retinal atrophy

视网膜萎缩
  • 文章类型: Case Reports
    未经证实:再生障碍性贫血可导致患者的眼科异常。由于各种程度的大量视网膜出血而导致的再生障碍性贫血儿童的视力丧失很少见。
    UNASSIGNED:一名患有再生障碍性贫血的儿科患者,表现为多个级别的视网膜出血,同时双眼出现浆液性视网膜脱离,并在平坦部玻璃体切除术后出现视网膜改变。
    未经证实:再生障碍性贫血中的贫血和血小板减少可引起严重的视网膜出血,并导致视网膜萎缩和视网膜水肿。可以进行玻璃体切除术以去除玻璃体出血,但是视网膜萎缩和水肿的危险因素需要进一步研究。
    UNASSIGNED: Aplastic anemia can cause ophthalmic abnormalities in patients. Vision loss in a child with aplastic anemia due to massive retinal hemorrhages at various levels is rare.
    UNASSIGNED: A pediatric patient with aplastic anemia presented with retinal hemorrhages at multiple levels along with a serous retinal detachment in both eyes and subsequent retinal changes after pars plana vitrectomy.
    UNASSIGNED: Anemia and thrombocytopenia in aplastic anemia could cause severe retinal hemorrhages and result in retinal atrophy and retinal edema. Vitrectomy can be performed to remove vitreous hemorrhage, but risk factors for retinal atrophy and edema need further investigation.
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  • 文章类型: Case Reports
    A case of a patient with an early and severe visual impairment is described. Due to the occurrence of skin papules a suspect of pseudoxanthoma elasticum (PXE) was posed. PXE is a rare autosomal recessive disease clinically characterized by skin, cardiovascular and ocular manifestations, these last being those that most severely affect patients\' quality of life. A whole exome sequencing approach focusing on 340 genes related to the calcification process and/or to inherited retinal diseases (IRDs) was performed. Rare monoallelic sequence variants in ABCA4, ABCC6, IMPG1, POC1B and RAX2 were found. The presence of calcified elastic fibers was assessed by ultrastructural analysis on a skin biopsy. Diagnosis of PXE was based on clinical, biomolecular and morphological results, although the additional involvement of several IRD genes is important to explain the unexpectedly severe ophthalmological phenotype of the patient also in prognostic and therapeutic perspectives. Data indicate that genetic screening using a wide-spectrum analysis approach is essential to assist ophthalmologists in improving patient counseling.
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  • 文章类型: Case Reports
    The special sensory organs play significant role in our daily lives. Until one of them is totally or partially lost, its real value is not fully appreciated. The most tragic, yet common loss of sensory organ is that of an eye. Restoration of unilateral ocular defects is very challenging for a maxillofacial prosthodontist and requires great skill to mimic bilateral eye. Restoration of bilateral defects using customized eye prosthesis presents even more difficult task for clinician especially in communication with patient, impression procedures, and patient education regarding insertion, removal and maintenance of prosthesis. Such loss of eyes may have a tremendous emotional and psychological impact on the patient. This article presents a technique for fabrication of bilateral ocular prosthesis of completely blind patient.
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