20
Participants
Start Date
December 17, 2020
Primary Completion Date
November 2, 2023
Study Completion Date
November 2, 2023
Genetic analysis
Patient exome sequencing will be performed by Illumina technology on the NextSeq 550 sequencer. Briefly, the exons of the genes are selected by capture and are amplified by PCR simultaneously, in a single reaction, and then sequenced by Illumina technology. The analysis will only concern genes involved in albinism and in genetic pathologies associated with fovea plana.
Ophthalmologic exam
Standard ophthalmologic assessment (measurement of visual acuity, measurement of intraocular pressure, slit lamp examination), OCT-B scan, OCT-Angiography, Adaptive optics
Hôpital Fondation A. de Rothschuld, Paris
Fondation Ophtalmologique Adolphe de Rothschild
NETWORK