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

NCT04658381 | Completed

• 1 other identifier: RLX_2020_27
• Study Type: interventional
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Fovea Plana; Albinism

Keywords

Carriers; General population

Outcome Measures

Primary Outcomes (1)

• Describe the results of genetic analysis for the various variants of known genes involved in albinism and in genetic pathologies associated with fovea plana

  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

  2 years

Study Arms (1)

Genetic analysis

EXPERIMENTAL

Genetic: Genetic analysis; Procedure: Ophthalmologic exam

Interventions

Genetic analysis GENETIC

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.

Genetic analysis

Ophthalmologic exam PROCEDURE

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

Genetic analysis

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Patient over 18 years old;
• Diagnosis of fovea plana in one or both eyes, confirmed by two ophthalmologists blinded to each other from OCT-B imaging;

You may not qualify if:

• Known Albinism
• Known family history of albinism
• History of eye surgery other than cataract
• Alteration of macular visual function (loss of visual acuity independent of a disorder of the environments, central scotoma, metamorphopsies, etc.)
• Presence of another anomaly in OCT in addition to the fovea plana (epiretinal membrane, damage to the external retina, etc.)
• Syndromic fovea plana
• Pregnant or breastfeeding woman

Sponsors & Collaborators

• Fondation Ophtalmologique Adolphe de Rothschild: lead

Study Sites (1)

Hôpital Fondation A. de Rothschuld

Paris, 75019, France

Location

Related Publications (1)

• Lejoyeux R, Michaud V, Le Boite H, Plaisant C, Helot I, Philippe E, Lasseaux E, Vasseur V, Fessard K, Picard H, Le Cossec C, Bruneau S, Le Mer Y, Arveiler B, Couturier A, Bonnin S. Genetic analysis of participants with foveal hypoplasia. Ophthalmic Genet. 2025 Dec;46(6):559-562. doi: 10.1080/13816810.2025.2520411. Epub 2025 Jun 23.

  PMID: 40546025 RESULT

MeSH Terms

Conditions

Albinism

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Eye Diseases, Hereditary; Eye Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Skin Diseases, Genetic; Hypopigmentation; Pigmentation Disorders; Skin Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Raphaël LEJOYEUX, MD

  Hôpital Fondation A. de Rothschild

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: NETWORK
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 1, 2020
• First Posted: December 8, 2020
• Study Start: December 17, 2020
• Primary Completion: November 2, 2023
• Study Completion: November 2, 2023
• Last Updated: January 6, 2026

Record last verified: 2024-01

Locations

FR (1)