Objective To observe the clinical characteristics of ocular albinism type 1 (OA1) in China.Methods Sixteen patients with OA1 and eight female carriers (eight OA1 patients and four carriers were from the same family) were enrolled in this study. All subjects were examined for corrected visual acuity, slit-lamp microscopy and GPR143 gene mutation detection. Some subjects also received indirect ophthalmoscopy, photography of anterior segment and ocular fundus, retinoscopy and optical coherence tomography (OCT). Iris pigmentation was divided into type A, B and C according to the above findings. Type A: slight pigmentation; type B: uneven pigmentation; type C: large patch of hypo-pigmentation with hippus. Result The corrected visual acuity of 16 OA1 patients was from 0.1 to 0.3. All the OA1 patients have bilateral horizontal nystagmus without strabismus. All eight subjects received retinoscopy have medium to low hypermetropia and astigmatism. Type A, B and C iris pigmentation were found in eight (50.0%), seven (43.7%) and one (6.3%) patients, respectively. Two (25.0%) carriers have Type A iris pigmentation, and other six carriers (75.0%) were normal. There is no typical albinism retinopathy, however macular foveal structures were never found in these patients. Four carriers have fundus striate or uneven hypo-pigmentation. The macular foveal structure of all the carriers was normal. The macular foveal structure was not found in three subjects who underwent examination of OCT. GPR143 gene mutation was found in all the OA1 patients (100.0%) and all the carriers.Conclusions The major clinical characteristics of Chinese OA1 patients are foveal hypoplasia and GPR143 gene mutation.
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.
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.
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.
ObjectiveTo summarize the clinical features and visual outcome of posterior scleritis presented with symptoms involving affected optic nerve.MethodsRetrospective case series study. Twelve eyes of 12 female patients with posterior scleritis were included in this study. The average age was 35.2±14.31 years old. The patients got diagnosed with an average of 24.75±22.91 days. Ocular pain was complained in all patients, and blurred vision in 11 patients. The best corrected visual acuity (BCVA), intraocular pressure (IOP), slit lamp microscope examination, B-scan ultrasound, optical coherence tomography (OCT), fundus photography, fundus fluorescein angiography (FFA) and ocular wall thickness measurement were performed in all patients. Nine eyes received visual field examination. All patients received systemic corticosteroid and steroidal eye drops for 3 months. Clinical features and outcome were retrospectively studied.ResultsBefore treatment, the BCVA was from ＜0.1 to ＞0.8. There were 3 eyes with scleral hyperemia, 3 eyes with anterior chamber flares, 12 eyes with papilledema and different degrees of retinal vein dilatation, 3 eyes with star-shaped macular exudates and 2 eyes with macular retinal pigment epithelium detachment. B-scan ultrasound demonstrated that the ocular walls were thickening in all eyes with typical T-sign, and the average thickness was 2.76±0.68 mm. OCT demonstrated optic disc swelling, and the macular retinal detachment in 2 eyes. In the FFA examination, the fluorescein leakage of the disc was enhanced with time. In the Humphrey test, the value of mean deviation (MD) was 12.56±5.73 dB and pattern standard deviation (PSD) was 8.15±4.23 dB in 9 eyes before the treatment. After treatment for 3 months, the symptoms were attenuated and the visual acuity was obviously improved with BCVA>0.1 in all eyes. Scleral hyperemia and anterior chamber flares were only found in 1 eye. The optic disc edema gradually faded away. The ocular wall thickness in the poster part of the eyeball decreased, and the T-sign disappeared in all eyes, the average thickness was 1.53±0.41 mm. Compared with parameters before the treatment, the difference was statistically significant (t=0.003 5, P＜0.05). OCT demonstrated the recovery of the macular retinal detachment. There was no abnormal leakage evidenced in FFA in the optic disc and macular. After treatment, the value of MD and PSD was 5.19±4.82 dB and (4.33±3.76) dB, respectively. The difference of MD value between before and after the treatment was significant (t=0.026, P＜0.05).ConclusionsPosterior scleritis with an initial symptom of optic nerve was tend to affect middle-aged patients, with clinical manifestations of anterior segment signs in some patients and optic disc swelling with retinal vein dilatation in all patients. B ultrasound examination showed typical T sign. Systemic corticosteroid treatment always obtained remission of the ocular inflammatory activity, and could achieve favorable visual outcome.
