Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.

ABSTRACT:

Purpose

To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH).

Design

Multicenter, observational study.

Participants

A 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).

Methods

Individuals 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 measures

Grade of FH, presence or absence of photoreceptor specializatio

SUBMITTER: Kuht HJ 

PROVIDER: S-EPMC9341240 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature