritis and 83.3% exhibited bilateral diseases eventually. BCVA had decreased to ≤0.1 in 87.0%% eyes and disc swelling was observed in 77.9% eyes during the onset stages. All eyes had visual field defects and abnormal VEP exam results, with delayed latency of P100 and P2, and varying degrees of amplitude reduction. Serum AQP4 antibody and MOG antibody were tested by cell-based assay, 2/42 children (4.7%) were positive for AQP4 antibody and 5/24 children (20.8%) were positive for MOG antibody. All of anti-AQP4+ and anti- MOG+ cases relapsed. All children underwent orbital magnetic resonance imaging (MRI), 40 cases (95.2%) showed demyelination features of optic nerve, and 5 cases (11.9%) showed long segments lesion (more than 1/2 length of the optic nerve). There were 2 anti-AQP4+ cases and 3 anti- MOG+ cases from the 5 cases with long segments lesion. MRI also showed brain demyelinating lesions in 4 children (3 of them were anti- MOG+) or spinal cord demyelinating lesions in 3 children (2 of them were anti- MOG+). After treatment with glucocorticoid, visual acuity improved in all eyes, of which 84.4% with BCVA≥0.5. Forty-eight eyes of 26 children accept dynamic visual field during the course of treatment, showed the vision abnormalities associated with optic nerve damage.
Conclusions
Children under the age of 16 with DON can experience severe visual impairment, higher recurrence tendencies, and higher rate of disc involvement, but good response to glucocorticoid therapy. AQP4 or MOG antibodies positive might be concurrent with brain and (or) spinal cord demyelinating lesions and indicated a poorer prognosis.
Objectives To observe the clinical characteristics of patients with posterior scleritis. Methods Ten patients with 16 eyes diagnosed as posterior scleritis were enrolled in this study. Ten patients consisted of seven males and three females. Their age ranged from 18 to 75 years old, with a mean age of 42.0plusmn;14.7 years old. Except for two patients aged 18 and 75 years old, the other eight patients aged 33 to 55 years old. Routine eye examination was performed including visual acuity, slit lamp microscope, ophthalmoscope, B scan ultrasound, color fundus photography, fundus fluorescein angiography (FFA), orbit MRI and chest Xray. According to the B scan ultrasonic examination, these ten posterior scleritis cases were divided into diffused and nodular types. Among them, the diffused type had 8 cases (14 eyes), the nodular type had 2 cases (2 eyes). The visual acuities of ten patients were from light perception to 0.4. The blood laboratory tests were negative in all cases. The diffused posterior scleritis patients received systemic and (or) local glucocorticoid therapy. The nodular posterior scleritis patients could not be ruled out choroidal melanoma in the initial evaluation, and they underwent enucleation operation in other hospitals. Results In the 14 eyes of diffused posterior scleritis, conjunctival congestion and edema were observed in 8 eyes, eyelid edema in 2 eyes, normal eye surface in 4 eyes. In the two eyes of nodular posterior scleritis, there was no conjunctival congestion and edema or eyelids swelling. All 16 eyes performed FFA, 11 eyes had fundus posterior pole early dot-like hyperfluorescence followed by leakage of fluorescence in the late stage, two eyes had hyperfluorescence mixed with hypofluorescence in the nearby retina of the lesion, and the rest three eyes had no abnormality in FFA. In 14 eyes of diffused type posterior scleritis, B scan ultrasound showed diffused scleral thickening more than 2 mm in 10 eyes with a typical quot;Tquot; shape sign. The other 4 eyes did not show typical sign in ultrasound. In 2 eyes of nodular type, ultrasound showed nodular enhanced echo in choroid with medium internal reflection and abundant blood flow. Eleven eyes underwent orbit MRI scan, 9 eyes displayed diffused posterior sclera thickening, 2 eyes showed nodular lesions in choroid. All lesions showed low signal on T1WI, high signal on T2WI. After treatment, six diffused posterior scleritis patients recovered to normal scleral thickness. Two nodular posterior scleritis patients underwent enucleation showed granulomatous posterior scleritis and necrotic posterior scleritis in pathology. Overall, 16 eyes of 10 patients were misdiagnosed as chronic angleclosure glaucoma in 2 eyes, acute iridocyclitis in 1 eye, central serous chorioretinopathy in 2 eyes, retrobulbar neuritis in 2 eyes, and choroidal melanoma in 2 eyes. Conclusions Posterior scleritis occurs mostly in young patients. The diffused posterior scleritis patients usually has anterior segment signs including conjunctival congestion and edema or eyelids swelling, while the nodular posterior scleritis patients has normal anterior segment signs. B scan ultrasonic and MRI examination showed typical image features. Systemic and (or) local glucocorticoid therapy can effectively release the symptoms of these patients.
