Search Our Scientific Publications & Authors

Mol Vis 2020 16;26:299-310. Epub 2020 Apr 16.

Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University Jerusalem, Jerusalem, Israel.

Purpose: North Carolina macular dystrophy (NCMD) is an autosomal dominant maculopathy that is considered a non-progressive developmental disorder with variable expressivity. Our study aimed to clinically and genetically characterize macular dystrophy in a family (MOL1154) consisting of six affected subjects with a highly variable maculopathy phenotype in which no correlation between age and severity exists.

Methods: Clinical characterization included visual acuity testing and electroretinography. Read More

Int Ophthalmol 2020 May 29. Epub 2020 May 29.

School of Biology, University College of Science, University of Tehran, Enghelab Ave, Tehran, 1417614411, Iran.

Purpose: To identify CHST6 mutations in Iranians macular corneal dystrophy (MCD) patients and also to assess distribution of amino acids in the encoded protein that are affected by CHST6 mutations reported hitherto in various populations in order to predict gene regions that may be appropriate targets for gene editing approaches including the CRISPR/Cas system. The analysis will also reveal biologically and functionally important regions of the protein.

Methods: Mutation screening of CHST6 by sequencing was performed on 21 Iranian MCD-affected probands. Read More

Eur J Hum Genet 2020 May 28. Epub 2020 May 28.

Faculty of Medicine, Memorial University, St. John's, NL, A1B 3V6, Canada.

Stargardt disease (STGD1) is a form of inherited retinal dystrophy attributed to variants affecting function of the large ABCA4 gene and is arguably the most complex monogenic disease. Therapeutic trials in patients depend on identifying causal ABCA4 variants in trans, which is complicated by extreme allelic and clinical heterogeneity. We report the genetic architecture of STGD1 in the young genetically isolated population of Newfoundland, Canada. Read More

Trends Neurosci 2020 Jun 17;43(6):433-449. Epub 2020 Apr 17.

Department of Ophthalmology, Duke University, Durham, NC 27710, USA; Department of Immunology, Duke University,Durham, NC 27710, USA. Electronic address:

Unlike in the healthy mammalian retina, macrophages in retinal degenerative states are not solely comprised of microglia but may include monocyte-derived recruits. Recent studies have applied transgenics, lineage-tracing, and transcriptomics to help decipher the distinct roles of these two cell types in the diseasesettings of inherited retinal degenerations and age-related macular degeneration.Literature discussed here focuses on the ectopic presence of both macrophage types in the extracellular site surrounding the outer aspect ofphotoreceptor cells (i. Read More

Ophthalmologe 2020 May 26. Epub 2020 May 26.

Augenklinik mit Poliklinik, Universitätsklinik Erlangen, Erlangen, Deutschland.

Background: Inherited retinal diseases with cone dysfunction can be accompanied by severe visual loss and a marked loss of color vision despite relatively normal fundus appearance. Autosomal dominant occult macular dystrophy (RP1L1 gene) and X‑chromosomal retinitis pigmentosa (RPGR gene, including heterozygous female carriers) are important examples. New examination techniques enable quantification of the extent of color vision disturbances. Read More

Ophthalmol Retina 2020 May 21. Epub 2020 May 21.

Department of Ophthalmology. Electronic address:

Purpose: To evaluate whether pentosan polysulfate maculopathy manifests distinctive characteristics that permit differentiation from hereditary maculopathies with multimodal fundus imaging.

Design: Retrospective Review SUBJECTS: Emory Eye Center databases were queried for the following International Classification of Diseases (ICD) codes between May 20, 2014 through October 22, 2019: 362.70 (unspecified hereditary retinal dystrophy), 362. Read More

Am J Ophthalmol 2020 May 20. Epub 2020 May 20.

Jonas Children's Vision Care, Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA; Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, NY, USA. Electronic address:

Purpose: To characterize the progression of optical gaps and expand the known etiologies of this phenotype.

Design: Retrospective cohort study.

