277 results on '"Kearns, Lisa S."'
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2. Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?
3. Retinal ganglion cell-specific genetic regulation in primary open-angle glaucoma
4. Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
5. Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
6. Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration
7. Establishing risk of vision loss in Leber hereditary optic neuropathy
8. Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry
9. OXPHOS bioenergetic compensation does not explain disease penetrance in Leber hereditary optic neuropathy
10. Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma
11. Meta‐analysis of Genome‐Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology
12. Development of a Modular Automated System for Maintenance and Differentiation of Adherent Human Pluripotent Stem Cells
13. A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy
14. Gene-Based Therapies for Leber Hereditary Optic Neuropathy. Hype or Hope?
15. Participant understanding and recall of informed consent for induced pluripotent stem cell biobanking
16. Effectiveness of a Binocular Video Game vs Placebo Video Game for Improving Visual Functions in Older Children, Teenagers, and Adults With Amblyopia: A Randomized Clinical Trial
17. Heritability of strabismus: genetic influence is specific to eso-deviation and independent of refractive error
18. The Norfolk Island Eye Study (Nies): Rationale, Methodology and Distribution of Ocular Biometry (Biometry of the Bounty)
19. Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort
20. Pathogenic genetic variants identified in Australian families with paediatric cataract
21. Twins Eye Study in Tasmania (TEST): Rationale and Methodology to Recruit and Examine Twins
22. New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics
23. Associations of Birth Weight With Ocular Biometry, Refraction, and Glaucomatous Endophenotypes: The Australian Twins Eye Study
24. Current landscape of direct-to-consumer genetic testing and its role in ophthalmology: a review
25. Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations
26. Auditory function in individuals within Leber’s hereditary optic neuropathy pedigrees
27. Genetic Dissection of Myopia: Evidence for Linkage of Ocular Axial Length to Chromosome 5q
28. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy
29. What is the appropriate age cut-off for cycloplegia in refraction?
30. Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration
31. Adherence to home-based videogame treatment for amblyopia in children and adults
32. The association between pterygium and conjunctival ultraviolet autofluorescence: The Norfolk Island Eye Study
33. Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations
34. Prevalence and predictors of refractive error in a genetically isolated population: the Norfolk Island Eye Study
35. Telemedicine model to prevent blindness from familial glaucoma
36. 10. UNRAVELLING THE POLYGENIC NATURE OF ACUTE ANTERIOR UVEITIS: 1510
37. Classification of iris colour: review and refinement of a classification schema
38. Adherence to home-based videogame treatment for amblyopia in children and adults
39. The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort
40. Systemic disease associations of familial and sporadic glaucoma: the Glaucoma Inheritance Study in Tasmania
41. How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania
42. Screening for Glaucomatous Disc Changes Prior to Diagnosis of Glaucoma in Myocilin Pedigrees
43. Introducing a new retinitis pigmentosa patient information website
44. Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.
45. The genetic and clinical landscape of nanophthalmos in an Australian cohort
46. The challenge of an adequate outcome in trials for genetic eye disease such as Leber hereditary optic neuropathy
47. Prevalence ofFOXC1Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma
48. CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma
49. Mitochondrial DNA Variation and Disease Susceptibility in Primary Open-Angle Glaucoma
50. Congenital glaucoma with anterior segment dysgenesis in individuals with biallelicCPAMD8variants
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