ObjectiveTo analyze the clinical features and prognosis of adult optic neuritis patients with positive serum myelin oligodendrocyte glycoprotein antibody (MOG-ON) or aquaporin 4 antibody (AQP4-ON).MethodsA retrospective study. From December 2015 to February 2018, in the Beijing Chaoyang Hospital of Capital Medical University and Chinese PLA General Hospital, 162 eyes of 132 patients with positive serum MOG antibody and AQP4 were included in the study. There were 42 MOG-ON patients (49 eyes, 31.8%), 90 AQP4-ON patients (113 eyes, 68.2%). The clinical features of optic neuritis (annual recurrence frequency, incidence of optic disc edema), brain and optic nerve enhanced MRI, serum autoimmune antibodies and cerebrospinal fluid test results were compared between MOG-ON and AQP4-ON patients. All patients were treated with intravenous methylprednisolone sodium succinate in the acute phase and then switched to oral prednisone acetate tablets. The average follow-up time was 15 months. The glucocorticoid dependence, visual prognosis, spinal cord symptoms, and myelitis at the last follow-up were comparatively analyzed between MOG-ON and AQP4-ON patients. The comparison of the count data was performed by χ2 test, and the measurement data were compared by t test.ResultsCompared with AQP4-ON patients, MOG-ON patients had higher annual recurrence frequency (t=3.760, P=0.005), higher incidence of optic disc edema (χ2=14.777, P＜0.001), higher incidence of hormone dependence (χ2=25.496, P＜0.001), and better visual prognosis (χ2=28.759, P＜0.001). MOG-ON patients were more likely to involve the optic nerve, AQP4-ON patients were more likely to involve the optic chiasm and the optic tract. There was a significant difference in the location of lesions between MOG-ON and AQP4-ON patients (χ2= 5.447, P= 0.015). The proportion of AQP4-ON patients with autoimmune antibodies was significantly higher than that of MOG-ON patients (χ2 = 20.453, P＜0.001). The results of cerebrospinal fluid test showed that the white blood cell count of patients with MOG-ON and AQP4-ON were within the normal range, but the IgG level of AQP4-ON patients was significantly higher than that of MOG-ON patients (t=8.669, P＜0.001). At the last follow-up, there were 7 and 29 patients of myelitis in MOG-ON and AQP4-ON patients respectively (χ2=3.494, P=0.046).ConclusionsThe clinical characteristics of MOG-ON were different from AQP4-ON. The incidence of optic disc edema and recurrence rate were higher, but the proportion of autoimmune antibodies was lower. MOG-ON was more likely to show hormone dependence, but the visual prognosis was better. AQP4-ON was easily involved in optic chiasm and optic tract, and the incidence of myelitis was higher.
ObjectiveTo observe the fundus image characteristics of macular telangiectasia type 2 (MacTel type 2) patients.
MethodsA total of 8 patients (16 eyes) diagnosed of MacTel type 2 were included in this study. There were 4 males and 4 females, age ranged from 44 to 69 years old with a median age of (59.88±7.85) years. All patients received examination of best-corrected visual acuity (BCVA), slit lamp microscope, indirect ophthalmoscopy, fundus color photography, fundus autofluorescence (AF), fundus fluorescein angiography (FFA), spectral domain optical coherence tomography (OCT) and macular pigment optical density (MPOD). Four eyes of 2 patients received OCT angiography examination at the same time. Classification was made according to the Gass and Blodi's criteria. The follow-up time was from 1 to 19 months with the average time of (11.00±8.91) months. The clinical characteristics were observed and analyzed.
ResultsThe BCVA was 0.07-0.8. There were 1 eye in stage 1, 1 eye in stage 2, 6 eyes in stage 3, 8 eyes in stage 4. The disease showed a bilateral appearance with a low progression. Fundus features included loss of retinal transparency (14 eyes, 87.5%), blunted retinal venule (15 eyes, 93.75%), pseudo-lamellar hole (5 eyes, 31.25%), pigment proliferation (9 eyes, 56.25%). FFA findings were telangiectatic capillaries predominantly temporal to the foveola in the early phase and a diffuse hyperfluorescence in the late phase. Spectral domain OCT features included depletion of the retinal inner, outer structures, cavity (7 eyes, 43.75%), and atrophy of the neurosensory retina (9 eyes,56.25%). On AF, reduced foveal masking due to loss of macular pigment can be observed. The loss of macular pigment could also be seen on MPOD. OCTA showed the increased intervascular spaces, broken regular network of foveal avascular zone (FAZ), right-angled vessel dipping, dilatations, traction of superficial and deep capillary layers in both the superficial and deep layers, especially in the deep layer. Only one eye of one patient proceeded from stage 4 to stage 5.