Methods: Thirty-six patients were selected based on the identification of an optical gap on spectral-domain optical coherence tomography (SD-OCT) from a large cohort of patients (n=746) with confirmed diagnoses of inherited retinal dystrophy. Read More

Graefes Arch Clin Exp Ophthalmol 2020 May 22. Epub 2020 May 22.

Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.

Purpose: To evaluate the retinal features of elderly patients affected by pseudoxanthoma elasticum (PXE).

Materials And Methods: This is a retrospective case series of 62 eyes of 31 elderly PXE patients (age > 50 years). Clinical data, ultra-widefield fundus imaging (color, red-free (RF), infra-red imaging (IR), fundus autofluorescence (FAF)), and OCT examinations were collected. Read More

Mol Genet Genomic Med 2020 May 22:e1308. Epub 2020 May 22.

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

Background: Biallelic CLN3 gene variants have been found in either juvenile-onset neuronal ceroid lipofuscinosis (JNCL) or isolated retinal dystrophy. It has been reported that most JNCL patients carry a common 1.02-kb deletion variant homozygously. Read More

Invest Ophthalmol Vis Sci 2020 May;61(5):28

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Purpose: Bestrophinopathies are a group of untreatable inherited retinal dystrophies caused by mutations in the retinal pigment epithelium (RPE) Cl- channel bestrophin 1. We tested whether sodium phenylbutyrate (4PBA) could rescue the function of mutant bestrophin 1 associated with autosomal dominant and recessive disease. We then sought analogues of 4PBA with increased potency and determined the mode of action for 4PBA and a lead compound 2-naphthoxyacetic acid (2-NOAA). Read More

Ann Endocrinol (Paris) 2020 Apr 28. Epub 2020 Apr 28.

Service d'endocrinologie, diabétologie et médecine de la reproduction, hôpital de l'Archet 2, université Côte d'Azur, CHU de Nice, Nice, France; Institut national de la santé et de la recherche médicale (Inserm), UMR U1065/UNS, Centre méditerranéen de médecine moléculaire (C3M), équipe 5 « Cellular Basis and Signaling of Tumor Metabolism », Université Côte d'Azur, CHU de Nice, Nice, France. Electronic address:

Objective: While the most frequent mutation responsible for mitochondrial diabetes is the point mutation m.3243 A>G of mitochondrial DNA (mtDNA), few data are available about the role of rare mtDNA mutations in the pathophysiology of diabetes. The main objective of our study was to describe the phenotypic characteristics of patients suffering from diabetes linked to rare mtDNA mutations. Read More

Surv Ophthalmol 2020 Apr 30. Epub 2020 Apr 30.

Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada; Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Alberta, Canada. Electronic address:

Retinitis Pigmentosa 1-Like 1 (RP1L1) is a component of the photoreceptor cilium. Pathogenic variants in RP1L1 lead to photoreceptor disease, suggesting an important role for RP1L1 in photoreceptor biology, though its exact function is unknown. To date, RP1L1 variants have been associated with occult macular dystrophy (OMD, a cone degeneration) and retinitis pigmentosa (RP, a rod disease). Read More

Curr Drug Targets 2020 04 27. Epub 2020 Apr 27.

TSRetina, Trieste, Italy

The therapeutic approach based on anti-vascular endothelial growth factor (anti-VEGF) molecules can be used to treat two important complications of retinal dystrophies: choroidal neovascularization and macular edema. The macular involvement in retinal dystrophies can lead to further visual deterioration in patients in young age and already affected by functional limitations. The chapter reports the effect of anti-VEGF treatment in several subforms of retinal dystrophies, critically discussing advantages and limitations. Read More

J Nepal Health Res Counc 2020 Apr 20;18(1):88-92. Epub 2020 Apr 20.

Vitreoretina Department, Tilganga Institute of Ophthalmology, Kathmandu, Nepal.

Background: Inherited macular dystrophies constitute a group of diseases characterized by bilateral central visual loss with symmetrical macular abnormalities usually presenting in the first two decades of life. The aim of this study were to find out the demographic characteristics and disease pattern of inherited retinal dystrophies in subjects attending retina outpatient department in a tertiary care center.

