Objective To observe the hereditary types and clinical characteristics of 137 patients with retinitis pigmentosa (RP) in Ningxia. Methods One hundred and thirty-seven patients with RP who diagnosed by the examinations of visual acuity, optometry, direct or indirect ophthalmoscope, visual field, optical coherence tomography (OCT) and electroretinogram were enrolled. The hereditary types and clinical characteristics were analyzed according to the family history and the Results of ophthalmologic examinations. Results One hundred and thirty-seven patients included 29 autosomal dominant RP (ADRP) patients from 8 families (7.4%), 16 autosomal recessive RP (ARRP) patients from 15 families (13.9%), 10 X-linked RP (XLRP) from 3 families (2.8%), and 82 simplex RP (SRP) patients (75.9%). There were 15 consanguineous marriage families out of 26 families with RP history (57.7%). The patients were classified as typical RP (102 patients, 74.5%) and atypical RP (35 patients, 25.5%). All the ADRP and XLRP patients showed typical clinical features of RP. Ten (62.5%) of ARRP patients and 53 (64.6%) of SRP patients had typical features of RP. Six (37.5%) of ARRP patients and 29 (35.4%) of SRP patients had atypical features of RP. Among atypical RP patients, 17 (48.6%) patients were nonpigmented RP which including 3 patients were misdiagnosed as amblyopia during childhood. The logarithm of minimal angle of resolution (logMAR) best corrected visual acuity (BCVA) of ADRP patients was 1.04plusmn;0.51 at the age older than 51 years, while the BCVA of ARRP and XLRP patients were 0.92plusmn;0.61 and 1.70plusmn;0.02 respectively at 21 to 30 years of age. One hundred and twentythree (89.8%) patients suffered from varying degrees of myopia. OCT showed that the average thickness of macular fovea in ADRP patients was (185.73plusmn;1.23) mu;m at the age older than 51 years, while in ARRP and XLRP patients were (173.21plusmn;0.98) and (170.49plusmn;1.15) mu;m respectively at 21 to 30 years of age. Conclusions ADRP and XLRP are typical RP. All atypical RP are ARRP and SRP. Non-pigmented RP are mainly seen in atypical RP which often misdiagnosed as amblyopia during childhood. The photoreceptors in macula are damaged in the early stage and the decline of visual acuity occurred at 21 to 30 years of age in patients with ARRP and XLRP. The ADRP patients has late slower decline of visual acuity and retain some visual acuity at the age older than 51 years.
ObjectiveTo analyze the clinical character of uveitis in second hospital of Jilin university. MethodsRetrospectively analyze the clinical data of uveitis patients referred to from Second Hospital of Jilin University from September 2009 to September 2014. According to anatomical location, the manifestation of these uveitis patients were divided into anterior uveitis, panuveitis, intermediate uveitis and posterior uveitis. To discuss the possible causes of these patients according to the general information and relevant clinical laboratory examinations results. ResultsThere were 1215 cases in this study, which included 587 male, accounting for 48.31%; and 628 female, accounting for 51.69%. The ratio of male-to-female was 0.93:1. The range of the age of these patients was from 4 to 91 years old. The mean age of these patients at the onset of these disease was (41.43±14.20) years. Of the 1215 cases, 40 male and 43 female were younger than 20 years. The ratio of male-to-female was 0.93:1; 412 male and 396 female were between 21 and 50 years old. The ratio of male-to-female was 1.04:1; 135 male 189 female were older than 50 years. The ratio of male-to-female was 0.71:1. There were 572 cases of anterior uveitis, accounting for 47.08%; 527 cases of panuveitis, accounting for 43.37%; 52 cases of intermediate uveitis, accounting for 4.28%; 64 cases of posterior uveitis, accounting for 5.27%. 703 cases had etiological diagnosis according to the clinical character and the auxiliary results, accounting for 57.68%. Vogt-koyanagi Haradal (VKH) syndrome, ankylosing spondylitis associated with uveitis and Behçet's disease were the common entity, accounting for 30.44%, 19.77% and 14.22% respectively. ConclusionsThe mean age of these patients in this study was older, compared to other reports. Female patients were more than male, especially in these patients older than 50 years. VKH syndrome, ankylosing spondylitis associated with uveitis and Behçet's disease were the common entities.
