Genetic Analysis and Multimodal Retinal Imaging of Asymptomatic Fovea Plana Cases in the General Population (APOGEE)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT04658381|
Recruitment Status : Recruiting
First Posted : December 8, 2020
Last Update Posted : March 3, 2022
Albinism is a genetic condition, resulting from mutations in at least 19 known genes responsible for the production of melanin in the skin, hair and eyes.
Ophthalmological manifestations are a constant feature of this disease. Albinism is believed to be responsible for 5% of visual impairments worldwide and all albino patients have some degree of fovea plana. In the milder forms, it is a slightly less marked foveolar depression with conservation of the normal diameter of the cones and, therefore, good visual function.
In addition to its known association with various ocular pathologies such as albinism, aniridia, nanophthalmia and retinopathy of prematurity, fovea plana was found in 3% of a population of normal children (without known ocular or systemic pathology) in a study conducted in 2014 to determine a pediatric normative basis for macular volume measured by optical coherence imaging (Stratus OCT).
More recently, a study carried out at the Hospital Foundation Adolphe de Rothschild showed that at least 35% of parents of albino children, who are totally asymptomatic, present with fovea plana in OCT. This frequency is higher than the 3% prevalence of fovea plana in asymptomatic subjects without a family history of albinism, suggesting a modulation of heterozygosity for a known gene for albinism.
The aim of this study is to verify, in patients with fortuitously discovered fovea plana (preoperative OCT for cataract surgery), with conservation of visual function and without known or manifest albinism, whether they are carriers of mutation in one of the genes referenced for albinism. This will also allow us to characterize these foveolar profiles in OCT according to the classification of Thomas et al., as well as in terms of retinal capillary density in OCT-Angiography, in order to know whether it is the same type of fovea plana or if the phenotype differs depending on the genetic damage.
|Condition or disease||Intervention/treatment||Phase|
|Fovea Plana Albinism||Genetic: Genetic analysis Procedure: Ophthalmologic exam||Not Applicable|
|Study Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||20 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Genetic Analysis and Multimodal Retinal Imaging of Asymptomatic Fovea Plana Cases in the General Population|
|Actual Study Start Date :||December 17, 2020|
|Estimated Primary Completion Date :||June 2022|
|Estimated Study Completion Date :||February 2023|
|Experimental: Genetic analysis||
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
- Describe the results of genetic analysis for the various variants of known genes involved in albinism and in genetic pathologies associated with fovea plana [ Time Frame: 2 years ]Genetic sampling carried out for the study. Patient exome sequencing. The analysis will only concern genes involved in albinism and in genetic pathologies associated with fovea plana
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04658381
|Contact: Amélie YAVCHITZ, MD||(0)1 48 03 64 33 ext +firstname.lastname@example.org|
|Contact: Raphaël LEJOYEUX, MDemail@example.com|
|Hôpital Fondation A. de Rothschuld||Recruiting|
|Paris, France, 75019|
|Contact: Raphaël LEJOYEUX|
|Principal Investigator:||Raphaël LEJOYEUX, MD||Hôpital Fondation A. de Rothschild|