| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (5.0%) |
28225373 |
Outer Retinal Tubulation: A Case Series. Rousso LA, Rodman JA, Sutton B, Shechtman DL. Optom Vis Sci. 2017;94(3):423-431. |
| Myopia | ||
| Aged, 80 and over Choroid Diseases Females Histoplasmosis Homo sapiens Male Middle Aged Myopia, Degenerative Retinal Dystrophies Retinal Photoreceptor Cell Outer Segment Tomography, Optical Coherence | ||
| 1 (5.0%) |
19696794 |
Central areolar choroidal dystrophy associated with inherited drusen in a multigeneration Tunisian family: exclusion of the PRPH2 gene and the 17p13 locus. Ouechtati F, Belhadj Tahar O, Mhenni A, Chakroun S, Chouchene I, Oueslati S, Rebai A, Abdelhak S, Jeddi-Blouza A. J Hum Genet. 2009;54(10):589-94. |
| Drusen | ||
| CACD PRPH PRPH2 | ||
| Adult Aged, 80 and over Choroid Diseases Chromosomes, Human, Pair 17 Eye Diseases, Hereditary Family Family Characteristics Females Homo sapiens Intermediate Filament Proteins Male Membrane Glycoproteins Middle Aged Nerve Tissue Proteins Peripherins Retinal Drusen Tunisia | ||
| 1 (5.0%) |
18767495 |
[The ocular features in a father and a son with central areolar choroidal dystrophy]. Okuno T, Oku H, Sugasawa J, Hamamura HW, Nakamura K, Ikeda T. Nippon Ganka Gakkai Zasshi. 2008;112(8):688-94. |
| Chorioretinal atrophy | ||
| Adult Choroid Diseases Electrooculography Electroretinography Homo sapiens Male Tomography, Optical Coherence | ||
| 1 (5.0%) |
17687913 |
[Central aleolar choroidal dystrophy in sibilings coexisting with alopecia]. Brydak-Godowska J, Drobecka-Brydak E, Packowska M, Kecik D. Klin Oczna. 2007;109(1-3):49-51. |
| Glaucoma | ||
| ERG | ||
| Adult Alopecia Choroid Choroid Diseases Electroretinography Females Fluorescein Angiography Homo sapiens Male Pigment Epithelium of Eye Sibling | ||
| 1 (5.0%) |
17148040 |
Late-onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/RDS gene. Keilhauer CN, Meigen T, Stohr H, Weber BH. Ophthalmic Genet. 2006;27(4):139-44. |
| Retinopathy | ||
| PRPH PRPH2 | ||
| c|DEL|920|T p|FS|L|307||83 | ||
| Choroid Diseases Females Fluorescein Angiography Genetic Carrier Screening Heterozygote Homo sapiens Intermediate Filament Proteins Membrane Glycoproteins Nerve Tissue Proteins Peripherins Retinal Degeneration Sibling Visual Fields | ||
| 1 (5.0%) |
9855164 |
Abnormal cone synapses in human cone-rod dystrophy. Gregory-Evans K, Fariss RN, Possin DE, Gregory-Evans CY, Milam AH. Ophthalmology. 1998;105(12):2306-12. |
| Ataxia | ||
| Adult Aged, 80 and over Cell Count Cerebellar Ataxia Choroid Diseases Females Fluorescent Antibody Technique, Indirect Homo sapiens Laurence-Moon Syndrome Male Middle Aged Photoreceptor Cells, Vertebrate Retinal Degeneration Synapses | ||
| 1 (5.0%) |
9734800 |
Retinitis pigmentosa inversa. Ferrucci S, Anderson SF, Townsend JC. Optom Vis Sci. 1998;75(8):560-70. |
| Retinopathy | ||
| Adult Blindness Differential Diagnosis Follow-Up Studies Homo sapiens Male Photoreceptor Cells, Vertebrate Pigment Epithelium of Eye Retinitis Pigmentosa Scotoma Visual Acuity Visual Fields | ||
| 1 (5.0%) |
9017060 |
Central areolar choroidal dystrophy and slowly progressive sensorineural hearing loss. Hoyng CB, van Rijn PM, Deutman AF. Acta Ophthalmol Scand. 1996;74(6):639-41. |
| Central scotoma | ||
| CACD | ||
| Audiometry Choroid Diseases Disease Progression Females Fluorescein Angiography Homo sapiens Male Middle Aged Scotoma Visual Acuity | ||
| 1 (5.0%) |
8198367 |
Photoreceptor dysfunction in central areolar choroidal dystrophy. Rothman RJ. Ann Ophthalmol. 1994;26(1):25-30. |
| Macular dystrophy | ||
| CACD | ||
| Adult Choroid Diseases Electroretinography Females Homo sapiens | ||
| 1 (5.0%) |
8015786 |
A variant of central areolar choroidal dystrophy. Chopdar A. Ophthalmic Paediatr Genet. 1993;14(4):151-64. |
| Chorioretinal atrophy | ||
| rs61755792 | ||
| Adult Age of Onset Choroid Diseases Color Perception Females Fluorescein Angiography Gene Frequency Homo sapiens Male Middle Aged United Kingdom Visual Acuity Visual Fields |
Total: 17
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0030631 | Hyperautofluorescent macular lesion | Very frequent (99-80%) |
| HP:0031152 | Full-thickness macular hole | Very frequent (99-80%) |
| HP:0000505 | Visual impairment | Frequent (79-30%) |
| HP:0000572 | Visual loss | Frequent (79-30%) |
| HP:0007401 | Macular atrophy | Frequent (79-30%) |
| HP:0007663 | Reduced visual acuity | Frequent (79-30%) |
| HP:0007894 | Hypopigmentation of the fundus | Frequent (79-30%) |
| HP:0007924 | Slow decrease in visual acuity | Frequent (79-30%) |
| HP:0030615 | Foveal photoreceptor outer segment loss on macular OCT | Frequent (79-30%) |
| HP:0000533 | Chorioretinal atrophy | Occasional (29-5%) |
| HP:0007814 | Retinal pigment epithelial mottling | Occasional (29-5%) |
| HP:0007980 | Absent retinal pigment epithelium | Occasional (29-5%) |
| HP:0011510 | Drusen | Occasional (29-5%) |
| HP:0030491 | Choriocapillaris atrophy | Occasional (29-5%) |
| HP:0030629 | Perifoveal ring of hyperautofluorescence | Occasional (29-5%) |
| HP:0000662 | Nyctalopia | Very rare (4-1%) |
| HP:0007641 | Dyschromatopsia | Very rare (4-1%) |
Total: 6
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0007754 | Macular dystrophy | 2 |
| HP:0000488 | Retinopathy | 1 |
| HP:0000545 | Myopia | 1 |
| HP:0000608 | Macular degeneration | 1 |
| HP:0001251 | Ataxia | 1 |
| HP:0031609 | Geographic atrophy | 1 |