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1.
Laurie H. Seaver Leonard Joffe Ronald P. Spark Barbara L. Smith H. Eugene Hoyme 《American journal of medical genetics. Part A》1993,46(2):203-208
An apparently autosomal recessive syndrome of hereditary vitreoretinal degeneration (VRD) with retinal detachment, high myopia, and congenital encephalocele was described in 1971 by Knobloch and Layer [J Pediatr Ophthalmol 8:181–184]. Clinical confirmation of the presence of encephaloceles was lacking, and no neuropathologic studies were reported. We have evaluated a similarly affected family with 2 sibs with high myopia, VRD, and occipital scalp defects. Histologic examination of the scalp defects showed heterotopic neuronal tissue in both instances. The older girl has had a unilateral retinal detachment. Her other eye and both eyes of the younger sib have so far been treated successfully with prophylactic retinal cryotherapy. Both children have normal to above normal intelligence. The family reported by Knoblock and Lyer [1971] and the sibship herein described appear to represent a distinct autosomal recessive trait. Analysis of the associated defects suggests an underlying defect in early cephalic neuroectodermal morphogeneis. Data from these families imply that congenital occipital scalp defects rather than true encephaloceles may, as is true in some cases of Meckel syndrome, accompany Knobloch syndrome. The presence of a congenital midline scalp defect should alert the clinician to possible underlying central nervous system and/or ocular pathology and should lead to consideration of further diagnostic evaluations And prophylactic measures. © 1993 Wiley-Liss, Inc. 相似文献
2.
David B. Schowalter Roberta A. Pagon Robert E. Kalina Ruth McDonald 《American journal of medical genetics. Part A》1997,69(1):45-49
We report on an 11-year-old boy with distinct facial anomalies, iris coloboma, iris hypoplasia, cataract, high myopia, retinal detachment, moderate sensorineural hearing loss, and proteinuria. He appears to have the facio-oculo-acoustico-renal (FOAR) syndrome, a rare familial disorder reported only 4 times previously. In contrast to the other patients, he has normal intellect. Am. J. Med. Genet. 69:45–49, 1997. © 1997 Wiley-Liss, Inc. 相似文献
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We report the successful removal of a retrobulbar foreign body using a transcranial approach in a 63-year-old patient with a penetrating injury to the left eye. Initial ocular examination revealed a corneoscleral laceration, hyphema, a traumatic cataract, and vitreous hemorrhage. Visual acuity consisted only of the perception of hand motion. Computed tomography demonstrated an orbital foreign body in the retrobulbar area. Emergency corneoscleral suturing, phacoemulsification of the cataract, and vitrectomy with posterior vitreous detachment were performed. Fifteen days after the emergency operation, we successfully removed the orbital foreign body using a transcranial approach, although the foreign body was very close to the optic nerve. On fundus examination 6 months later, a white, fibrous lesion was seen inferior to the optic disc, and the corrected visual acuity was 20/30. These positive results may be due to the complete vitrectomy at the correct time performed by a retina specialist and the minimal pressure on the eyeball while removing the foreign body, which resulted from the use of a transcranial approach. 相似文献
5.
H. Guo P. Tong Y. Peng T. Wang Y. Liu J. Chen Y. Li Q. Tian Y. Hu Y. Zheng L. Xiao W. Xiong Q. Pan Z. Hu K. Xia 《Clinical genetics》2014,86(6):575-579
High myopia is a severe visual impairment which can increase the risk of retinal degeneration, subretinal hemorrhage, choroidal neovascularization, cataract and retinal detachment. We recruited an autosomal‐recessive high myopia family, with affected subjects who also present early‐onset cataract, retinal degeneration and other complications. Using targeted capturing and whole exome sequencing, we identified a homozygous non‐sense mutation in the LEPREL1 gene which causes premature termination of the translation at the fifth amino acid (c.13C>T; p.Q5X), co‐segregating with the phenotypes. LEPREL1 encodes a proline hydroxylase called prolyl 3‐hydroxylase 2 (P3H2), a 2‐oxoglutarate‐dependent dioxygenase that hydroxylates collagens. The results show that LEPREL1 plays an important role in eye development and homozygous loss‐of‐function mutation of this gene can cause severely high myopia and early‐onset cataract. Our study also strongly suggests that the disruption of collagen modification is one of the pathogenic mechanisms of high myopia and cataract. 相似文献
6.
