98 results on '"Optic Atrophy"'
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2. Establishing Optic Nerve Diameter Threshold Sensitive and Specific for Optic Atrophy Diagnosis
3. An adolescent male with persistent urinary symptoms
4. Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
5. Neuro-sarcoidosis with isolated optic neuropathy: unmasking the chameleon
6. An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment
7. Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling
8. A p.Val412Serfs pathogenic variant associated with Wolfram-like syndrome and leukodystrophy
9. Automated macular segmentation can distinguish glaucomatous from compressive optic neuropathy
10. Developments in the Treatment of Leber Hereditary Optic Neuropathy
11. Demographics and etiologic characteristics of non-glaucomatous optic atrophy: a single-center cross-sectional study from Turkey
12. Charcot–Marie–Tooth Disease and Implications on Corneal Refractive Surgery
13. Characteristics of peripapillary retinal nerve fiber layer atrophy in glaucoma, optic nerve sheath meningioma, and sphenoid wing meningioma
14. Progression of optic atrophy in traumatic optic neuropathy: retrograde neuronal degeneration in humans
15. Clinicodemographic pattern and treatment outcome of Behcet’s disease cases presenting in a tertiary eye center of Nepal
16. Einseitige Optikusatrophie bei einem 9-jährigen Patienten
17. A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment
18. MDVI-Patienten – „multiply disabled, visually impaired“: Zur Situation von Kind, Eltern und Augenarzt bei mehrfachbehinderten, sehgeschädigten Kindern
19. Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C
20. Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4–Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies
21. Metabolic stroke in a patient with bi-allelic OPA1 mutations
22. Dependence of the Stereokinetic Effect on the Rotational Speed and Eccentricity of the Test Image in Children with Partial Optic Atrophy
23. Identification of a missense variant in the WFS1 gene that causes a mild form of Wolfram syndrome and is associated with risk for type 2 diabetes in Ashkenazi Jewish individuals
24. Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report
25. A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy
26. Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up
27. Natural history and clinical characteristics of 50 patients with Wolfram syndrome
28. Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients
29. Intravitreal erythropoietin injection in late-stage optic neuropathy: a safety study on human
30. Genetic Testing in Pediatric Ophthalmology
31. Autosomal-dominante Optikusatrophie
32. Stroke-like episodes in OPA1 carriers require comprehensive work-up and therapeutic considerations
33. Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome
34. Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives
35. Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
36. Essential roles of mitochondrial biogenesis regulator Nrf1 in retinal development and homeostasis
37. Differenzialdiagnose juveniles Normaldruckglaukom
38. New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy
39. Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
40. Extra Nodal Rosai–Dorfman Disease (Sinus Histiocytosis with Massive Lymphadenopathy) Presenting as Asymmetric Bilateral Optic Atrophy: An Atypical Ocular Presentation
41. Indirekte traumatische Optikusneuropathie nach Fahrradsturz
42. Molecular investigation of WFS1 gene exon 8 in Iranian patients with Wolfram syndrome
43. A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family
44. Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy
45. Visual function in infants with congenital hydrocephalus with and without myelomeningocoele
46. Paraganglioma of Right Cervical Plexus–A Case Report
47. Meningeome im Bereich der vorderen Sehbahn: Epidemiologie und klinisches Bild
48. Observation on therapeutic effect of mild moxibustion plus acupoint injection for optic atrophy
49. Characteristics of late negative ERG responses elicited by sawtooth flicker
50. Ausgewählte Aspekte der Kinderophthalmologie für Nicht-Kinderophthalmologen: Teil 2: Die „merkwürdig“ aussehende Papille beim Kleinkind
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