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| Name | Class |
|---|---|
| Maisonneuve-Rosemont Hospital | OTHER |
| Retina and Genomics Institute | UNKNOWN |
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Patients with retina dystrophies (retinitis pigmentosa, cone>rods dystrophies, Usher and syndromic) will be correlated with genotype and validate inheritance mode by segregation analysis.
Patients with retina dystrophies (retinitis pigmentosa, cone>rods dystrophies, Usher and syndromic, etc.) will be correlated with genotype and validate inheritance mode by segregation analysis. Ocular exam of proband, parents and two unaffected siblings is needed, retina analysis, autofluorescence and ocular coherence tomography (OCT) are needed as well as family map. Blood samples 10ml max blood extraction will be sent and genotype will be analyzed.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Retinitis pigmentosa | Any type of retina dystrophy with pigment / retinitis pigmentosa |
| |
| Usher Syndrome | Retina dystrophy or retinitis pigmentosa associated with audition problems |
| |
| Cone>rod syndromes | Retina dystrophy diagnosed or started in central vision. |
| |
| Retinitis pigmentosa sx | Retinitis pigmentosa with any type of other features |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Retina Analysis-mosaic | Diagnostic Test | Fundus retina pattern study |
|
| Measure | Description | Time Frame |
|---|---|---|
| Gene-molecular variation to correlate with phenotype based on autofluorescence, retina analysis, | Molecular variation correlates with specific phenotype based on autofluorescence, retina analysis, macular coherence tomography. | 8 years |
| Measure | Description | Time Frame |
|---|---|---|
| Preliminary Natural History | Ocular exam, retina analysis, autofluorescence and OCTs will be described in time frame | 5 years |
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Inclusion Criteria:
Exclusion Criteria:
1) Not willing to visit every year.
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Inherited retina dystrophies / Retinitis pigmentosa, LCA, Cone-rod dystrophy
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| A Villanueva, MD | Contact | 019992233623 | dr.villanueva@mejoravisionmd.com | |
| Gelly Cuevas, MS | Contact | +521 (999) 4060506 | research.biobanks@mejoravisionmd.com |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Retina and Genomics Institute | Recruiting | Mérida | Yucatán | 97130 | Mexico |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| Result | Villanueva, Adda L., et al. | ||
| Result | Villanueva, A. L., Langlois, M., Mongrain, I., Provost, S., Asselin, G., Dubé, M. P., ... & Ayyagari, R. (2015). ARRP microarray and Exome analysis revealed known and novel mutations in Mexican pedigrees. Investigative Ophthalmology & Visual Science, 56(7), 2866-2866. |
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It will be share by publication papers.
1a
To organism with known knowledge in the field. To expand analysis in same field. Via digital, by contacting administrator.
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| Autofluorescence | Diagnostic Test | Fundus reflectance-functionality |
|
| OCT- 1 micra | Diagnostic Test | Fine tomography fundus retina |
|
| Genotype analysis | Procedure | Molecular target retina dystrophy analysis |
|
| ID | Term |
|---|---|
| D012174 | Retinitis Pigmentosa |
| D000077765 | Cone Dystrophy |
| D052245 | Usher Syndromes |
| D058499 | Retinal Dystrophies |
| ID | Term |
|---|---|
| D015785 | Eye Diseases, Hereditary |
| D005128 | Eye Diseases |
| D012162 | Retinal Degeneration |
| D012164 | Retinal Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D054062 | Deaf-Blind Disorders |
| D003638 | Deafness |
| D034381 | Hearing Loss |
| D006311 | Hearing Disorders |
| D004427 | Ear Diseases |
| D010038 | Otorhinolaryngologic Diseases |
| D006319 | Hearing Loss, Sensorineural |
| D012678 | Sensation Disorders |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D001766 | Blindness |
| D014786 | Vision Disorders |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
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| ID | Term |
|---|---|
| D061848 | Optical Imaging |
| D005838 | Genotype |
| ID | Term |
|---|---|
| D003952 | Diagnostic Imaging |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
| D055614 | Genetic Phenomena |
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