Methods: An observational study among twenty-six participants diagnosed as macular dystrophy visiting a tertiary care centre in Nepal, during January 2018 to June 2018 were included in the study. Read More

Am J Ophthalmol Case Rep 2020 Jun 9;18:100699. Epub 2020 Apr 9.

William Beaumont Hospital, 3555 W. 13 Mile Road, Suite LL-20, Royal Oak, MI, 48073, USA.

Purpose: To describe novel and previously unreported genetic mutations in the CRB1 gene in a patient with retinal dystrophy. To increase the genotype-phenotype understanding of CRB1-related retinal degenerative diseases and describe patients' response to therapy.

Observations: Patient was evaluated for progressive loss of central and peripheral vision. Read More

Eur J Ophthalmol 2020 Apr 22:1120672120920536. Epub 2020 Apr 22.

UOL of Medical Genetics, Arcispedale Sant'Anna University Hospital and University of Ferrara, Ferrara, Italy.

Eur J Ophthalmol 2020 Apr 20:1120672120916722. Epub 2020 Apr 20.

Department of Clinical Sciences and Community Health, Eye Clinic San Giuseppe Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Multimedica, University of Milan, Milan, Italy.

Purpose: To describe the unusual presentation, diagnosis, and clinical course of an early-onset X-linked infantile retinoschisis.

Case Report: A 6-month-old infant presented with strabismus and poor fixation. After the detection of bilateral intraretinal hemorrhage and diffuse dystrophic retinal pattern at indirect ophthalmoscopy, the patient received a complete evaluation under anesthesia. Read More

Am J Ophthalmol 2020 Apr 9. Epub 2020 Apr 9.

Department of Ophthalmology & Visual Science, Eye and ENT Hospital, Shanghai Medical College, Fudan University, Shanghai, China; Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai, China; NHC Key Laboratory of Myopia, Fudan University, Chinese Academy of Medical Sciences, Shanghai, China. Electronic address:

Purpose: To provide the clinical and genetic characteristics of a large cohort of Chinese patients with vitelliform macular dystrophies.

Design: Cross-sectional study.

Methods: One hundred and thirty-four unrelated Chinese patients diagnosed with Best vitelliform macular dystrophy (BVMD), autosomal recessive bestrophinopathy (ARB) or adult vitelliform macular dystrophy (AVMD) were enrolled. Read More

Prog Retin Eye Res 2020 Apr 9:100861. Epub 2020 Apr 9.

Department of Ophthalmology, Columbia University, New York, NY, 10032, USA; Department of Pathology & Cell Biology, Columbia University, New York, NY, 10032, USA. Electronic address:

The ABCA4 protein (then called a "rim protein") was first identified in 1978 in the rims and incisures of rod photoreceptors. The corresponding gene, ABCA4, was cloned in 1997, and variants were identified as the cause of autosomal recessive Stargardt disease (STGD1). Over the next two decades, variation in ABCA4 has been attributed to phenotypes other than the classically defined STGD1 or fundus flavimaculatus, ranging from early onset and fast progressing cone-rod dystrophy and retinitis pigmentosa-like phenotypes to very late onset cases of mostly mild disease sometimes resembling, and confused with, age-related macular degeneration. Read More

J Neurosci 2020 May 7;40(20):4059-4072. Epub 2020 Apr 7.

Department of Biochemistry, Ophthalmology and Visual Sciences, West Virginia University, Morgantown, West Virginia 26506

Photoreceptor neurons are surrounded by an extracellular matrix, called the interphotoreceptor matrix (IPM). Activities crucial to vision occur within the IPM, including trafficking of nutrients and metabolites, retinal attachment, and interactions needed for normal outer segment phagocytosis. The IPM includes the following two unique proteoglycans: IPM proteoglycan 1 (IMPG1) and IMPG2. Read More

Retina 2020 Apr 3. Epub 2020 Apr 3.