Objective To observe the characteristics of fundus fluorescein angiography (FFA) in different types of pathologic myopic maculopathy and evaluate the influence factor.Methods The clinical data of 251 patients (451 eyes) with pathologic myopic maculopathy were retrospectively analyzed. The patients were divided into 6 groups according to FFA characteristics: (1) lacquer cracks (LC); (2) choroidal neovascularization (CNV); (3) macular hemorrhage with LCs; (4) Fuchs spots; (5) macular atrophy; (6) macular hole. Their relationship with age, gender, refraction and (BCVA) were analyzed.Results Older age was significantly associated with CNV and macular atrophy (OR=1.034,CI=1.019-1.049,P＜0.001;OR=1.054,CI=1.031-1.076,P＜0.001; respectively);younger age was associated with hemorrhage with LC (OR=0.906,CI=0.876-0.937,P＜0.001). Higher myopic refractive error was associated with macular atrophy (OR=0.762,CI=0.705-0.824,P＜0.001), whereas lower myopic refractive error was associated with CNV and macular hole(OR=1.233,CI=1.136-1.338,P＜0.001;OR=1.554,CI=1.185-2.038,P＜0.001; respectively). A worse visual acuity was associated with CNV (OR=1.835,CI=1.180 -2.854,P=0.007), while better visual acuity was associated with LC (OR=0.506,CI=0.328 - 0.782,P=0.002). There was no gender difference in distribution of high myopic maculopathy types. Conclusions Pathologic myopic maculopathy can be divided into six types. With increasing age, the incidence rates of CNV and macular atrophy increases, hemorrhage with LC but decreases. With the rise of myopic refractive, the incidence rates of CNV and macular hole decreases, macular atrophy but increases.
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 investigate the clinical characteristics of patients with polypoidal choroidal vasculopathy (PCV) from Central China . Methods This was a retrospective study, and 403 eyes of 362 patients diagnosed as PCV by ocular fundus photography, fundus fluorescein angiography (FFA), indocyanine green angiography (ICGA) and optical coherence tomography (OCT) were enrolled. The general clinical data, fundus manifestation and ocular fundus examinations were statistically analyzed. Results Three hundred and sixty-two cases included 249 males (68.8%) and 113 females (31.2%). Age ranged from 45 to 91 years old, and mean age was (64.81plusmn;9.31) years old. Bilateral lesions were observed in 41 patients (11.3%) and unilateral lesions were observed in 321 patients (88.7%)． In these 403 eyes, typical orangered lesions were observed in 162 eyes (40.2%); yellowishwhite exudate could be found in 185 eyes (45.9%); 268 eyes (66.5%) showed variable degrees of subretinal hemorrhage. Drusen was found in 23 eyes (5.7%), pigment proliferation in 20 eyes (5.0%) and fiber vascular scar in 96 eyes (23.8%). The lesions of 386 eyes (95.8%) located in macular region, 53 eyes (13.2%) in peripapillary area. Lesions presented multifoci in 67 eyes (16.6%). Three hundred and four eyes (75.4%) presented typical polypoidal lesions and 152 eyes (37.7%) with abnormal branching choroidal networks. Hemorrhagic retinal pigment epithelial detachments (PED) were found in 200 eyes (49.6%) and serous PED in 96 eyes (23.8%), both existed in 25 eyes（6.2%）. OCT showed 56 eyes (13.9%) presented cystoid dark chamber between the neurosensory retina and 109 eyes (27.0%) with double-layer sign formed by the separation of retinal pigment epithelium and Bruchprime;s membrane (27.0%). Two hundred and seventy-four eyes (68.0%) were found with conelike elevation beneath the RPE layer and 151 eyes (37.6%) with neurosensory detachment. Conclusions In Central China, the majority of PCV patients were male, unilateral. Most PCV lesions were located in the macula. Subretinal hemorrhage, polypoidal lesions and abnormal choroidal vascular networks were common in the PCV patients. Hemorrhagic PED presented a higher ratio than serous PED.
