Research

X-linked Retinitis pigmentosa (XLRP) participants are invited to “My Retina Tracker Registry”, supported by Foundation Fighting Blindness

Foundation Fighting Blindness (FFB) are to invite a “Patient-Focused Drug Development” meeting, in the coming months, with Food and Drug Administration (FDA) representatives.  The objective… Read More »X-linked Retinitis pigmentosa (XLRP) participants are invited to “My Retina Tracker Registry”, supported by Foundation Fighting Blindness

Next-generation sequencing data on inherited macular dystrophies (MD) shows significant impact among 1,036 Spanish families

Researchers at the Instituto de Investigación Sanitaria–Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, has reported valuable clinical re-classifications from inherited dystrophies following next-generation… Read More »Next-generation sequencing data on inherited macular dystrophies (MD) shows significant impact among 1,036 Spanish families

Mutational and phenotypic spectrum in RPE65 patients including seven novel variants among inherited retinal dystrophies (IRD).

Researchers at the Department of Genetics & Genomics, Instituto de Investigacíon Sanitaria-Fundacíon Jiménez Díaz Madrid, have reported a recent study characterizing a mutational and phenotypic… Read More »Mutational and phenotypic spectrum in RPE65 patients including seven novel variants among inherited retinal dystrophies (IRD).