ConclusionsCharacteristic features of MacTel type 2 included cavities and outer retina atrophy on OCT; loss of MP on MPOD; broken regular network of FAZ, morphological and structural abnormalities of superficial and deep layers of perifoveal capillary network on OCTA.
Autosomal recessive Best disease (ARB) is a rare clinical fundus disease caused by BEST1 mutation. The critical features of ARB are the presence of multifocal subretinal yellowish lesions, which corresponding to the hyperfluorescent spots on FAF, scattered over the posterior pole of the retina, absent of typical vitelliform lesions in the macula. Imaging of OCT is often manifested as subretinal or intraretinal fluid, and cystoid macular edema, and hypereflective focus at RPE level. EOG shows an absent or severely reduced light rise (decreased value of Arden), which often accompanied by reduction and delay of the rod and cone ERG. Some patients with ARB show hyperopia, short axial length and shallow anterior chambers, with a corresponding high incidence of angle-closure glaucoma. Though there isn't any effective therapeutic methods of ARB at present, prevention and treatment for its complications such as angle-closure glaucoma and choroidal neovascularization should be considered. Present study about ARB mainly focus on some retrospective cases, and ARB is often misdiagnosed with Best vitelliform macular dystrophy, central serous chorioretinopathy and other fundus diseases in clinic. A detailed understanding of the clinical features and genetic characteristics of ARB might be helpful in clinical diagnosis and treatment. Research with larger sample size are expected to further investigate the different stages of ARB and its developing process, the potential pathological mechanism, the relationship between genotype and phenotype, so as to improve the understanding of the disease.
Objective To observe the ocular features and analyze the cause of misdiagnosis of intraocular nonHodgkin's lymphoma (IONHL). Methods A retrospective study was performed in 6 patients and related literatures were reviewed. The age of those patients was 46 to 68 yrs with an average of 562 yrs. Four cases were female, two cases were male. Five patients were unilateral and one case was bilateral case. All patients were investigated by Goldmann tonometer, fundus fluorescein angiography (FFA) and ophthalmic Bscan. Pathological samples come from enucleation and vitrectomy, and were analyzed histologically and immunohistochemically. Results Ophthalmological signs of IONHL included decrease visual acuity, red eye, aqueous flare; keratic precipitates (Kp), vitreous opacity, retinal detachment and multiple whiteyellow retinal lesions of different sizes and fuzzy boundaries. IONHL patients were always misdiagnosed as diverse and nonspecific symptoms and signs, two cases were misdiagnosed as retinitis or chorioiditis, one case as intermediate uveitis, one case as secondary glaucoma in uveitis. The duration from onset of symptom and sign to a final diagnosis was from 6 months to 24 months with an average of 13.3 months. Conclusions The clinical manifestation of IONHL was diverse and non-specific，and this disease was unknown to lots of doctors and easily be misdiagnosed.
ObjectiveTo observe and analyze the clinical features, treatment methods and efficacy of patients with retinopathy associated with incontinentia pigmenti (IP).MethodsA retrospective case study. Twelve clinical confirmed IP patients (24 eyes) in Zhongshan Ophthalmic Center of Sun Yat-sen University from January 2015 to December 2018 were included in this study. The best corrected visual acuity and intraocular pressure examination were performed in patients (＞4 years old). All patients were examined on the anterior segment, vitreous body, and fundus under topical anesthesia or general anesthesia. Eight cases underwent genetic testing. Patients with active disease should be given anti-vascular endothelial growth factor (VEGF) drug treatment, retinal laser photocoagulation or vitrectomy, those without active disease should be observed. All patients were followed up for 1 to 3 months, with an average follow-up time of 18.7 months.ResultsAll patients were all female, with an average age of 6.3±9.8 years old at the first ophthalmology visit. According to the recommendations of the pediatrician, 3 cases were actively screened for ophthalmology (referrals), with an average age of 0.4±0.5 years (median age: 2 months). A total of 9 cases were not recommended for referrals (non-referrals), including 3 cases of ophthalmology who were diagnosed for the first time due to visual impairment, and 6 cases of undiagnosed IP before the ophthalmology visit, the average age of their first visit was 8.2±10.8 years (medium age: 3 years old). The age of the first visit for non-referred patients was larger than that of referrals, and the difference was statistically significant (Z=?2.141, P=0.036). Among the 24 eyes of 12 cases, there were no obvious fundus abnormalities in 1 case or 2 eyes, 11 cases of IP-related retinopathy in 22 eyes (91.7%, 22/24), 8 cases of binocular asymmetry (66.7%, 8/12). There were active lesions on the fundus in 7 eyes (29.2%, 7/24). Patients underwent simple retinal laser photocoagulation and/or anti-VEGF drug therapy. During the follow-up, retinal neovascularization recurred in 1 eye. Among the 8 cases that underwent genetic testing, 3 cases (37.5%, 3/8) were deleted in exons 4-10 of the IKBKG gene.ConclusionsIP is more common in women. IP-associated retinopathy is noted with early-onset, asymmetrical retinopathy, which is identified with retinal neovascularization and vitreous proliferation. Early detection and timely treatment are essential.
