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 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.
ObjectiveTo observe the ocular clinical features and efficacy of young infants with incontinentia pigmenti (IP). MethodsA retrospective study. Clinical data of 18 young infants with IP aged 0-3 months in the Department of Ophthalmology of Henan Children's Hospital from October 2017 to February 2019 were collected in this study. All patients were underwent fundus examination under topical anesthesia or general anesthesia. Among them, 9 cases were underwent genetic testing. Patients were determined whether to treated with retinal laser photocoagulation (LIO) or intravitreal conbercept (IVC, 0.25 mg/0.025 ml) according to the condition of eyes. The followed-up time ranged from 4months to 43 months. The ocular clinical features and treatment were observed. ResultsThere were 1 male and 17 females of the 18 patients. The age of first visit were 1.2±1.0 months (2 d-3 months). All cases had typical skin lesions, 4 cases had neurological symptoms, 10 cases had tooth abnormalities, and 4 cases had cicatricial alopecia. Among the 9 cases that were underwent genetic testing, 5 cases were deleted in exons 4-10 of the IKBKG gene and 1case were a heterozygous mutation c.1124delT in exon 9 of the IKBKG gene. Among the 36 eyes, 21 eyes of 13 cases with incontinentia pigmenti-associated ocular diseases were all retinopathy (58.3%,21/36). Retinopathy of 9 cases were asymmetrical (69.2%,9/13). Among the 21 eyes, 3 eyes were simple retinal pigment abnormalities (14.3%,3/21) and 18 cases had retinal vascular lesion (85.7%, 18/21). Among the 36 eyes, 8 eyes were treated; 4 eyes were underwent LIO; 3 eyes were treated with IVC; 1 eye was treated with LIO combined with IVC. They were all improved significantly after the operation without serious complications. 1 eye with retinal detachment did not undergo surgical treatment due to guardian reasons. Perceptual exotropia and eyeball atrophy was found during the follow-up. ConclusionsThe onset of IP-related ocular anomalies is early. The early anomalies were mainly retinal vascular abnormalities. Treatment in early time is effective.
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.
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．
Objective To observe the clinical features of combined central retinal artery and vein occlusion. Methods The clinical data of eight patients of combined central retinal artery and vein occlusion diagnosed by fundus examination and fundus fluorescein angiography (FFA) was analyzed retrospectively, including the causes, fundus manifestations and FFA features. Results 4/8 patients had hypertension and dyslipidemia, 2/8 patients had traumatic retrobulbar hemorrhage, one patient had orbital cellulitis and one patient had systemic lupus erythematosus. All the patients had posterior pole retinal edema, hemorrhage, thin retinal artery, dilated vein, and papilledema. FFA showed delayed arterial filling, and there was no filling of retinal arterial branches until the late stage of FFA. Laminar flow delayed in large retinal veins, and there was no filling or only retrograde filling in retinal vein branches. Large areas with dot-like or patchy weak choroidal fluorescence can be observed in five patients. Conclusions Combined central retinal artery and vein occlusion is rare with complex etiology. The fundus manifestations and FFA features are atypical, but have features of central retinal artery occlusion and central retinal vein occlusion.
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 features and visual prognostic factors of ethambutol-induced optic neuropathy (EON).MethodsA cohort study. Twenty-four inpatients (46 eyes) identified as EON in Neuro-Ophthalmology Department of Chinese PLA General Hospital from January 2014 to December 2017 were enrolled, including 14 males (26 eyes) and 10 females (20 eyes) with a ratio of 1.4/1 male/female. The average age was 42.79±15.12 years and the average weight was 62.46±12.31 kg. The average time duration between oral administration of ethambutol and occurrence of EON was 9.94±16.49 months. The average time of ethambutol duration was 7.06±11.68 months, with an average accumulative dose of 156.7±1 779.0 g and the average daily dose of 15.07±8.95 mg/(kg·d). All patients were tested with visual acuity, fundus photos, colour vision, OCT, visual field, VEP, orbital MRI and the gene of OPA1 and mitochondrial deoxyribonucleic acid (mtDNA). All the patients accepted drug withdrawal immediately after diagnosis, and were given the treatment of systemic nerve nutrition and improvement of microcirculation for 2 weeks. The time of follow-up was more than 12 months. According to whether the visual acuity (VA) in any of eyes was over than 0.1 at the last follow-up, all the patients were divided into two groups: the bad VA group (VA less than or equal to 0.1) and the better VA group (VA over than 0.1) group. The χ2 test and Fisher's exact probabilistic method test were used to compare the counting data between groups, and the Wlincox rank sum test was used to compare the measurement data. Multiple factors of VA outcome between the patients with bad or better va were analyzed by logistic regression.ResultsThirty eyes (65.2%) had VA less than or equal to 0.1 and 5 eyes (10.9%) had VA over than 0.5 at EON onset. The VA of the rest 11 eyes (23.9%) was higher than 0.1 and lower than 0.5. At the last follow-up, 20 eyes (43.5%) had VA less than or equal to 0.1 and 9 eyes (19.6%) had VA over than 0.5, the VA of the rest 17 eyes (36.9%) was higher than 0.1 and lower than 0.5. Fundus examination revealed 7 eyes (15.3%) with optic disc edema. OCT revealed significant loss of the retinal nerve fiber layer (RNFL) in the affected eyes, mainly in the temporal RNFL of the optic disc. All patients had dyschromasia, mainly in distinguishing the color of red and green. The types of visual field defect was as following: central dark spot (52.2%), diffuse visual acuity decreased (30.4%), temporal hemianopsia (17.4%). Orbital MRI revealed that 12/24 (50.0%) patients had T2 lesions with T1 enhancement in 6/24 patients (25.0%). Genetic test showed that 4 patients (16.7%) had gene mutation. Among them, there were 2 patients with OPA1 mutation, 1 with mtDNA 14340 point mutation and 1 with the mtDNA 11778 point mutation. Thirteen patients showed better VA outcomes (over than 0.1) while 11 showed bad VA outcomes after discontinuation of ethambutol. Between the better VA group and the bad VA group, there were statistically significant differences in the daily dose of ethambutol and gene mutation (P=0.031, 0.023). The daily dose was related to visual prognosis of EON while only the daily dose of more than 18 mg/(kg·d) may lead to bad VA outcomes according to the logistic analysis (95% CI 0.007-0.736, OR=0.069, P=0.027).ConclusionsEON may have OPA1 and mtDNA mutation with more bilateral eyes involved and less optic edema, which about 43.5% of the patients showed irreversible visual impact. The daily dose of ethambutol is related to the vision recovery.
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.
