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 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.
ObjectiveTo explore the clinical features, primary lesions and prognosis of optic nerve metastases.MethodsSeven patients (11 eyes) with optic nerve metastatic tumor diagnosed by the examinations of ophthalmology, laboratory and pathology in Chinese PLA General Hospital from April 2015 to September 2017 were included in this study. All patients underwent BCVA, flash VEP, OCT, orbital MRI, serum tumor marker, cerebral spinal fluid detection and PET-CT. Histopathological examination of primary or near superficial metastases was performed. The follow-up period was ranged from 16 to 44 months, with the mean of 23.0±10.9 months. The clinical characteristics, primary tumor, imaging features, treatment and clinical prognosis in the patients were analyzed.ResultsAmong 7 patients, there were 5 males and 2 females, with the mean age of 53.90±14.99 years; 3 patients with unilateral optic nerve involvement, 4 patients with bilateral optic nerve involvement; 5 patients (71.4%) first diagnosed in ophthalmology. Five patients (45.5%) were misdiagnosed as optic neuritis, optic disc edema in 6 eyes (54.5%). All of them appear loss of visual acuity, including 8 eyes (72.7%) with BCVA＜0.1, 2 eyes (18.2%) with BCVA 0.1-0.5, 1 eye (9.1%) with BCVA＞0.5. MRI results show that 1 patient with intraorbital segment, 1 patient with internal segment of optic canal, 4 patients with intracranial segment, 1 patient with intracranial segment and optic chiasma involved simultaneously, 4 patients involving surrounding tissue. There were 4 patients (57.1 %) with lung cancer, 2 patients (28.6%) with kidney cancer, 1 patient (14.3%) with gastric cance; 6 patients (85.7%) with metastasis from other sites, 2 patients with brain metastasis (1 patient with meningitis carcinomatosa). There were 2 patients (28.6%) with previous primary cancer surgery. After diagnosis, 1 patient received chemotherapy, 1 patient received radiotherapy, 5 patients gave up treatment. At the end of follow-up, 1 patient (1 eye) of chemotherapy with BCVA increased by 2 line; 1 patient (2 eyes) of radiotherapy with no change in BCVA; of the 5 patients who gave up treatment, 1 patient died of disease, 1 patient lost follow-up, and 3 patients (4 eyes) had no change in BCVA.ConclusionsWith atypically clinical manifestations, the optic nerve metastases easily misdiagnosed as optic neuritis, and with poor therapeutic effect. Primary lesions are mostly found in lung cancer.
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 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.
Objective To observe the clinical features and treatment outcomes of presumed tubercular retinal vasculitis. Methods This is a retrospective non-comparative interventional clinical research. A total of nine patients (11 eyes) with major presentation of retinal vasculitis were included in this study. Patients first consulted the eye clinic and were diagnosed presumed tubercular retinal vasculitis. The patients, seven males and two females, aged from 19 to 66 years, with an average of 43.89 years. The time interval from symptoms to diagnosis ranged from two weeks to six months with an average of 76.27 days. Visual acuity, slit lamp ophthalmoscopy, fundus fluorescein angiography (FFA), optical coherence tomography (OCT), hematological and tuberculosis related investigations were examined and analyzed. All patients had standard anti-tuberculosis treatment. Treatment outcomes were followed for six to 37 months with an average of 14.11 months. Results Baseline visual acuity ranged from hand movement to 0.8 with an average of 0.28. Among 11 eyes, six presented mild to moderate vitritis, five presented as retinal vein occlusion with no obvious vitirits. Fundus examination showed six cases with retinal hemorrhage, four cases with macular edema, two with macular epiretinal membrane, and two with vitreous hemorrhage. FFA revealed 11 cases with leakage of vessels, 11 with nonperfusion area, four with macular edema, three with retinal neovascularization, and two with choroidal lesions. OCT of nine eyes suggested six eyes with retinal edema, three with macular edema, three with macular epiretinal membrane. TST of seven patients were all b positive. T-SPOT.TB of four patients were all positive. Three of eight patients who had chest X-ray or chest CT were suggested tuberculosis infection. Four to six weeks after the start of anti-tuberculosis treatment, vitritis, exudates, retinal and macular edema subsided. During follow up, inflammation was stable with no recurrence observed. The visual acuity of last follow-up ranged from 0.15 to 0.8 with an average of 0.51. Conclusions The main presentations of presumed tubercular retinal vasculitis are vitritis, retinal vein occlusion, and retinal hemorrhage. Standard anti-tuberculosis treatment can improve inflammation and retinal hemorrhage.
