Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.266
Abstract: Foveal hypoplasia (FH) in the absence of albinism, aniridia, microphthalmia, or achromatopsia is exceedingly rare, and the molecular basis for the disorder remains unknown. FH is characterized by the absence of both the retinal foveal… read more here.
Keywords: modeling novel; novel slc38a8; structural modeling; foveal hypoplasia ... See more keywords
PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-020-00737-1
Abstract: PAX6 is considered the master regulator of eye development, the majority of variants affecting this gene cause the pan-ocular developmental eye disorder aniridia. Although no genotype-phenotype correlations are clearly established, missense variants affecting the DNA-binding… read more here.
Keywords: pax6; mosaicism; evidence; isolated foveal ... See more keywords
Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-90896-y
Abstract: To describe the phenotype of Dutch patients with oculocutaneous albinism type 4 (OCA4), we collected data on pigmentation (skin, hair, and eyes), visual acuity (VA), nystagmus, foveal hypoplasia, chiasmal misrouting, and molecular analyses of nine… read more here.
Keywords: oculocutaneous albinism; patients oculocutaneous; foveal hypoplasia; dutch patients ... See more keywords
Expanding the mutational spectrum of FHONDA syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2023.2175873
Abstract: AIM The aim of the study is to present a rare case of Foveal Hypoplasia, Optic Nerve Decussation defects, and Anterior segment dysgenesis (FHONDA) confirmed by genetic testing with two separate pathogenic mutations in the… read more here.
Keywords: foveal hypoplasia; mutational spectrum; fhonda; expanding mutational ... See more keywords
RETINAL THICKNESS AND FOVEAL HYPOPLASIA IN ADULTS BORN PRETERM WITH AND WITHOUT RETINOPATHY OF PREMATURITY
Sign Up to like & getrecommendations! Published in 2022 at "Retina"
DOI: 10.1097/iae.0000000000003501
Abstract: Supplemental Digital Content is Available in the Text. This study investigated the long-term effects of prematurity on macular morphology in adulthood indicating that fetal origins affect foveal shape, resulting in foveal hypoplasia potentially affecting the… read more here.
Keywords: hypoplasia; prematurity; foveal hypoplasia; retinal thickness ... See more keywords
Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia
Sign Up to like & getrecommendations! Published in 2021 at "BMC Ophthalmology"
DOI: 10.1186/s12886-021-01905-7
Abstract: Background Pathogenic variants of G-protein coupled receptor 143 (GPR143) gene often leads to ocular albinism type I (OA1) characterized by nystagmus, iris and fundus hypopigmentation, and foveal hypoplasia. In this study, we identified a novel… read more here.
Keywords: large chinese; family; foveal hypoplasia; gpr143 ... See more keywords
Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images
Sign Up to like & getrecommendations! Published in 2021 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1009497
Abstract: Optical Coherence Tomography (OCT) enables non-invasive imaging of the retina and is used to diagnose and manage ophthalmic diseases including glaucoma. We present the first large-scale genome-wide association study of inner retinal morphology using phenotypes… read more here.
Keywords: coherence tomography; optical coherence; genetic variation; foveal hypoplasia ... See more keywords
Foveal Hypoplasia in a Patient With High Myopia: Clinical and Imaging Diagnosis.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of pediatric ophthalmology and strabismus"
DOI: 10.3928/01913913-20220124-03
Abstract: The authors present an unusual case of a 6-year-old boy with myopia and foveal hypoplasia who was diagnosed by optical coherence tomography angiography. This case report presents the importance of using optical coherence tomography angiography… read more here.
Keywords: diagnosis; foveal hypoplasia; myopia; hypoplasia patient ... See more keywords