Department of Ophthalmology, University of Paris Est, Creteil, France.

Purpose: To report intraretinal hyperreflective lines related to various macular conditions.

Methods: All cases were imaged with color photographs, autofluorescence images, and spectral-domain optical coherence tomography, some with fluorescein and/or indocyanine green angiography. Demographic data, imaging, course and outcome were retrospectively analyzed. Read More

Cells 2020 Mar 21;9(3). Epub 2020 Mar 21.

Department of Optometry and Vision Science, Vision Science Research Center, University of Alabama at Birmingham, Birmingham, AL 35294, USA.

Patients with certain defects in the dehydrodolichyl diphosphate synthase (DHDDS) gene (RP59; OMIM #613861) exhibit classic symptoms of retinitis pigmentosa, as well as macular changes, suggestive of retinal pigment epithelium (RPE) involvement. The DHDDS enzyme is ubiquitously required for several pathways of protein glycosylation. We wish to understand the basis for selective ocular pathology associated with certain DHDDS mutations and the contribution of specific ocular cell types to the pathology of mutant -mediated retinal degeneration. Read More

Hum Mol Genet 2020 Apr 2. Epub 2020 Apr 2.

The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.

Variants in interphotoreceptor matrix proteoglycans (IMPG2) have been reported in retinitis pigmentosa (RP) and vitelliform macular dystrophy (VMD) patients. However, the underlying molecular mechanisms remain elusive due to a lack of suitable disease models. We developed two independent Impg2 knockout (KO) mouse models using the CRISPR/Cas9 technique to assess the in vivo functions of Impg2 in the retina. Read More

JAMA Ophthalmol 2020 Apr 2. Epub 2020 Apr 2.

Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.

Importance: Detailed phenotypic information on the spectrum of fundus abnormalities and clinical variability of all phenotypes associated with sequence variations in BEST1 is limited.

Objective: To report a detailed phenotypic and genetic analysis of a patient cohort with sequence variations in BEST1.

Design, Setting, And Participants: This retrospective case series took place at the Oxford Eye Hospital in Oxford, UK. Read More

J Cell Mol Med 2020 May 25;24(9):5057-5069. Epub 2020 Mar 25.

INSERM U1051, Institut des Neurosciences de Montpellier, Montpellier, France.

All-trans-retinal (atRAL) is a highly reactive carbonyl specie, known for its reactivity on cellular phosphatidylethanolamine in photoreceptor. It is generated by photoisomerization of 11-cis-retinal chromophore linked to opsin by the Schiff's base reaction. In ABCA4-associated autosomal recessive Stargardt macular dystrophy, atRAL results in carbonyl and oxidative stress, which leads to bisretinoid A2E, accumulation in the retinal pigment epithelium (RPE). Read More

Ophthalmic Genet 2020 Apr 24;41(2):183-188. Epub 2020 Mar 24.

Departamento de Ciencias Clínicas de la División de Ciencias de la Salud, Universidad de Monterrey, San Pedro Garza García, México.

: Vitelliform Macular Dystrophy is an inherited autosomal dominant disease with variable expressivity, caused by a mutation in the gene. We report a family with variable expressivity and incomplete penetrance in its members.: A Mexican family was studied. Read More

Am J Ophthalmol 2020 Mar 20. Epub 2020 Mar 20.

Ophthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Purpose: To measure and compare corneal biomechanics in patients with macular corneal dystrophy (MCD), those who underwent penetrating keratoplasty (PK) for MCD, and normal subjects.

Design: Cross-sectional study.

Methods: This study enrolled 24 eyes with MCD, 25 PK eyes with preoperative diagnosis of MCD, and 28 normal eyes. Read More

J Hum Genet 2020 Mar 16. Epub 2020 Mar 16.

Department of Pediatrics, Peking University First Hospital, Peking, 100034, China.

We analyzed our two new cases of infantile-onset epilepsy with developmental delay with de novo variant in TUBB2A and review the related literatures. Our two probands were both girls with infantile-onset epilepsy and global developmental delay. Case 1 had a novel de novo heterozygous missense variant: c. Read More

Cornea 2020 Mar 13. Epub 2020 Mar 13.

