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Genotypic and Phenotypic Spectrum of Foveal Hypoplasia A Multicenter Study

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Kuht Helen J[1] * ; Maconachie Gail DE[2] ; Han Jinu[3] ; Kessel Line[4,5] ; Van Genderen Maria M[6,7] ; McLean Rebecca J[1] ; Hisaund Michael[1] ; Tu Zhanhan[1] ; Hertle Richard W[8] ; Gronskov Karen[9] ; Bai Dayong[10] ; Wei Aihua[11] ; Li Wei[12] ; Jiao Yonghong[13] ; Smirnov Vasily[14] ; Choi Jae-Hwan[15] ; Tobin Martin D[16] ; Sheth BMedSci Viral[1] ; Purohit Ravi[1] ; Dawar Basu[1] ; Girach Ayesha[1] ; Strul Sasha[17] ; May Laura[17] ; Chen Fred K[18] ; Heath Jeffery Rachael C[18] ; Aamir Abdullah[1] ; Sano Ronaldo[19] ; Jin Jing[20] ; Brooks Brian P[21] ; Kohl Susanne[22] ; Arvelier Benoit[23] ; Montoliu Lluis[24] ; Engle Elizabeth C[25,26] ; Proudlock Frank A[1] ; Nishad Garima[27] ; Pani Prateek[27] ; Varma Girish[27] ; Gottlob Irene[1] ; Thomas Mervyn G[1] ; Foveal Development Investigators Group[1] ;
机构： [1]The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK [2]Academic Unit of Ophthalmology and Orthoptics, University of Sheffield, Sheffield, UK [3]Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea [4]Department of Ophthalmology, Rigshospitalet, Denmark [5]Department of Clinical Medicine, University of Copenhagen, Copenhagen Denmark [6]Department of Ophthalmology, University Medical Centre Utrecht, Utrecht, The Netherlands [7]Bartimeus Diagnostic Centre for complex visual disorders, Zeist, The Netherlands [8]Department of Ophthalmology, The Rebecca D. Considine Research Institute and The Children's Vision Center, Akron Children's Hospital, Akron Department of Surgery, The Northeastern Ohio Medical University, Rootstown, Ohio, USA [9]Department of Clinical Genetics, Rigshospitalet-Kennedy Center, Denmark [10]Department of Ophthalmology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijjing, China. [11]Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Bejjing, China. [12]Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute Rare Disease Center, National Center for Children's Health MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, Beijing, China. [13]Beijing Tongren Eye Centre, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Lab, Beijing, China. [14]Sorbonne Universite, Institut National de la Sante et de la Recherche Medicale, Centre National de [15]Recherche Scientifique, Institut de la Vision, Paris, France Exploration de la Vision et Neuro- Ophtalmologie, CHU de Lll, Llle, France. IDepartment of Neurology, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, South Korea [16]Department of Health Sciences, University of Leicester, United Kingdom. [17]Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota [18]Centre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, WA [19]Retina and Vitreous Sector of Santa Casa de Misericordia de Sao Paulo. [20]Sidney Kimmel Medical College of Thomas Jefferson University, Nemours Children's Health [21]Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA. [22]Centre for Ophthalmology, Institute for Ophthalmic Research, University Tubingen, 72076 Tibingen, Germany [23]Rare Diseases, Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France Molecular Genetics Laboratory, Bordeaux University Hospital, Bordeaux, France. [24]National Centre for Biotechnology (CNB-CSIC) and CIBERER-ISCII, Madrid, Spain [25]Departments of Neurology and Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA. [26]Howard Hughes Medical Institute, Chevy Chase, Maryland, USA [27]International Institute of Information Technology, Hyderabad 500 032, India
出处：
DOI： 10.1016/j.ophtha.2022.02.010
ISSN：