Objective To observe the fundus characteristics of acquired immune deficiency syndrome (AIDS) with human immunodeficiency virus (HIV) retinopathy. Methods Eighty eyes of 52 AIDS patients with HIV retinopathy were enrolled in this study. The patients included 42 males (67 eyes) and 10 females (13 eyes). The patients ages ranged from 16 to 78 years, with a mean age of (43plusmn;12) years. All patients' visual acuity, intraocular pressure, slit-lamp microscopy and mydriatic indirect ophthalmoscopy, fundus color photography and CD4+ T cell count was documented. Experienced ocular fundus doctors carried out fundus examinations. Retinopathy characteristics were recorded. Seventeen patients (24 eyes) were followed for a period between two days to two years, with a median of 125 days. We failed to follow up the remaining 35 patients (56 eyes) due to death or moving away. Results Among 52 patients (80 eyes), 28 patients (56 eyes, 70.0%) had bilateral HIV retinopathy and 24 patients (24 eyes, 30.0%) had unilateral HIV retinopathy. Cotton-wool spots (CWS), mostly located close to temporal peripapillary vessels, were found in 46 patients (72 eyes, 90.0%). Six patients (eight eyes, 10.0%) were found to have flaming or spotting hemorrhage located in posterior pole. Among 72 eyes with CWS, 57 eyes were found to have CWS only and 15 eyes were found to also have retinal hemorrhage, mostly located near CWS. Among 24 eyes of 17 followed-up patients, three eyes of three patients were found with no significant changes during the less than two week follow-up. In 18 eyes of 11 patients, CWS or hemorrhage disappeared after one to three months without treatment and in five eyes new CWS or hemorrhage were found in other parts of the posterior pole. Three eyes of three patients initially considered as lint plaque-like lesions were eventually detected with CMVR as lesions during one to five months follow-up. Conclusion CWS are the most common ocular lesions in HIV retinopathy.
Objective To compare neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in age at diagnosis, gender and disease laterality. Methods One hundred fourteen nAMD patients (114 eyes) and 145 PCV patients (186 eyes) diagnosed by fundus fluorescein angiography (FFA) and indocyanine green angiography were enrolled in this retrospective study. The age at diagnosis, gender and disease laterality of all the patients were collected. Independent sample t-test, chi;2 test and Fisher's exact test were used to compare the age at diagnosis, gender and disease laterality between nAMD and PCV patients. Results The mean age at diagnosis of nAMD group and PCV group were (68.30plusmn;9.86), (65.67plusmn;9.04) years respectively, the difference was statistically significant (t=-2.168, P=0.031). The patients under 70 years old accounts for 50.88% in nAMD group, which is lower than that in PCV group (63.45%), the difference was statistically significant (chi;2 =4.138, P=0.042). The male/female ratio of nAMD group and PCV group were 3.56∶1 and 2.02∶1 respectively, the difference was statistically significant (chi;2 =3.937, P=0.047). Thirty patients (26.32%) and 41 patients (49.46%) were affected unilaterally in nAMD and PCV group, respectively. The difference of bilateral incidence between two groups was not statistically significant (chi;2 =0.123, P=0.726). There were 69 right eyes (47.92%) and 75 left eyes (52.08%) in nAMD group, 92 right eyes (49.46%) and 94 left eyes (50.54%) in PCV group. The difference of disease laterality between two groups was not statistically significant (chi;2 =0.078，P=0.637). Conclusions PCV patients present at younger age than nAMD. nAMD is more prone to affected males than PCV. Nearly a quarter patients are bilateral in nAMD or PCV, there is no difference in bilateral incidence between these two diseases.