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

NCT ID: NCT04658381

Last Updated: 2026-01-06

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 20 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2020-12-17
• Study Completion Date: 2023-11-02

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

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: SCREENING
• Blinding Strategy: NONE

Study Groups

Genetic analysis

Group Type: EXPERIMENTAL

Genetic analysis

Intervention Type: 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.

Ophthalmologic exam

Intervention Type: PROCEDURE

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

Interventions

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.

Intervention Type: GENETIC

Ophthalmologic exam

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

Intervention Type: PROCEDURE

Eligibility Criteria

Inclusion Criteria

• 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;

Exclusion Criteria

• 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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Fondation Ophtalmologique Adolphe de Rothschild

NETWORK

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Raphaël LEJOYEUX, MD

Role: PRINCIPAL_INVESTIGATOR

Hôpital Fondation A. de Rothschild

Locations

Hôpital Fondation A. de Rothschuld

Paris, , France

Countries

France

References

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.

Reference Type: RESULT

PMID: 40546025 (View on PubMed)

Other Identifiers

RLX_2020_27

Identifier Type: -

Identifier Source: org_study_id