Search Our Scientific Publications & Authors

Biosci Rep 2021 May 14. Epub 2021 May 14.

Department of Ophthalmology, the 74th Army Group Hospital, Guangzhou, China.

Background: Stargardt disease (STGD) is the most common form of juvenile macular dystrophy associated with progressive central vision loss, and is agenetically and clinically heterogeneous disease. Molecular diagnosis is of great significance in aiding the clinical diagnosis, helping to determine the phenotypic severity and visual prognosis. In this study, we determined the clinical and genetic features of seven childhood-onset and three adult-onset Chinese STGD families. Read More

Ann Transl Med 2021 Apr;9(8):622

Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.

Background: Macular corneal dystrophy (MCD), a rare autosomal recessive disorder, is caused by pathogenic mutations in the carbohydrate sulfotransferase 6 gene () and is characterized by bilateral progressive stromal clouding and vision loss. Corneal transplantation is often necessary. This study aimed to identify disease-causing mutations in a Han-Chinese MCD patient. Read More

Am J Ophthalmol Case Rep 2021 Jun 16;22:101090. Epub 2021 Apr 16.

Icahn School of Medicine at Mount Sinai and New York Eye and Ear Infirmary of Mount Sinai, Department of Ophthalmology, New York, NY, USA.

Purpose: Fundus albipunctatus is an inherited cause of congenital stationary night blindness. The objective of this report is to describe structural changes occurring in a macular phenotype of a novel RDH5 mutation producing fundus albipunctatus using high-resolution imaging. A 62-year-old male with longstanding night blindness underwent imaging and genetic evaluation. Read More

Graefes Arch Clin Exp Ophthalmol 2021 May 11. Epub 2021 May 11.

Department of Ophthalmology, RWTH Aachen University, Pauwelsstrasse 30, 52074, Aachen, Germany.

Purpose: To determine retinal thickness (RT) changes and the incidence of macular edema after uncomplicated Descemet membrane endothelial keratoplasty (DMEK-ME) in patients without ME risk factors.

Methods: In this retrospective study, 107 pseudophakic eyes of 74 patients with Fuchs endothelial dystrophy (FED) (79.4%) or bullous keratopathy (BK) (20. Read More

Ophthalmic Genet 2021 May 11:1-5. Epub 2021 May 11.

Department of Ophthalmology, Marmara University School of Medicine, Istanbul, Turkey.

: Cohen Syndrome (CS) is an autosomal recessive multisystemic disorder characterized by various ophthalmologic findings, including retinal dystrophy and associated cystoid macular edema (CME), in which there was no known effective treatment approach. We describe a CS patient with a homozygous c.62 T > G, p. Read More

Gene 2021 May 5:145698. Epub 2021 May 5.

Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen 518040, China; School of Optometry, Shenzhen University, Shenzhen 518040, China. Electronic address:

Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy which is caused by the mutations of CYP4V2, usually progressing to legal blindness by the 5th or 6th decade of life. Here we identified CYP4V2 compound heterozygous mutations in two female siblings with BCD without subjective symptoms. After 381 pathogenic genes related to retinal diseases were screened by targeted sequence capture array techniques and confirmed by Sanger sequencing, two compound heterozygous mutations in CYP4V2 were found. Read More

Exp Eye Res 2021 May 5:108603. Epub 2021 May 5.

Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, Oxford University, West Wing, John Radcliffe Hospital, Oxford, OX3 9DU, UK; Oxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Headley Way, Oxford, OX3 9DU, UK. Electronic address:

Purpose: To validate the Cdhr1 mouse as a model for human CDHR1-associated retinal degeneration, which may present as cone-rod dystrophy or geographic atrophy.

Methods: Deep phenotyping of Cdhr1(n = 56) and C57BL6J wildtype control mice (n = 45) was undertaken using in vivo multimodal retinal imaging and dark- and light-adapted electroretinography (ERG) over 15 months to evaluate rod- and cone-photoreceptor responses and retinal morphology.

Results: Cdhr1 retinas exhibited outer retinal thinning on optical coherence tomography (OCT) at 1-month versus C57BL6J (mean 14. Read More

Ophthalmic Genet 2021 May 6:1-6. Epub 2021 May 6.

Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium.

