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.
Study Type
OBSERVATIONAL
Enrollment
17,000
Fundus retina pattern study
Fundus reflectance-functionality
Fine tomography fundus retina
Retina and Genomics Institute
Mérida, Yucatán, Mexico
RECRUITINGGene-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.
Time frame: 8 years
Preliminary Natural History
Ocular exam, retina analysis, autofluorescence and OCTs will be described in time frame
Time frame: 5 years
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.
Molecular target retina dystrophy analysis