Department of Ophthalmology, University of Cologne, Cologne, Germany.

Purpose: To explore the impact of iris color on the outcome of Descemet membrane endothelial keratoplasty (DMEK).

Methods: Consecutive cases of Fuchs endothelial dystrophy after DMEK were retrospectively analyzed from the prospective Cologne DMEK database between 2011 and 2017 at the University of Cologne, Germany. Iris pictures were graded by color into blue, green, or brown and compared regarding outcome parameters including best-corrected visual acuity (converted to logarithm of the minimal angle of resolution), central corneal thickness, endothelial cell density (ECD), each at preoperative (baseline) and postoperative 12 months, rebubbling rates, cystoid macular edema (CME), and immune rejections after surgery. Read More

J Pediatr Ophthalmol Strabismus 2020 Mar 12;57:e19-e24. Epub 2020 Mar 12.

Cystic maculopathy has been associated with genetic disorders such as retinitis pigmentosa, X-linked retinoschisis, cone dystrophy, and foveal retinoschisis. Familial foveal retinoschisis was recently described as a rare disease caused by CRB1 variants. The authors report the phenotype-genotype pattern of a pair of dizygotic twins with early-onset cystic maculopathy due to CRB1 pathogenic variants. Read More

Invest Ophthalmol Vis Sci 2020 Mar;61(3):10

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Purpose: To investigate the clinical and genetic characteristics of occult macular dystrophy (OMD) based on a Chinese patient cohort.

Methods: Fifteen Chinese OMD patients from nine unrelated families underwent genetic testing, and all of them harbored a pathogenic RP1L1 variant. Comprehensive ophthalmic examinations were performed in nine probands, including spectral-domain optical coherence tomography (SD-OCT), near-infrared reflectance (NIR), fundus autofluorescence (AF), and multifocal electroretinography. Read More

Arq Bras Oftalmol 2020 Mar-Apr;83(2):160-167

Department of Ophthalmology, Otorhinolaryngology and Head and Neck Surgery, Faculty of Medicine of Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brazil.

Degenerative retinal diseases such as retinitis pigmentosa, Stargardt's macular dystrophy, and age-related macular degeneration are characterized by irreversible loss of vision due to direct or indirect photoreceptor damage. No effective treatments exist, but stem cell studies have shown promising results. Our aim with this review was to describe the types of stem cells that are under study, their effects, and the main clinical trials involving them. Read More

Am J Ophthalmol Case Rep 2020 Jun 26;18:100625. Epub 2020 Feb 26.

Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, University of Auckland, Building 504, Level 4, 85 Park Road, Grafton, 1142, Auckland, New Zealand.

Purpose: To describe the phenotypic and genotypic characteristics of two families with cone dystrophy with supernormal rod responses (CDSRR) presenting with a pseudodominant inheritance of disease.

Observations: Three affected members from each family were ascertained. Family 1 of Egyptian ancestry showed consanguinity, and Family 2 was of Northern Iraqi ancestry. Read More

Cells 2020 Mar 4;9(3). Epub 2020 Mar 4.

Cole Eye Institute & Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.

Sorsby's fundus dystrophy (SFD) is an inherited blinding disorder caused by mutations in the tissue inhibitor of metalloproteinase-3 () gene. The SFD pathology of macular degeneration with subretinal deposits and choroidal neovascularization (CNV) closely resembles that of the more common age-related macular degeneration (AMD). The objective of this study was to gain further insight into the molecular mechanism(s) by which mutant TIMP3 induces CNV. Read More

Am J Ophthalmol Case Rep 2020 Jun 24;18:100628. Epub 2020 Feb 24.

