Genetic Analysis and Multimodal Retinal Imaging of Asymptomatic Fovea Plana Cases in the General Population

NACompletedINTERVENTIONAL
Enrollment

20

Participants

Timeline

Start Date

December 17, 2020

Primary Completion Date

November 2, 2023

Study Completion Date

November 2, 2023

Conditions
Fovea PlanaAlbinism
Interventions
GENETIC

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.

PROCEDURE

Ophthalmologic exam

Standard ophthalmologic assessment (measurement of visual acuity, measurement of intraocular pressure, slit lamp examination), OCT-B scan, OCT-Angiography, Adaptive optics

Trial Locations (1)

75019

Hôpital Fondation A. de Rothschuld, Paris

All Listed Sponsors
lead

Fondation Ophtalmologique Adolphe de Rothschild

NETWORK

NCT04658381 - Genetic Analysis and Multimodal Retinal Imaging of Asymptomatic Fovea Plana Cases in the General Population | Biotech Hunter | Biotech Hunter