A 55-yr-old African American man was referred for evaluation of a mass involving the anterior choroid/ciliary body in his left eye. Dilated fundus examination revealed a large, deeply pigmented mass associated with an exudative retinal detachment. Ultrasonography demonstrated an elevated mass which involved the anterior uvea and showed low reflectivity by standardized A-scan. Cytologic examination of fine needle aspiration (FNA) biopsy from the tumor was interpreted as a melanocytoma. The patient developed a total retinal detachment and secondary glaucoma which led to enucleation of the eye. Histopathologic examination confirmed the diagnosis of melanocytoma. To our knowledge, this is the first report in which the diagnosis of uveal melanocytoma was established by FNA biopsy and later confirmed histopathologically. 相似文献
7.
Belson Rugwizangoga Theresia Mwabili Trishia Scanlan Peter Meyer James Kitinya 《African health sciences》2014,14(3):763-768
Background
Coats'' disease is an exudative retinal detachment with vascular telangiectasis occurring mostly in male children, the age group most affected by retinoblastoma.Objectives
Compare the differential diagnoses of Coats'' diseaseEstablish recommendation to early disease detection.Materials and Methods
A 3-year-old female child was referred to Muhimbili National Hospital (MNH), Tanzania, in September 2011. She had presented at the peripheral hospital with gradual onset of left eye leukocoria for 1 year and pain for 2 months. B-scan showed a mass in the left eye. A clinical diagnosis of retinoblastoma was made. Left eye enucleation was performed; the patient was referred to MNH, with the enucleated specimen.Results
Brain and orbits scan revealed no residual tumour. The globe measured 2x1.8 cm, the optic nerve stump measured 3 mm. A whitish mass filled the vitreous, with complete retinal detachment. Microscopy showed retinal gliosis, detachment with sub retinal PAS positive exudates, vacuolation and cholesterol clefts. Foreign body giant cells were present; telangiectatic thin-walled blood vessels were identified. Clinico-pathological findings were of stage 4 Coats'' disease.Conclusion
Coats'' disease is an important differential diagnosis of retinoblastoma. Delay to detect Coats'' disease leads to vision loss which necessitates eye enucleation as was in this child. 相似文献8.
Two families are described in which macular autosomal recessive retinal aplasia was confirmed by electroretinography. In one family macular coloboma, not previously reported in retinal aplasia. was associated with near complete blindness. In another family there were two affected siblings and their parents were firat zuuains. In a malc sibling, retinal aplasia was associated with keratoconus and cataract, and in his affected sister the ocular fundi appeared nearly normal. 相似文献
9.
B. A. Kormann H. Holzgreve P. G. Wolff-Kormann K. G. Riedel 《Journal of molecular medicine (Berlin, Germany)》1990,68(20):1027-1031
Summary A 52-year-old male patient presented with a sudden painful loss of vision in both eyes. Ophthalmological examination revealed bilateral uveitis and marked bilateral nonrhegmatogenous retinal detachment near the optic disk. Systemic workup demonstrated IgM paraproteinemia. Abdominal ultrasound and computed tomographic studies revealed enlarged adrenal glands and irregular masses in the right hepatic lobe. Immune electrophoresis and multiple biopsy specimens established the diagnosis of systemic polymorphous immunocytoma. Polychemotherapy of this B-cell-derived type of non-Hodgkin's lymphoma led to a rapid remission and fast reduction of serous retinal detachment. We believe this is the first case of bilateral exudative retinal detachment as the initial ocular manifestation of systemic malignant B-cell lymphoma.Abbreviations Ig A
Immunglobulin A
- Ig M
Immunglobulin M
- qd
every day
- OD
right eye
- OS
left eye
- CT
computerized tomography 相似文献
10.
