Observational studyOphthalmology2022
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Observational study in Ophthalmology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 63 citations in OpenAlex.
- The relationship between foveal anatomy and retinal function in oculocutaneous albinism.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Unveiling ocular developmental disorders through short-read whole-genome sequencing.European journal of human genetics : EJHG · 2026Article
- Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and long-read nanopore sequencing.European journal of human genetics : EJHG · 2026Article
- Development of the zebrafish foveal analogue: a quantitative atlas of high-acuity zone growth and retinal regionalisation.Biology open · 2026Article
- Novel Quantitative Metrics for Foveal Hypoplasia Derived from Optical Coherence Tomography Angiography Using AngioTool.Journal of clinical medicine · 2026Article
- 3D epigenomic landscape of the human retinal pigment epithelium.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Genome-wide association and multi-omics functional screens reveal the genetic architecture of foveal development.medRxiv : the preprint server for health sciences · 2026Article
- [Albinism: Clinical presentation, diagnostics and visual function].Die Ophthalmologie · 2026Review
- Bilateral bifoveate retina in a human resembling lizard foveal architecture.Ophthalmic genetics · 2026Article
- "Time to See" in Infantile Nystagmus.Investigative ophthalmology & visual science · 2026Article
- Quantifying functional vision in a mouse model of oculocutaneous albinism type 1.Scientific reports · 2026Article
- A Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling.Translational vision science & technology · 2026Article
- Genetic Landscape and Clinical Characterization of FRMD7-Related Infantile Nystagmus Based on Large In-House Datasets and Literature Review.Investigative ophthalmology & visual science · 2026Review
- Integration of in situ hybridization and scRNA-seq data provides a 2D topographical map of the developing retina across species.bioRxiv : the preprint server for biology · 2026Article
- Concentric macular rings and OCT corrugations in foveal hypoplasia: proof of concept for an optical interference mechanism.International journal of retina and vitreous · 2025Article
- Alterations of Photoreceptor Synaptic Ribbons in the Retina of a Human Patient With Oculocutaneous Albinism Type 1 (OCA1).Investigative ophthalmology & visual science · 2025Article
- Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia.Investigative ophthalmology & visual science · 2025Article
- Grading of Foveal Hypoplasia Using Deep Learning on Retinal Fundus Images.Translational vision science & technology · 2025Article
- Assessment of visual acuity in Python regius using optokinetic response.Veterinary ophthalmology · 2025Article
- Foveal Hypoplasia Grading with Optical Coherence Tomography: Agreement and Challenges Across Experience Levels.Diagnostics (Basel, Switzerland) · 2025Article
Corrections and comments
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Authors and funding
39 authors at 20 institutions in 12 countries.
Funding
Abstract
purposeTo characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH).
designMulticenter, observational study.
participantsA total of 907 patients with a confirmed molecular diagnosis of albinism, PAX6, SLC38A8, FRMD7, AHR, or achromatopsia from 12 centers in 9 countries (n = 523) or extracted from publicly available datasets from previously reported literature (n = 384).
methodsIndividuals with a confirmed molecular diagnosis and availability of foveal OCT scans were identified from 12 centers or from the literature between January 2011 and March 2021. A genetic diagnosis was confirmed by sequence analysis. Grading of FH was derived from OCT scans.
main outcome measuresGrade of FH, presence or absence of photoreceptor specialization (PRS+ vs. PRS-), molecular diagnosis, and visual acuity (VA).
resultsThe most common genetic etiology for typical FH in our cohort was albinism (67.5%), followed by PAX6 (21.8%), SLC38A8 (6.8%), and FRMD7 (3.5%) variants. AHR variants were rare (0.4%). Atypical FH was seen in 67.4% of achromatopsia cases. Atypical FH in achromatopsia had significantly worse VA than typical FH (P < 0.0001). There was a significant difference in the spectrum of FH grades based on the molecular diagnosis (chi-square = 60.4, P < 0.0001). All SLC38A8 cases were PRS- (P = 0.003), whereas all FRMD7 cases were PRS+ (P < 0.0001). Analysis of albinism subtypes revealed a significant difference in the grade of FH (chi-square = 31.4, P < 0.0001) and VA (P = 0.0003) between oculocutaneous albinism (OCA) compared with ocular albinism (OA) and Hermansky-Pudlak syndrome (HPS). Ocular albinism and HPS demonstrated higher grades of FH and worse VA than OCA. There was a significant difference (P < 0.0001) in VA between FRMD7 variants compared with other diagnoses associated with FH.
conclusionsWe characterized the phenotypic and genotypic spectrum of FH. Atypical FH is associated with a worse prognosis than all other forms of FH. In typical FH, our data suggest that arrested retinal development occurs earlier in SLC38A8, OA, HPS, and AHR variants and later in FRMD7 variants. The defined time period of foveal developmental arrest for OCA and PAX6 variants seems to demonstrate more variability. Our findings provide mechanistic insight into disorders associated with FH and have significant prognostic and diagnostic value.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.