Objective To observe the clinical manifestation and ophthalmoscopic image characteristics of uveal metastatic carcinoma. Methods Thirty-six uveal metastatic carcinoma patients (43 eyes) were enrolled in this study. The patients included 21 males and 15 females. The patientsprime; ages ranged from 28 to 71 years, with a mean age of (47.3plusmn;10.2) years. Seven patients had bilateral carcinoma and 29 patients had unilateral carcinoma. There were 30 patients with lung cancer, three patients with breast cancer, one patient with gastric cancer and two patients without primary tumors. There were 20 patients with known primary cancer, 16 patients visited the Department of Ophthalmology first. All the patients were examined documenting visual acuity, intraocular pressure, slit-lamp microscopy and mydriatic fundus examination. Meanwhile, 22 patients (26 eyes) were examined using B-type ultrasound and/or color Doppler flow imaging (CDFI). Twelve patients (12 eyes) were examined using fundus fluorescein angiography (FFA) and/or indocyanine green angiography (ICGA). Seventeen patients (22 eyes) were examined using MRI and/or CT. The clinical manifestation and ophthalmoscopic image characteristics of uveal metastatic carcinoma patients were observed. Results Among 43 eyes, four lesions were in the iris, three lesions in the ciliary body and 32 lesions were in the choroid. Fundus examination showed an isolated mass in 26 eyes and more than two masses in nine eyes. Metastatic tumors of the iris and ciliary body often showed irregular cauliflower-like mass with gray-white or meat-red color and abundant vessels. The choroidal metastasis usually demonstrated flat rounded or irregular intraocular masses with gray-yellow or gray-white color in the posterior pole. B-type ultrasound showed ill-defined, flat, and irregular-shaped masses with uneven internal reflectivity. CDFI showed rich blood flow within the tumor. FFA and (or) ICGA showed pinpoint and mottled leaks against hyperfluorescence background. MRI revealed low or middle signal using T1WI and low signal intensity using T2WI. Conclusions The uveal metastatic carcinoma usually occurs in one eye with an isolated mass. Most of them show a flat gray-yellow mass in posterior choroids and have the primary cancer sites of the lung. FFA and/or ICGA show pinpoint and mottled leaks against hyperfluorescence background. B-type ultrasound and (or) CDFI show ill-defined, flat, and irregular-shaped mass with rich blood flow within the tumor. MRI reveals low signal intensity on T2WI.
ObjectiveTo assess the fundus characteristics and their associations with refractive error, best corrected visual acuity (BCVA) of highly myopic eyes in Chinese teenagers. MethodsThis is a cross-sectional and retrospective study. 544 teenagers (1050 eyes) with refraction more than -6.00 D were recruited from Tongren Eye Care Center. All participants underwent examinations including cycloplegic auto-refractometry and retinoscopy, BCVA, slit lamp and 45℃olor funds photography centered in macular. BCVA was recorded with logarithm of the minimum angle of resolution (logMAR) acuity. 988/1050 (94.1%) fundus photographs with clearly visible optic disc and fovea were selected for analysis. Degree of tessellation in optic disc and macular was defined by the exposure of choroidal vessel. Area of beta parapapillary atrophy (PPA), maximal and minimal diameter of optic disc, degree of fundus tessellation were measured by Image J software. Optic disc ovality was calculated by maximal diameter/minimal diameter. Associations between degree of tessellation, beta PPA area, optic disc ovality and refractive error, BCVA were analyzed. Presence of high myopic retinopathy, including chorioretinal atrophy, lacquer crack and Fuchs spot were also observed. ResultsMean spherical equivalent was (-10.66±2.63) D. Mean logMAR BCVA was 0.11±0.22. Tessellation was in 66.9% eyes. Mean degree in macular and peripapillary region was 0.83±0.96 and 1.04±1.00 (r=0.875, P=0.000). Beta PPA was in 97.3% eyes and mean area was (0.45±0.57) mm2. Mean ovality factor was 1.25±0.18 and Tilted optic disc was in 28.5% eyes. Refractive error, logMAR BCVA, beta PPA area, tilted optic disc and ovality factor were related with the degree of optic disc and macular tessellation (P < 0.05). Highly myopic retinopathy was found in 28 eyes, with older age, larger area of PPA, higher presence of tilted optic disc and degree of tessellation, worse BCVA. ConclusionsBeta PPA was the main fundus characteristics in teenagers. Visual acuity can be seriously impaired by highly myopic retinopathy, such as chorioretinal atrophy.
Objectives To investigate the clinical characteristics and prognosis of syphilitic uveitis. Methods Clinical charts of 32 syphilitic uveitis patients were retrospectively analyzed. The diagnosis was confirmed by clinical and laboratory tests. There were 32 patients (50 eyes), 18 males and 14 females; the ages were from 21 to 62 years ole, with a mean age of 42 years old. Eighteen patients were bilateral. All patients had complete ocular examinations including visual acuity, intraocular pressure, slit-lamp biomicroscopy, ophthalmoscopy, fundus fluorescein angiography (FFA), indocyanine green angiography (ICGA). Results Inflammatory cells in the anterior chamber and corneal endothelium were present in 42 eyes. Thirty eyes showed congestion and swelling of optic discs. Yellowwhite lesions in the posterior pole were present in 18 eyes. No change in 6 eyes. FFA showed staining or hyperfluorescence of optic disc in 32 eyes, venous leakage in 34 eyes, and cystoid macular edema in 15 eyes．ICGA showed squamous or disseminative hypofluorescence damages in 26 eyes. All patients were treated with penicillin and glucocorticoids, 36 eyes had improved vision and fundus damage had abated. Conclusions Most syphilitic uveitis was panuveitis with retinal vasculitis. The prognosis is good with early diagnosis and timely treatment of this disease．
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
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.