: Heimler syndrome (OMIM number #234580 and #616617) is a rare condition comprising sensorineural hearing loss (SNHL), nail abnormalities and amelogenesis imperfecta. In addition, patients with this syndrome can have retinal dystrophies. Heimler syndrome is caused by bi-allelic pathogenic variants in the or gene. Read More

Ophthalmic Genet 2021 May 5:1-12. Epub 2021 May 5.

Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.

: Late-onset retinal degeneration (L-ORD) is a rare autosomal dominant retinal dystrophy related to gene variants.: Twenty-six patients (21-81 years) with L-ORD due to c.562C>A p. Read More

Ophthalmic Genet 2021 May 3:1-9. Epub 2021 May 3.

Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, Australia.

This study examined the frequency of inherited retinal diseases (IRDs) as the reason for blindness registrations over the last two decades and the demographic and clinical phenotypes of inherited retinal disease (IRD)-related registrations. Retrospective, observational study of individuals registered with a state-wide blind and vision-impaired registry. Low-vision or blindness-only (≤20/200 or ≤20°) certificates issued to children (0-15 years), working-age (16-64 years) and older-age (65 and older) adults were assessed. Read More

Ann Eye Sci 2020 Sep 15;5. Epub 2020 Sep 15.

UCL Institute of Ophthalmology, University College London, London, UK.

Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population. The advances in ocular genetics, retinal imaging and molecular biology, have conspired to create the ideal environment for establishing treatments for IRD, with the first approved gene therapy and the commencement of multiple therapy trials. The scope of this review is to familiarize clinicians and scientists with the current landscape of retinal imaging in IRD. Read More

Am J Hum Genet 2021 May 27;108(5):903-918. Epub 2021 Apr 27.

Jonas Children's Vision Care and the Bernard & Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, Columbia Stem Cell Initiative, Columbia University, New York, NY 10032, USA; Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, NY 10032, USA; Department of Pathology & Cell Biology, Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA. Electronic address:

Macular degeneration (MD) is characterized by the progressive deterioration of the macula and represents one of the most prevalent causes of blindness worldwide. Abnormal intracellular accumulation of lipid droplets and pericellular deposits of lipid-rich material in the retinal pigment epithelium (RPE) called drusen are clinical hallmarks of different forms of MD including Doyne honeycomb retinal dystrophy (DHRD) and age-related MD (AMD). However, the appropriate molecular therapeutic target underlying these disorder phenotypes remains elusive. Read More

Mol Vis 2021 18;27:95-106. Epub 2021 Mar 18.

Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.

Purpose: Despite the extensive use of next-generation sequencing (NGS) technology to identify disease-causing genomic variations, a major gap in our understanding of Mendelian diseases is the unidentified molecular lesion in a significant portion of patients. For inherited retinal degenerations (IRDs), although currently close to 300 disease-associated genes have been identified, the mutations in approximately one-third of patients remain unknown. With mounting evidence that noncoding mutations might contribute significantly to disease burden, we aimed to systematically investigate the contributions of noncoding regions in the genome to IRDs. Read More

J Fr Ophtalmol 2021 Apr 20. Epub 2021 Apr 20.

Department of Ophthalmology, Hospital Universitario Ramón y Cajal, IRYCIS, M-607, km. 9, 100, 28034 Madrid, Spain.

Br J Ophthalmol 2021 Apr 20. Epub 2021 Apr 20.

Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan

Background/aims: To investigate the utility of a data-driven deep learning approach in patients with inherited retinal disorder (IRD) and to predict the causative genes based on fundus photography and fundus autofluorescence (FAF) imaging.

Methods: Clinical and genetic data from 1302 subjects from 729 genetically confirmed families with IRD registered with the Japan Eye Genetics Consortium were reviewed. Three categories of genetic diagnosis were selected, based on the high prevalence of their causative genes: Stargardt disease (), retinitis pigmentosa () and occult macular dystrophy (). Read More

Doc Ophthalmol 2021 Apr 20. Epub 2021 Apr 20.

Newcastle Eye Centre, Royal Victoria Infirmary, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK.

Purpose: To report the long-term structural and functional changes in the posterior segments of an adult with an unusual retinal dystrophy caused by a novel mutation in JAG1.

