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

dc.rights.licenseopenen_US
dc.contributor.authorKUHT, Helen J
dc.contributor.authorMACONACHIE, Gail D E
dc.contributor.authorHAN, Jinu
dc.contributor.authorKESSEL, Line
dc.contributor.authorVAN GENDEREN, Maria M
dc.contributor.authorMCLEAN, Rebecca J
dc.contributor.authorHISAUND, Michael
dc.contributor.authorTU, Zhanhan
dc.contributor.authorHERTLE, Richard W
dc.contributor.authorGRONSKOV, Karen
dc.contributor.authorBAI, Dayong
dc.contributor.authorWEI, Aihua
dc.contributor.authorLI, Wei
dc.contributor.authorJIAO, Yonghong
dc.contributor.authorSMIRNOV, Vasily
dc.contributor.authorCHOI, Jae-Hwan
dc.contributor.authorTOBIN, Martin D
dc.contributor.authorSHETH, Viral
dc.contributor.authorPUROHIT, Ravi
dc.contributor.authorDAWAR, Basu
dc.contributor.authorGIRACH, Ayesha
dc.contributor.authorSTRUL, Sasha
dc.contributor.authorMAY, Laura
dc.contributor.authorCHEN, Fred K
dc.contributor.authorHEATH JEFFERY, Rachael C
dc.contributor.authorAAMIR, Abdullah
dc.contributor.authorSANO, Ronaldo
dc.contributor.authorJIN, Jing
dc.contributor.authorBROOKS, Brian P
dc.contributor.authorKOHL, Susanne
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorARVEILER, Benoit
dc.contributor.authorMONTOLIU, Lluis
dc.contributor.authorENGLE, Elizabeth C
dc.contributor.authorPROUDLOCK, Frank A
dc.contributor.authorNISHAD, Garima
dc.contributor.authorPANI, Prateek
dc.contributor.authorVARMA, Girish
dc.contributor.authorGOTTLOB, Irene
dc.contributor.authorTHOMAS, Mervyn G
dc.date.accessioned2023-06-28T13:11:50Z
dc.date.available2023-06-28T13:11:50Z
dc.date.issued2022-06-01
dc.identifier.issn1549-4713en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/183232
dc.description.abstractEnTo characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH). Multicenter, observational study. 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). 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. Grade of FH, presence or absence of photoreceptor specialization (PRS+ vs. PRS-), molecular diagnosis, and visual acuity (VA). The 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. We 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.
dc.language.isoENen_US
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/us/*
dc.subjectFoveal hypoplasia
dc.subjectOptical coherence tomography
dc.subjectGenetics
dc.subjectRetinal development
dc.subjectGenotype-phenotype correlation
dc.title.enGenotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
dc.title.alternativeOphthalmologyen_US
dc.typeArticle de revueen_US
dc.identifier.pubmed35157951en_US
bordeaux.page708-718en_US
bordeaux.volume129en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue6en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
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