Janvier Kilangalanga Ngoy Thomas Stahnke Serge Dinkulu Emile Makwanga Astrid Moanda Georgette Ngweme Edith Mukwanseke Günther Kundt Frank Thiesen Adrian Hopkins Rudolf F Guthoff 《African health sciences》2020,20(4):1817
IntroductionThe leading cause of childhood blindness globally is paediatric cataract. Bilateral cataract surgery can help to improve visual performance and to diminish the burden of childhood blindness.ObjectiveTo report in a retrospective observational cohort study the long-term outcomes of 298 children who had bilateral cataract surgery with IOL implantation from 2001–2016 in Kinshasa.MethodsA standardized surgical treatment of paediatric cataract was practiced on 298 children. Patient''s follow-up, complications, and visual outcomes were recorded and analysed.ResultsThe mean age was 5.7 ± 4.3 years and males were predominant (64.9%). Most of children were living mainly in urban poorest areas (96.3%). Strabismus, nystagmus and microcornea were encountered in 20.1%, 25.1% and 8.7% of children, respectively. Using WHO criteria most of patients were classified as blind preoperatively and 81.9% of them had improved visual outcomes after surgery. Main reasons for reduced vision during follow-up were secondary cataract (5.7%), IOL decentration (1.2%), retinal detachment (1.2%), and secondary glaucoma (1.5%).ConclusionIn spite of the post conflict challenges, elimination of cataract blindness in children remains a priority. Children present at a late age for surgery and long term follow-up is poor. There is need for program strengthening in these areas. 相似文献
11.
目的:探讨3~6岁自闭症儿童面部表情识别的影响因素。方法:采用眼动技术,观察高言语水平组与低语言水平组对不同情绪类型的陌生者面部表情和熟悉者面部表情图片的注视情况。结果:(1)在注视时间、注视点个数、注视率3项因变量指标上,言语能力的主效应均不显著(P0.05);(2)在注视点个数以及注视率上,表情性质的主效应显著(F=6.35,3.97;P0.05);(3)在注视时间上,面孔分区与熟悉度的交互作用显著(F=6.43,P0.05);(4)在注视点个数和注视率上,熟悉度与表情性质的交互作用显著(F=4.29,P0.05;F=6.73,P0.01)。结论:言语能力对自闭症儿童面部表情识别的影响较小;自闭症儿童对熟悉面孔的识别能力较好;自闭症儿童整体表现出对积极表情和消极情表情的注意偏好。 相似文献
12.
Bernice O Adegbehingbe 《African health sciences》2008,8(1):50-53
Objective
To present a scourge of blindness possibly due to an inherited condition causing retinal detachment in 3 siblingsMethods
In February 2004, three siblings from a monogamous family from Ipetu-Ijesha in Osun state, Nigerian presented to the author consecutively with history of visual impairment/ blindness. A detailed history and comprehensive ocular examination was conducted on each of them. Information obtained included patients demographic, family history of blindness, eye diseases and other medical conditionsVisual acuity assessment, slit lamp examination, direct and indirect ophthalmoscopy, intra-ocular pressure measurement, visual field test and systemic evaluation were conducted on each of the patients.Results
Two males and a female patient from the same parents who were systemically healthy are reported. Their ages were 67years, 58years and 52years respectively. Each presented with bilaterally poor vision ranging from 6/36 to no light perception, intra-ocular pressure ranging between 6 and 18mmHg and bilateral grayish white bullous retinal detachment.Conclusion
The mode of inheritance in these patients was most probably autosomal dominant or X-linked recessive. Ignorance and poverty causing failure to seek prompt specialize eye care were responsible for blindness in these siblings. 相似文献13.