Department of Ophthalmology and Visual Science, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

Purpose: Acquired vitelliform lesions (AVLs) are associated with age-related macular degeneration and other variable macular disorders. AVLs often lead to outer retinal atrophy, sometimes accompanying a macular hole and choroidal neovascularization. The purpose of this study was to report a rare case with bilateral AVLs, in which one eye had accompanied a macular hole and the second eye a serous pigment epithelial detachment (sPED). Read More

Int Ophthalmol 2020 Jun 4;40(6):1501-1508. Epub 2020 Mar 4.

Ophthalmology and Vision Sciences, Division of Clinical Neurosciences, B Floor, EENT Centre, Queen's Medical Centre, University of Nottingham, Nottingham, UK.

Purpose: Adult vitelliform lesions (AVL) are associated with age related macular degeneration (AMD) and subretinal drusenoid deposits (SRDD). We evaluated the natural course of AVL, assessing the influence of SRDD on disease progression, visual function and incidence of macular atrophy (MA) and choroidal neovascular membranes (CNVM).

Methods: A retrospective cohort study was conducted between January 2011 and March 2016. Read More

Photodiagnosis Photodyn Ther 2020 Feb 29:101702. Epub 2020 Feb 29.

Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples Federico II, Naples, Italy.

Background: To evaluate retinal and choriocapillaris (CC) vessel density in macular region in patients affected by adult-onset foveomacular vitelliform dystrophy (AOFVD) using optical coherence tomography angiography (OCTA) METHODS: A total forty-four right eyes of 44 AOFVD patients (20 females, 24 males, mean age 69.17 ± 11.57 years) divided in 3 stages (vitelliform, pseudohypopyon and vitelliruptive) and 60 normal right eyes of 60 controls (20 females, 40 males, mean age 66. Read More

Clin Exp Ophthalmol 2020 Feb 29. Epub 2020 Feb 29.

Department of Advanced Ophthalmic Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.

Importance: A framework for understanding the phenotypic features of CRX retinopathy was established.

Background: To perform a phenotype-genotype correlation analysis in two groups of patients with heterozygous mutations in distinct locations of the CRX gene, encoding the cone-rod homeobox.

Design: Multicentre retrospective study. Read More

Int J Mol Sci 2020 Feb 26;21(5). Epub 2020 Feb 26.

Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauß-Allee 11, 93053 Regensburg, Germany.

Best vitelliform macular dystrophy (BD), autosomal dominant vitreoretinochoroidopathy (ADVIRC), and the autosomal recessive bestrophinopathy (ARB), together known as the bestrophinopathies, are caused by mutations in the bestrophin-1 () gene affecting anion transport through the plasma membrane of the retinal pigment epithelium (RPE). To date, while no treatment exists a better understanding of BEST1-related pathogenesis may help to define therapeutic targets. Here, we systematically characterize functional consequences of mutant BEST1 in thirteen RPE patient cell lines differentiated from human induced pluripotent stem cells (hiPSCs). Read More

Klin Monbl Augenheilkd 2020 Apr 24;237(4):484-486. Epub 2020 Feb 24.

Ophthalmology, RétinElysée, Lausanne, Switzerland.

Int J Mol Sci 2020 Feb 16;21(4). Epub 2020 Feb 16.

Department of Ophthalmology, Kindai University Faculty of Medicine, Osaka 589-8511, Japan.

-associated retinopathy is a rare inherited retinal dystrophy, and its outcome has not been determined. A single retinal involvement by a mutation of the gene is unexplained. We found three unrelated patients with a disease-causing variant in a biallelic state from 1555 Japanese individuals of 1314 families with inherited retinal dystrophy. Read More

Indian J Ophthalmol 2020 03;68(3):533-535

Department of Uvea, Aravind Eye Hospital, Madurai, Tamil Nadu, India.

To report a rare case of Muller cell sheen dystrophy and to describe its clinical and diagnostic aspects. A 42-year-old woman presented with unilateral defective vision. Fundus evaluation revealed bilateral glistening retinal reflexes throughout the posterior pole with a wrinkled appearance in the right. Read More

Cold Spring Harb Mol Case Stud 2020 Feb 3;6(1). Epub 2020 Feb 3.