ObjectiveTo observe the clinical characteristics of retinoblastoma (RB) in Southwest China.MethodsA retrospective clinical study. From January 2010 to December 2017, 66 RB patients diagnosed in Ophthalmology Department of West China Hospital of Sichuan University were included in the study. All the patients underwent ocular B-ultrasound, orbital CT or MRI examination. Ten patients underwent RetCam examination at the same time. Twenty-nine patients were diagnosed by histopathological examination, and 37 patients were diagnosed by clinical symptoms and imaging examination. According to whether the tumor invaded the orbit and optic nerve, it could be divided into extraocular stage and intraocular stage. Intraocular tumors were divided into A-E stages according to the international intraocular RB classification. Treatments were performed according to different stages. The general information, age at diagnosis, course of diseases (the time between onset symptoms and diagnosis), causes of visiting a doctor, classification, treatment methods and eyeball preservation rate were retrospectively analyzed.ResultsPatients all came from Southwest China (56 patients from Sichuan Province, 2 patients from Yunnan Province, 2 patients from Guizhou Province, and 6 patients from Tibet). The permanent residence were identified in 43 patients, including 27 patients (62.8%) from rural areas. There were 38 males (57.6%); 50 unilateral tumors (75.8%) and 16 bilateral tumors (24.2%); 51 first-visiting patients (77.3%) and 15 re-visiting patients (22.7%). The average diagnostic age of first-visiting patients was 20.9±14.4 months, with 23.2±14.7 and 11.2±7.6 months for unilateral and bilateral tumors, respectively. There were 41 patients had definite course and causes, of whom the average course was 90.6±115.2 days. The most common cause was leucocoria in 32 patients (62.7%), followed by redness and swelling in 4 patients (9.8%), and other causes in 5 patients (12.2%). Among the 15 re-visiting patients, the average diagnostic age was 63.6±46.8 months, the average course was 32.8±45.5 months. Recurrence was occurred in 5 patients (33.3%), leucocoria in 4 patients (26.7%), postoperative complication in 3 patients (20.0%), protrusion in 2 patients (13.3%) and redness in 1 (6.7%) patient, respectively. Fifty out of 82 eyes were admitted to hospital, including 37 eyes of first-visiting patients and 13 eyes of re-visiting patients. Among 37 first-visiting eyes, there were 5 eyes (13.5%) in stage A-C, 26 eyes (70.3%) in stage D-E, 6 eyes (16.2%) in extraocular stage. Five eyes in stage A-C were treated with laser photocoagulation and (or) cryotherapy combined with systemic chemotherapy. Four eyes in stage D were treated with intraocular arterial chemotherapy. Nineteen eyes (51.3%) were performed with enucleation, 2 eyes (5.4%) with evisceration and 7 eyes (18.9%) abandoned treatment. Among 13 re-visiting eyes, 6 eyes (46.2%, with 5 eyes of recurrence) had been enucleated before, 4 eyes (30.8%) were in extraocular stage and 3 eyes (23.1%) in stage D-E. Five eyes (38.5%) were treated with evisceration, 4 eyes (30.8%) with enucleation, 1 eye with oculoplastic surgery and 3 eyes (23.1%) abandoned treatment. The rate of eye preservation was 18.0%, 29.0% for intraocular stage and 0% for extraocular stage, respectively.ConclusionRB patients in Southwest China have a longer course between onset symptoms and diagnosis, more advanced classification and lower rate of eye preservation.
