| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
29559409 |
Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D. Stunkel ML, Brodie SE, Cideciyan AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV. Am J Ophthalmol. 2018;190:58-68. |
| Blindness | ||
| p|SUB|R|768|W;RS#:61750168 | ||
| Child Cone-Rod Dystrophies Dark Adaptation Electroretinography Eye Diseases, Hereditary Females Genes, Recessive Genetic Diseases, X-Linked Guanylate Cyclase Homo sapiens Leber Congenital Amaurosis Male Middle Aged Mutation Myopia Nyctalopia Ocular Refraction Photic Stimulation Receptors, Cell Surface Retinitis Pigmentosa Retrospective Studies Visual Acuity Visual Fields | ||
| 1 (4.0%) |
18188797 |
[The use of optical coherence tomography in hereditary optic neuropathies: description of a family]. Sanchez-Tocino H, Andres-Santos A, Pascual-Gonzalez P, Sanchidrian-Mayo M. Arch Soc Esp Oftalmol. 2008;83(1):57-62. |
| Visual loss | ||
| Adult Females Homo sapiens Male Optic Atrophy 1 Tomography, Optical Coherence | ||
| 1 (4.0%) |
10396378 |
Sorsby's fundus dystrophy: a case report of 24 years follow-up with electrodiagnostic tests and indocyanine green angiography. Lip PL, Good PA, Gibson JM. Eye (Lond). 1999;13 ( Pt 1):16-25. |
| Chorioretinal atrophy | ||
| Adult Disease Progression Females Follow-Up Studies Homo sapiens Visual Fields | ||
| 1 (4.0%) |
7067594 |
X-recessive angiopathic opticopathy. Bastiaensen LA, Vandoninck JJ. Doc Ophthalmol. 1982;52(3-4):227-39. |
| Glaucoma | ||
| Adult Age Factors Child Child, Preschool Females Fluorescein Angiography Genes, Recessive Homo sapiens Infant Male Optic Atrophy Scotoma Sex Chromosomes Sex Factors X Chromosome | ||
| 1 (4.0%) |
3956358 |
Cone function and cone interaction in hereditary degenerations of the central retina. Zrenner E, Nowicki J, Adamczyk R. Doc Ophthalmol. 1986;62(1):5-12. |
| Color vision defect | ||
| Adult Choroid Electrooculography Electroretinography Females Homo sapiens Male Middle Aged Retinal Degeneration Uveal Diseases | ||
| 1 (4.0%) |
3876823 |
Differential diagnosis of congenital tritanopia and dominantly inherited juvenile optic atrophy. Miyake Y, Yagasaki K, Ichikawa H. Arch Ophthalmol. 1985;103(10):1496-501. |
| Optic atrophy | ||
| ERG | ||
| Adult Child Differential Diagnosis Electroretinography Females Homo sapiens Male Middle Aged Optic Atrophy | ||
| 1 (4.0%) |
3264866 |
[Blue cone monochromasia: diagnosis, genetic counseling and optical aids]. Zrenner E, Magnussen S, Lorenz B. Klin Monbl Augenheilkd. 1988;193(5):510-7. |
| Nystagmus | ||
| Adult Child Color Perception Tests Genes, Recessive Genetic Counseling Homo sapiens Male Sex Chromosome Aberrations Visual Acuity X Chromosome | ||
| 1 (4.0%) |
2789001 |
Autosomal dominantly inherited macular dystrophy with preferential short-wavelength sensitive cone involvement. Bresnick GH, Smith VC, Pokorny J. Am J Ophthalmol. 1989;108(3):265-76. |
| Color vision defect | ||
| Adult Child Color Perception Tests Electroretinography Females Homo sapiens Male Middle Aged | ||
| 1 (4.0%) |
2776631 |
Recovery after severe ethambutol intoxication--psychophysical and electrophysiological correlations. Nasemann J, Zrenner E, Riedel KG. Doc Ophthalmol. 1989;71(3):279-92. |
| Optic atrophy | ||
| OAS3 | ||
| Color Perception Electrooculography Females Fluorescein Angiography Homo sapiens Male Middle Aged Optic Atrophy Tuberculosis, Pulmonary Visual Acuity Visual Fields |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 8
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000603 | Central scotoma | 2 |
| HP:0000572 | Visual loss | 1 |
| HP:0000608 | Macular degeneration | 1 |
| HP:0000648 | Optic atrophy | 1 |
| HP:0000980 | Pallor | 1 |
| HP:0001009 | Telangiectasia | 1 |
| HP:0002315 | Headache | 1 |
| HP:0011521 | Deuteranopia | 1 |