Edward S. Harkness Eye Institute, Columbia University Medical Center, New York, New York 10032, USA.

Mutations in the gene (OMIM: 180069) are recessively inherited and known to cause Leber congenital amaurosis. Recently, the mutation D477G in has been identified as a cause of autosomal dominant retinitis pigmentosa (RP). Variable expressivity of this disease has been reported, as carrier individuals can present with mild, nonpenetrant, or, most commonly, a severe chorioretinal phenotype that resembles choroideremia. Read More

Cold Spring Harb Mol Case Stud 2020 Feb 3;6(1). Epub 2020 Feb 3.

Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts 02114, USA.

Retinol dehydrogenase 12, RDH12, plays a pivotal role in the visual cycle to ensure the maintenance of normal vision. Alterations in activity of this protein result in photoreceptor death and decreased vision beginning at an early age and progressing to substantial vision loss later in life. Here we describe 11 patients with retinal degeneration that underwent next-generation sequencing (NGS) with a targeted panel of all currently known inherited retinal degeneration (IRD) genes and whole-exome sequencing to identify the genetic causality of their retinal disease. Read More

Int J Mol Sci 2020 Jan 28;21(3). Epub 2020 Jan 28.

Department of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.

This study describes the clinical, genetic, and histopathological features in patients with -associated retinal dystrophies. Nine male patients from eight unrelated families underwent a comprehensive ophthalmic examination. Additionally, the histopathology of the right eye from a patient with an end-stage cone-rod-dystrophy (CRD)/sector retinitis pigmentosa (RP) phenotype was examined. Read More

J Nippon Med Sch 2020 May 31;87(2):92-99. Epub 2020 Jan 31.

Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital.

Background: The GUCY2D (guanylate cyclase 2D) gene encodes a photoreceptor guanylate cyclase (GC-E), that is predominantly expressed in the cone outer segments. Mutations in the GUCY2D lead to severe retinal disorders such as autosomal dominant cone-rod dystrophy (adCRD) and autosomal recessive Leber congenital amaurosis type 1. The purpose of this study was to identify the phenotype of a Japanese patient with a probably pathogenic GUCY2D variant. Read More

Neuromuscul Disord 2020 02 30;30(2):144-150. Epub 2019 Nov 30.

Institute of Neurology, Università Cattolica del Sacro Cuore, Largo F. Vito 1, Rome, Italy; Area Neuroscienze, Fondazione Policlinico A. Gemelli IRCSS, Largo A. Gemelli 8, Rome, Italy. Electronic address:

The purpose of the study is to evaluate retinal involvement in a cohort of patients affected by Myotonic Dystrophy type 1 (DM1). Both eyes of 30 patients and one eye of a 31st patient with genetically proven diagnosis of DM1 and both eyes of 20 healthy age- and gender-matched subjects were enrolled. All patients underwent complete ophthalmologic examination including best-corrected visual acuity, intraocular pressure measurement, fundoscopy, fundus autofluorescence, infrared imaging and spectral-domain optical coherence tomography with central macular thickness measurement. Read More

Doc Ophthalmol 2020 Jan 29. Epub 2020 Jan 29.

Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan.

Purpose: To report the clinical and genetic features of a 9-year-old female Japanese patient with Bardet-Biedl syndrome (BBS).

Methods: Genetic analysis using whole-exome sequencing (WES) was performed for the patient and her parents to identify disease-causing variants. Reverse transcriptase-polymerase chain reaction (RT-PCR) was performed to investigate the impact of splice-site variants. Read More

Am J Ophthalmol 2020 May 16;213:69-75. Epub 2020 Jan 16.

Department of Ophthalmology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany. Electronic address:

Purpose: Impaired subjective morning visual acuity with improvement of symptoms during the day is pathognomonic for corneal endothelial dysfunction in advanced Fuchs endothelial corneal dystrophy (FECD). This study aimed to analyze the daily fluctuations of corneal thickness, refraction, and (glare) visual acuity in advanced FECD.

Design: Prospective cohort study. Read More