| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
30626431 |
Doyne honeycomb retinal dystrophy - functional improvement following subthreshold nanopulse laser treatment: a case report. Cusumano A, Falsini B, Giardina E, Cascella R, Sebastiani J, Marshall J. J Med Case Rep. 2019;13(1):5. |
| Macular degeneration | ||
| EFEMP1 | ||
| Adult Homo sapiens Low-Level Light Therapy Male Optic Disk Drusen | ||
| 1 (4.0%) |
30541486 |
Doyne honeycomb retinal dystrophy/malattia leventinese induced by EFEMP1 mutation in a Chinese family. Zhang K, Sun X, Chen Y, Zhong Q, Lin L, Gao Y, Hong F. BMC Ophthalmol. 2018;18(1):318. |
| Drusen | ||
| EFEMP1 | ||
| c|SUB|C|1033|T;RS#:121434491 p|SUB|R|345|W;RS#:121434491 | ||
| Adult Asians Cornea Extracellular Matrix Proteins Females Genetic Predisposition to Disease Homo sapiens Male Middle Aged Missense Mutation Optic Disk Drusen Visual Acuity | ||
| 1 (4.0%) |
27327295 |
Optical Coherence Tomography Angiography Demonstration of Choroidal Neovascularization in Malattia Leventinese. Corbelli E, Corvi F, Carnevali A, Querques L, Zucchiatti I, Bandello F, Querques G. Ophthalmic Surg Lasers Imaging Retina. 2016;47(6):602-4. |
| Choroidal neovascularization | ||
| Choroid Choroidal Neovascularization Females Fluorescein Angiography Homo sapiens Middle Aged Optic Disk Drusen Retina Tomography, Optical Coherence | ||
| 1 (4.0%) |
22496012 |
Multimodal imaging of autosomal dominant drusen. Zweifel SA, Maygar I, Berger W, Tschuor P, Becker M, Michels S. Klin Monbl Augenheilkd. 2012;229(4):399-402. |
| Macular degeneration | ||
| EFEMP1 | ||
| c|SUB|C|1033|T;RS#:121434491 p|SUB|R|345|W;RS#:121434491 | ||
| Adult Colorimetry Females Fluorescein Angiography Genes, Dominant Genetic Predisposition to Disease Homo sapiens Optic Disk Drusen Subtraction Technique Tomography, Optical Coherence | ||
| 1 (4.0%) |
21661668 |
Diffuse retinal pigment epithelial disease in an adult with cystic fibrosis. Goren JF, Shah SP, Janzen GP, Gross NE, Duker JS. Ophthalmic Surg Lasers Imaging. 2011;42 Online:e56-8. |
| Glomerulonephritis | ||
| Adult Choroidal Neovascularization Cystic Fibrosis Females Fluorescein Angiography Homo sapiens Retinal Diseases Retinal Drusen Retinal Hemorrhage Tomography, Optical Coherence | ||
| 1 (4.0%) |
21267723 |
[Maculopathy with subretinal yellow deposits]. Terai N, Sandner D, Hadjiraftis S, Pillunat LE. Ophthalmologe. 2011;108(5):467-72. |
| Choroidal neovascularization | ||
| Blindness Females Homo sapiens Middle Aged Optic Disk Drusen | ||
| 1 (4.0%) |
18791549 (2734481) |
Retinal microstructure in patients with EFEMP1 retinal dystrophy evaluated by Fourier domain OCT. Gerth C, Zawadzki RJ, Werner JS, Heon E. Eye (Lond). 2009;23(2):480-3. |
| Sub-RPE deposits | ||
| EFEMP1 | ||
| c|SUB|R|345|W;RS#:121434491 | ||
| Adult Electroretinography Extracellular Matrix Proteins Eye Diseases, Hereditary Homo sapiens Male Middle Aged Mutation Retina Retinal Degeneration Tomography, Optical Coherence Visual Acuity | ||
| 1 (4.0%) |
17937032 |
[Doyne retinal dystrophy--case report]. Preda M, Damian C, Manescu R, Davidescu L, Irimia A, Ciuca CA, Sollosy M. Oftalmologia. 2007;51(2):37-40. |
| Drusen | ||
| ERG | ||
| Dark Adaptation Eye Proteins Females Fluorescein Angiography G-Protein-Coupled Receptors Homo sapiens Ophthalmoscopy Retinal Degeneration Vision Disorders | ||
| 1 (4.0%) |
16259324 |
Proximal 6q interstitial deletion without severe mental retardation. Myers SM, Challman TD. Genet Couns. 2005;16(3):269-76. |
| Visual loss | ||
| Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 6 Females Homo sapiens Intellectual Disability Severity of Illness Index | ||
| 1 (4.0%) |
15785976 |
[Optical coherence tomography in Malattia Leventinese]. Gaillard MC, Wolfensberger TJ, Uffer S, Mantel I, Pournaras JA, Schorderet DF, Munier FL. Klin Monbl Augenheilkd. 2005;222(3):180-5. |
| Macular dystrophy | ||
| p|SUB|R|345|W | ||
| Adult Chromosome Aberrations DNA Mutational Analysis Disease Progression Extracellular Matrix Proteins Females Genes, Dominant Homo sapiens Middle Aged Ophthalmoscopy Optic Disk Optic Disk Drusen Pigment Epithelium of Eye Sensitivity and Specificity Tomography, Optical Coherence |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 10
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0011510 | Drusen | 5 |
| HP:0000608 | Macular degeneration | 4 |
| HP:0007754 | Macular dystrophy | 3 |
| HP:0000099 | Glomerulonephritis | 1 |
| HP:0000545 | Myopia | 1 |
| HP:0000572 | Visual loss | 1 |
| HP:0011506 | Choroidal neovascularization | 1 |
| HP:0025243 | Subretinal hemorrhage | 1 |
| HP:0025582 | Submacular hemorrhage | 1 |
| HP:0031526 | Subretinal fluid | 1 |