Methods: A 33-year-old female underwent comprehensive ophthalmic examination, including best corrected visual acuity (BCVA) measurement, dilated fundus imaging (wide-angle fundus colour and short wavelength autofluorescence imaging), macular and peripheral spectral-domain optical coherence tomography (SD-OCT) and electroretinography (ERG) at baseline and 10 years later at the age of 43. The patient also underwent systemic review with detailed cardiac, brain and renal investigations. Read More

Digit J Ophthalmol 2021 Feb 20;26(2):4-6. Epub 2020 Jun 20.

Department of Ophthalmology, Geisinger Medical Center, Danville, Pennsylvania.

We report the case of an 84-year-old man who presented with decreased vision in his left eye. Ocular history included bilateral pseudoexfoliative glaucoma and vitelliform macular dystrophy. He had undergone intraocular lens placement in both eyes 6 years before presenting at our institution. Read More

Retina 2021 Apr 8. Epub 2021 Apr 8.

Southwest Hospital / Southwest Eye Hospital, Army Medical University, Chongqing, China Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, China.

Purpose: To compare changes of chorioretinal blood perfusion between Bietti crystalline dystrophy (BCD) and typical retinitis pigmentosa (RP) and perform a staging and a longitudinal analysis of chorioretinal perfusion in BCD.

Methods: Twenty-eight BCD patients (56 eyes), 28 typical RP patients (56 eyes), and 28 healthy subjects (56 eyes) were enrolled. Macular structural parameters and subfoveal choroidal thickness were measured via optical coherence tomography. Read More

Curr Eye Res 2021 Apr 11:1-7. Epub 2021 Apr 11.

Department of Ophthalmology, Rabin Medical Center, Petah-Tikva, Israel.

: To evaluated Descemet's membrane endothelial keratoplasty (DMEK) outcomes in young and old graft recipients.: Data of 164 surgeries with a median age of 76 years (interquartile range 14 years) undergoing DMEK surgery between 2016 and 2018 was reviewed. Complications, graft survival, and visual acuity gain were compared between subjects in the 25th percentile (young recipients; aged 70 years and less, n = 21) and 75th percentile (old recipients; aged 85 years and over, n = 27) over the 2-year follow-up. Read More

Mol Genet Genomic Med 2021 Apr 9:e1688. Epub 2021 Apr 9.

Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.

Background: Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive inherited disorder caused by biallelic variants in the CDH3 gene encoding P-cadherin. Here, we report two Japanese sibling patients with HJMD.

Methods: Whole-exome sequencing (WES) was performed to identify disease-causing variants. Read More

BMC Ophthalmol 2021 Apr 9;21(1):168. Epub 2021 Apr 9.

Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.

Background: We present 3 members of a family with macular dystrophy, originally diagnosed as Stargardt disease, with a significantly variable age at onset, caused by a heterozygous mutation in CRX.

Case Presentation: A 43-year-old female with bull's eye maculopathy, whose sister was diagnosed with Stargardt disease previously at another centre, was found to have a single ABCA4 variant. Further examination of the family revealed that the asymptomatic father was also affected, indicating a dominant pattern of inheritance. Read More

Ophthalmic Physiol Opt 2021 Apr 9. Epub 2021 Apr 9.

Centre for Applied Vision Research, School of Health Sciences, City, University of London, London, UK.

Purpose: Clinical assessment of rod and cone photoreceptor sensitivity often involves the use of extended dark adaptation times to minimise cone involvement or the use of bright adapting backgrounds to saturate rods. In this study we examine a new rod/cone sensitivity test, which requires minimal dark adaptation. The aim was to establish whether rod/cone sensitivity losses could be measured reliably in patients with retinal diseases that selectively affect rods or cones when compared to age-matched subjects with normal vision. Read More

Eur J Ophthalmol 2021 Apr 7:11206721211008779. Epub 2021 Apr 7.

Doheny Eye Institute, Los Angeles, CA, USA.

We describe a case of Best Vitelliform Macular Dystrophy using the Mirante device by Nidek, a multi-modal confocal scanning laser ophthalmoscopy (SLO) system equipped with Retro Mode Illumination, a relatively new retinal imaging modality. Read More

Genes (Basel) 2021 Mar 29;12(4). Epub 2021 Mar 29.

Eye Hospital, University Medical Centre Ljubljana, Grablovičeva 46, 1000 Ljubljana, Slovenia.

Mutations in are associated with rod-cone or cone/cone-rod dystrophy, the latter associated with mutations at the distal end. We describe the phenotype associated with a novel variant in the terminal codon of the c.3457T>A (Ter1153Lysext*38), which results in a C-terminal extension. Read More

Int J Mol Sci 2021 Mar 24;22(7). Epub 2021 Mar 24.