摘要：
To characterise the genotypic and phenotypic spectrum of foveal hypoplasia (FH) DESIGN: Multi-centre, observational study SUBJECTS: 907 patients with a confirmed molecular diagnosis of albinism, PAX6, SLC38A8, FRMD7, AHR or achromatopsia (ACHM) from twelve centres in nine 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 optical coherence tomography (OCT) scans were identified from twelve centres or from the literature, between January 2011 and March 2021. A genetic diagnosis was confirmed by sequence analysis. Grading of FH was derived from OCTs.Grade of FH, presence or absence of photoreceptor specialisation (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 ACHM cases. Atypical FH in ACHM had significantly worse VA compared to typical FH (p<0.0001). There was a significant difference in the spectrum of FH grades based on the molecular diagnosis (X2=60.4, p<0.0001). All SLC38A8 cases were PRS- (p=0.003), while all FRMD7 cases were PRS+ (p<0.0001). Analysis of albinism sub-types revealed a significant difference in the grade of FH (X2=31.4, p<0.0001) and VA (p=0.0003) between oculocutaneous albinism (OCA) compared to ocular albinism (OA) and Hermansky-Pudlak syndrome (HPS). OA 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 to other diagnoses associated with FH.We characterised the phenotypic and genotypic spectrum of FH. Atypical FH is associated with much worse prognosis compared to all other forms of FH. In typical FH, our data suggests that arrested retinal development occurs earlier in SLC38A8, OA, HPS and AHR variants and much later in FRMD7 variants. The defined time-period of foveal developmental arrest for OCA and PAX6 variants appears to demonstrate more variability. Our findings provide mechanistic insight into disorders associated with FH and also have significant prognostic and diagnostic value.Copyright © 2022. Published by Elsevier Inc.

基金：
This study was supported by the Medical Research Council (MRC), London, UK (grant number: MR/J004 189/1, MRC/N004566/1 and MC_ PC_ 17171), Fight for Sight (grant ref: 5009/5010 and 24NN181), Ulverscroft Foundation, Korea Centers for Disease Control and Prevention (2018-ER6902-02), the National Research Foundation of Korea (NRF) grant funded by the Korea government (MSIT) (No. 2020R1C1C1007965), The Rebecca D. Considine Research Institute, Akron Children's Hospital. FKC is supported by the NH&MRC Fellowship (MRF1142962) and the NH&MRC Project Grant (GNT1188694, GNT1116360). ECE is an HHMI Investigator. RCHJ is supported by the Miocevich Retina Fellowship. BPB is supported by the Intramural Program at the National EyeInstitute, NIH. BD is supported by the NIHR. HJK is supported by a Wellcome Trust Fellowship. MGT is supported by the NIHR (CL-2017-11-003).
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出版当年[2021]版：
大类 | 1 区 医学
小类 | 1 区 眼科学
最新[2023]版：
大类 | 1 区 医学
小类 | 1 区 眼科学
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出版当年[2020]版：
Q1 OPHTHALMOLOGY
最新[2023]版：
Q1 OPHTHALMOLOGY

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第一作者：
第一作者机构： [1]The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK
通讯作者：
推荐引用方式(GB/T 7714)：
Kuht Helen J,Maconachie Gail DE,Han Jinu,et al.Genotypic and Phenotypic Spectrum of Foveal Hypoplasia A Multicenter Study[J].OPHTHALMOLOGY.2022,129(6):708-718.doi:10.1016/j.ophtha.2022.02.010.
APA：
Kuht Helen J,Maconachie Gail DE,Han Jinu,Kessel Line,Van Genderen Maria M...&Foveal Development Investigators Group.(2022).Genotypic and Phenotypic Spectrum of Foveal Hypoplasia A Multicenter Study.OPHTHALMOLOGY,129,(6)
MLA：
Kuht Helen J,et al."Genotypic and Phenotypic Spectrum of Foveal Hypoplasia A Multicenter Study".OPHTHALMOLOGY 129..6(2022):708-718

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