Rabiu MM Kyari F Ezelum C Elhassan E Sanda S Murthy GV Sivasubramaniam S Glibert C Abdull MM Abiose A Bankole O Entekume G Faal H Imam A Sang LP Abubakar T 《Annals of African Medicine》2012,11(3):125-130
This is a review of the major publications from the Nigeria national blindness survey in order to highlight major findings and challenges of eye care in Nigeria. The review summarizes methodology and key findings. Survey publications on methodology, prevalence and causes of visual impairment and outcome of cataract surgery were retrieved, reviewed and relevant data extracted, reported and discussed. The study was the largest and more detailed eye survey in Nigeria (15,375 people 40 years and older recruited). Participants had detailed eye examination including visual acuity, autorefractokeratometry, A- scan biometry, visual field and basic eye examination. Cause(s) of visual impairment in each eye using WHO algorithm was determined among participants with vision < 6/12. Some of the participants also had qualitative questions on barriers to uptake of services, quality of life and visual function. Major highlights of the results as contained in the publications include a high prevalence of blindness with 4.2% (95% CI: 3.8-4.6%;),of the study population having blindness (using presenting vision (PVA)) even with best correction the prevalence was 3.4% (95% CI: 3.0-3.8%. The prevalence of SVI using PVA was 1.5% (95% CI: 1.3-1.7%).and with best correction 0.8% (95% CI: 0.7-1.0%). Blindness varied by age groups, sex, literacy level and geopolitical zone. Furthermore, 84% of blindness was due to avoidable causes with cataract responsible for 43% of blindness, glaucoma 16.7%, uncorrected aphakia 8.4% and corneal opacity 7.9%. Of the total 538 eyes that had cataract surgery procedures, 42.7% had couching and the remaining had cataract surgery, but only 41.4% of cataract operated eyes had IOL surgery. Outcome of cataract surgery was good at presentation for only 30.8% of eyes (84 eyes) which improved to 56.8% with correction. The possible remedy for the high burden of needless blindness and harmful eye health practices in Nigeria are discussed. 相似文献
14.
K. Sardari M. R. Emami A. Alavi Tabatabaee A. Ashkiani 《Comparative clinical pathology》2007,16(1):65-67
Mature cataract had caused change in appearance of the eye and complete blindness in an aged African lion. Early surgical
removal of the lens is the only effective treatment for mature cataract, and if surgery is not performed soon after maturation
of the cataract, total blindness may remain after surgery. The present report describes a mature cataract of unknown cause
with anterior lens luxation in a 20-year-old African lion treated by intracapsular extraction of the lens. On clinical examination,
immature cataract of the right eye and mature cataract with anterior lens luxation of left eye were diagnosed. The entire
lens, including anterior and posterior capsules, was removed by routine surgical techniques described for such a procedure.
The lion suffered self-trauma of the eye 48 h after surgery, and three sutures were disrupted. Antibiotic drops and Cefazolin
were administrated with extreme difficulty for 1 week. The lion was saved, but keratitis developed in the left eye. 相似文献
15.
Galetović D Bućan K Karlica D Lesin M Znaor L 《Acta medica Croatica : c?asopis Hravatske akademije medicinskih znanosti》2010,64(3):221-224
Metastatic tumors are among the most common intraocular malignancies, and are exclusively localized in the uvea, 88% in the choroids. A 54-year-old male patient was admitted to Urology Department for macrohematuria. A tumor of the left kidney was found. Upon nephrectomy, histopathology indicated papillary carcinoma of the kidney with some focal sarcomatous differentiation. The left suprarenal gland was normal, but one of the regional lymph nodes was invaded. Three years later, the patient was hospitalized again for tumor of the right suprarenal gland and para-aortic tumor. At the same time, the patient complained of visual acuity worsening on the left eye. Fundus examination and fundus photography revealed yellowish subretinal lesions with serous retinal detachment. Metastatic eye lesions may anticipate or follow the diagnosis of kidney carcinoma. All tumors with a tendency of hematogenous metastasizing have a high affinity of metastasizing into the uvea because of its abundant blood flow. Posterior pole is the most common localization; over 40% of lesions are found in macular region, which is attributed to the higher posterior choroidal blood flow and easy macular symptom detection. That is why kidney carcinoma has to be ruled out in all patients with such yellowish subretinal lesions. 相似文献
16.
S. J. Aldavood R. Zahedi I. Sohrabi Haghdoost M. Rezaie Kanooy A. Veshkini 《Comparative clinical pathology》2013,22(4):585-589
Ocular ultrasonography is a valid and non-invasive diagnostic method used to evaluate ocular and retrobulbar structures, especially when opacity of the anterior segments precludes ophthalmic examination of deeper structures of the eye or when exophthalmos is present. This study describes the B-mode ultrasonographic findings of the globe in 10 rabbits with experimental glaucoma. Ultrasonography of the eyes, using Titan TM machine and 7 MHz linear array transducer, was performed transpalpebrally. Ocular ultrasonographic findings revealed two cases of increased corneal thickness, seven cases of change in the anterior chamber depth, one case of increased echogenicity in the anterior chamber, three cases of retinal detachment, one case of increased iris and ciliary body thickness and six cases of change in axial globe length. Increased echogenicity of the capsule, cortex and nucleus was found in two cases. Six cases showed change in lens diameter. Increased echogenicity and altered lens diameter are typical of cataract. Two cases of point-like lesions, mass and/or linear echodensities in mild extent were observed within the vitreous representing haemorrhage, vitreous degeneration or detachment. The B-mode ultrasonographic imaging technique has become an essential diagnostic tool in most ocular disease. This method provides additional information allowing the clinician to offer more accurate diagnosis, treatment and prognosis in glaucoma. 相似文献
17.
Pathogenicity of Spiroplasma sp. strain SMCA in rabbits: clinical, microbiological, and histological aspects. 总被引:1,自引:1,他引:0
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Newborn rabbits inoculated intracerebrally with early-passaged broth cultures of Spiroplasma strain SMCA (suckling mouse cataract agent) either died or developed eye disease. Death occurred 4 to 12 days after infection. Rabbits which died showed hemorrhages throughout the brain, especially in areas leading to the optic nerve, and hemorrhages in the liver. SMCA could be reisolated from brain, liver, and eyes. Rabbits with eye disease did not open their eyes during an observation time of 3 to 4 months. Pathological examination revealed marked microophthalmia and severe cataract formation characterized by complete degeneration of lens fibers and liquefaction and mineralization of the lens. Other ocular changes were chronic panophthalmitis with complete destruction of the retina. Neither eye disease nor death could be induced by inoculating SMCA subcutaneously into newborn rabbits. In adult rabbits, no disease occurred after intravenous or subcutaneous injection or after inoculation into the conjunctival sac. 相似文献
18.
Pritchard CD Crafoord S Andréasson S Arnér KM O'Shea TM Langer R Ghosh FK 《Acta biomaterialia》2011,7(3):936-943
The aim of this study was to employ an experimental protocol for in vivo evaluation of sols of 5 wt.% poly(ethylene glycol) (PEG) in phosphate-buffered saline as artificial vitreous substitutes. A 20 gauge pars plana vitrectomy and posterior vitreous detachment were performed in the right eye of eight pigmented rabbits. Approximately 1 ml of the viscoelastic PEG sols was then injected into the vitreous space of six eyes. PEG with an average molecular weight of 300,000 and 400,000 g mol(-1) was used in two and four eyes, respectively. Two eyes received balanced salt solution and served as controls. Full-field electroretinography was carried out and intra-ocular pressure (IOP, palpation) measured pre- and post-operatively at regular intervals up to 41 days. The rabbits were killed and the eyes examined by retinal photography, gross macroscopic examination and histology. The viscoelastic sols were successfully injected and remained translucent throughout the post-operative period, with some inferior formation of precipitates. None of the eyes displayed IOP elevation post-operatively, but in three of the PEG sol injected eyes transient hypotony was noted. One eye sustained retinal detachment during surgery and another two in the post-operative period. ERG recordings confirmed preservation of retinal function in three out of four eyes injected with 400,000 g mol(-1) PEG. Histological examination revealed up-regulation of glial acidic fibrillary protein in Müller cells in PEG sol injected eyes, but normal overall morphology in eyes with attached retinas. The viscosity of the sol was not retained throughout the post-operative period, indicating the demand for polymer cross-linking to increase residence time. The results provide promising preliminary results on the use of PEG hydrogels as a vitreous substitute. 相似文献
19.
Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13. 总被引:6,自引:0,他引:6
E M Stone A E Kimura J C Folk S R Bennett B E Nichols L M Streb V C Sheffield 《Human molecular genetics》1992,1(9):685-689
Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is an inherited eye disease characterized by retinal and iris neovascularization, abnormal retinal pigmentation, anterior chamber and vitreous inflammation, cystoid macular edema, vitreous hemorrhage, and traction retinal detachment. Some of these clinical features are shared by more common, potentially blinding, conditions including diabetic retinopathy, uveitis, and retinitis pigmentosa. Elucidation of the molecular pathogenesis of ADNIV has the potential to provide insight into the mechanisms of these common disorders. One hundred and sixteen members of an eight generation family affected with ADNIV were examined. A combination of slit lamp biomicroscopy, ophthalmoscopy, and electroretinography was used to establish the diagnosis and 34 family members were found to be affected. Blood samples were obtained from thirty-three of these individuals and nine spouses and used for chromosome linkage analysis with denaturing gradient gel and short tandem repeat polymorphisms. Two markers that map to chromosome 11q13 were found to be significantly linked to the ADNIV phenotype. There were no recombinants between the disease phenotype and marker D11S527 and multipoint analysis yielded a maximum LOD score of 11.9 centered on this marker. 相似文献
20.
Wiśniewska-Ligier M Woźniakowska-Gęsicka T Sobolewska-Dryjańska J Markiewicz-Jóźwiak A Wieczorek M 《Parasitology research》2012,110(6):2363-2371
Toxocariasis is a helminthozoonotic disease caused by ascarid larvae of Toxocara genus: Toxocara canis and Toxocara cati. In the reported study, the clinical course of toxocariasis and administered therapy were evaluated in 103 children. The majority of the children (68.9%) were from the rural environment, with a prevalence of boys (62.1%). At diagnosis of infection, 36 (35%) children reported recurrent abdominal pain, 19 (18.4%) headache, 6 (5.8%) loss of appetite, 2 subfebrile conditions, and 2 arthralgia, Moreover, 23 (22.3%) children demonstrated symptoms of atopic diseases; in 30 (29.1%) children, moderate enlargement of lymphatic nodes was noted. In five children (4.9%), ophthalmic examination revealed unilateral changes in the eye: in two cases retinitis; in one case fibrotic lesions in the vitreous body, complicated 1 year from diagnosis by retinal detachment; and in other children parafoveal lesions and cataract. Only two children with ocular changes at diagnosis reported visual disorders. In 64.3% of children, eosinophilia was observed. A covert form of the disease was diagnosed in 95.1% of the children and an ocular form in 4.9%. In all the children, antiparasitic treatment was implemented, repeated several times in some of them. After therapy, the mean titer of specific antibodies, the number of children with abdominal pains and enlarged lymphatic nodes were decreased, while headaches maintained at unchanged levels. In approximately one fourth of the children with negative results of antibodies after the therapy, the symptoms of the disease were still reported. Evaluation of the efficacy of treatment is not easy due to non-characteristic symptoms and low kinetics of specific anti Toxocara IgG decrease; however, high IgG titers suggest non-effective treatment of concomitant infection requiring subsequent therapy. Due to risk of ocular form, which may develop in any stage of the disease, irrespectively of specific antibodies concentrations, it seems justified to implement antiparasitic treatment in all children infected with T. canis. 相似文献