Department of Biochemistry, University of Otago, Dunedin 9016, New Zealand.

Cancer is one of the leading causes of death worldwide. Conventional therapies, including surgery, radiation, and chemotherapy have achieved increased survival rates for many types of cancer over the past decades. However, cancer recurrence and/or metastasis to distant organs remain major challenges, resulting in a large, unmet clinical need. Read More

Cells 2021 Mar 20;10(3). Epub 2021 Mar 20.

Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa Hospitals & Clinics, Iowa City, IA 52242, USA.

The extracellular matrix (ECM) plays a crucial role in all parts of the eye, from maintaining clarity and hydration of the cornea and vitreous to regulating angiogenesis, intraocular pressure maintenance, and vascular signaling. This review focuses on the interactions of the ECM for homeostasis of normal physiologic functions of the cornea, vitreous, retina, retinal pigment epithelium, Bruch's membrane, and choroid as well as trabecular meshwork, optic nerve, conjunctiva and tenon's layer as it relates to glaucoma. A variety of pathways and key factors related to ECM in the eye are discussed, including but not limited to those related to transforming growth factor-β, vascular endothelial growth factor, basic-fibroblastic growth factor, connective tissue growth factor, matrix metalloproteinases (including MMP-2 and MMP-9, and MMP-14), collagen IV, fibronectin, elastin, canonical signaling, integrins, and endothelial morphogenesis consistent of cellular activation-tubulogenesis and cellular differentiation-stabilization. Read More

Br J Ophthalmol 2021 Mar 30. Epub 2021 Mar 30.

Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK

Background/aim: To provide a comprehensive multimodal retinal imaging characterisation of patients with North Carolina macular dystrophy (NCMD).

Methods: Clinical evaluation and retinal imaging in six families.

Results: Twenty-one subjects showed phenotypic characteristics of NCMD . Read More

Cell Stem Cell 2021 May 29;28(5):846-862.e8. Epub 2021 Mar 29.

Department of Ophthalmology, University of Rochester, Rochester, NY 14620, USA; Department of Biomedical Genetics, University of Rochester, Rochester, NY 14620, USA; Department of Orthopedics and Center for Musculoskeletal Research, University of Rochester, Rochester, NY 14642, USA; Center for Visual Science, University of Rochester, Rochester, NY 14620, USA; UR Stem Cell and Regenerative Medicine Center, Rochester, NY 14620, USA. Electronic address:

The retinal pigment epithelium (RPE)-choriocapillaris (CC) complex in the eye is compromised in age-related macular degeneration (AMD) and related macular dystrophies (MDs), yet in vitro models of RPE-CC complex that enable investigation of AMD/MD pathophysiology are lacking. By incorporating iPSC-derived cells into a hydrogel-based extracellular matrix, we developed a 3D RPE-CC model that recapitulates key features of both healthy and AMD/MD eyes and provides modular control over RPE and CC layers. Using this 3D RPE-CC model, we demonstrated that both RPE- and mesenchyme-secreted factors are necessary for the formation of fenestrated CC-like vasculature. Read More

Case Rep Genet 2020 2;2020:8860863. Epub 2020 Dec 2.

Department of Ophthalmology, Loma Linda University School of Medicine, Loma Linda, CA, USA.

Background: Autosomal dominant retinitis pigmentosa (adRP) is a rare cause of progressive visual impairment in young patients and is frequently a result of RHO gene mutations. p.Thr58Arg rhodopsin mutation leads to misfolding of rhodopsin, subsequent accumulation in the endoplasmic reticulum, and leads to consecutive atrophy of photoreceptor cells through apoptosis. Read More

Stem Cell Res 2021 Mar 18;53:102301. Epub 2021 Mar 18.

Department of Regeneration and Cell Therapy, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Avda. Americo Vespucio, 24, 41092 Seville, Spain. Electronic address:

Retinal dystrophies associated to mutations in the CRB1 gene comprise a wide array of clinical presentations. A blood sample from a patient with a family history of CRB1-retinal dystrophy was used to prepare the iPSC line ESi082-A. The genotype of the donor, affected of a perifoveal-bilateral macular dystrophy includes one frameshift deletion and one hypomorphic allele. Read More