Teams
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Dominique Brémond-Gignac
>> Reference Center for Rare Diseases
OPHTARA - Rare ophthalmological diseases -
Imagine's Offers
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Leber Congenital Amaurosis (LCA)
Leber Congenital Amaurosis (LCA)Genotype PhenotypeTargetsTherapeuticsClinical trialsOther retinal dystrophies
Rod-cone dystrophies including X-linked retinitis pigmentosa (XLRP)Genotype PhenotypeTargetsTherapeuticsClinical trialsCone-rod dystrophiesGenotype PhenotypeTargetsTherapeuticsClinical trialsCone dystrophiesGenotype PhenotypeTargetsTherapeuticsClinical trialsMacular dystrophies
Stargardt diseaseGenotype PhenotypeTargetsTherapeuticsClinical trialsBest diseaseGenotype PhenotypeTargetsTherapeuticsClinical trials -
ALDH1A3 deficiency
ALDH1A3 deficiencyGenotype PhenotypeTargetsTherapeuticsClinical trialsPersistent Fetal Vasculature (PFV)
Persistent Fetal Vasculature (PFV)Genotype PhenotypeTargetsTherapeuticsClinical trialsColobomas
CHARGE syndrome (CHD7)Genotype PhenotypeTargetsTherapeuticsClinical trialsCat Eye syndromeGenotype PhenotypeTargetsTherapeuticsClinical trialsOther syndromic and non-syndromic colobomasGenotype PhenotypeTargetsTherapeuticsClinical trials -
Leber HON (LHON)
Leber HON (LHON)Genotype PhenotypeTargetsTherapeuticsClinical trialsAutosomal recessive ON (ARONs)
Wolfram diseaseGenotype PhenotypeTargetsTherapeuticsClinical trialsOthersGenotype PhenotypeTargetsTherapeuticsClinical trialsAutosomal Dominant ON (ADONs)
Autosomal Dominant ON (ADONs)Genotype PhenotypeTargetsTherapeuticsClinical trials -
AchromatopsiaGenotype PhenotypeTargetsTherapeuticsClinical trialsS-cone monochromatismGenotype PhenotypeTargetsTherapeuticsClinical trialsOligocone trichromacyGenotype PhenotypeTargetsTherapeuticsClinical trials
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CSNB with normal fundus
CSNB Type 1Genotype PhenotypeTargetsTherapeuticsClinical trialsCSNB Type 2Genotype PhenotypeTargetsTherapeuticsClinical trialsCSNB with abnormal fundus
CSNB with abnormal fundusGenotype PhenotypeTargetsTherapeuticsClinical trials -
Axenfeld and Rieger abnormalities and syndromes
Axenfeld and Rieger abnormalities and syndromesGenotype PhenotypeTargetsTherapeuticsClinical trialsPeters abnormality and syndrome
Peters abnormality and syndromeGenotype PhenotypeTargetsTherapeuticsClinical trialsAniridia
Aniridia due to mutations in PAX6Genotype PhenotypeTargetsTherapeuticsClinical trialsGillespie syndromeGenotype PhenotypeTargetsTherapeuticsClinical trials13q32.1 deletion syndrome congenital microcoria (MCOR)Genotype PhenotypeTargetsTherapeuticsClinical trialsWAGR syndromeGenotype PhenotypeTargetsTherapeuticsClinical trials -
Isolated
Isolated congenital and infantile cataractsGenotype PhenotypeTargetsTherapeuticsClinical trialsSyndromic
Lowe syndromeGenotype PhenotypeTargetsTherapeuticsClinical trialsCockayne syndrome and other disorders of DNA repairGenotype PhenotypeTargetsTherapeuticsClinical trialsCerebrotendinous xanthomatosisGenotype PhenotypeTargetsTherapeuticsClinical trials -
Optic Pathways Gliomas (OPG)Genotype PhenotypeTargetsTherapeuticsClinical trialsRetinoblastomasGenotype PhenotypeTargetsTherapeuticsClinical trials
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Familial exsudative vitreo-retinopathiesGenotype PhenotypeTargetsTherapeuticsClinical trialsSickle cell diseaseGenotype PhenotypeTargetsTherapeuticsClinical trialsIncontinentia pigmentiGenotype PhenotypeTargetsTherapeuticsClinical trials
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Neurofibromatosis type 1Genotype PhenotypeTargetsTherapeuticsClinical trialsTuberous sclerosis (Bourneville)Genotype PhenotypeTargetsTherapeuticsClinical trialsvon Hippel-Lindau diseaseGenotype PhenotypeTargetsTherapeuticsClinical trials
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Optic nerve hypoplasias
IsolatedGenotype PhenotypeTargetsTherapeuticsClinical trialsSepto-optic dysplasiaGenotype PhenotypeTargetsTherapeuticsClinical trialsMorning glory disk abnormality
Morning glory disk abnormalityGenotype PhenotypeTargetsTherapeuticsClinical trialsOptic nerve colobomas
Optic nerve colobomasGenotype PhenotypeTargetsTherapeuticsClinical trials -
Isolated
Isolated congenital and infantile glaucomasGenotype PhenotypeTargetsTherapeuticsClinical trialsSyndromic
Anterior segment dysgenesisGenotype PhenotypeTargetsTherapeuticsClinical trialsSturge-Weber syndromeGenotype PhenotypeTargetsTherapeuticsClinical trials
Contacts
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Thibaut PERCHET
Business development manager
- thibaut.perchet@institutimagine.org
- +33 1 42 75 42 55