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Ophthalmic Genet 2019 Feb 7:1-5. Epub 2019 Feb 7.

d Division of Clinical Cell Therapy, Center for Translational and Advanced Animal Research , Tohoku University Graduate School of Medicine , Sendai , Japan.

Background: Spinocerebellar ataxia type 1 (SCA1) caused by pathogenic CAG repeat expansion in the ATXN1 is characterized by loss of vision with little fundus abnormalities in some patients. Recently, macular degeneration has been reported to account for the visual symptoms in sporadic cases.

Materials And Methods: Five consecutive patients diagnosed as SCA1 with supporting genetical evidence were newly referred to ophthalmology department from neurology unit. Read More

Int J Retina Vitreous 2019 30;5. Epub 2019 Jan 30.

Benjamin Constant Institute (IBC), Av. Pasteur, 350 - Urca, Rio de Janeiro, Rio de Janeiro 22290-240 Brazil.

Background: To describe the clinical and multimodal imaging findings of a Brazilian family with Best vitelliform macular dystrophy.

Methods: A retrospective chart review of a Brazilian family was conducted and complementary fundus images (color photography, autofluorescence, fluorescein angiography and optical coherence tomography) were analyzed.

Results: Seven patients had typical macular lesions at different stages of Best vitelliform macular dystrophy. Read More

Aging (Albany NY) 2019 Feb;11(3):1019-1029

Department of Ophthalmology and Visual Science, Eye Institute, Eye and ENT Hospital, Shanghai Medical College of Fudan University, NHC Key Laboratory of myopia (Fudan University), Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai, China.

Macular corneal dystrophy (MCD) is an autosomal recessive disease featured by bilateral progressive stromal clouding and loss of vision, consequently necessitating corneal transplantation. Variants in gene have been recognized as the most critical genetic components in MCD. Although many variants have been described until now, the detailed mechanisms underlying MCD are still far from understood. Read More

Hum Mutat 2019 Feb 2. Epub 2019 Feb 2.

UCL Institute of Ophthalmology, University College London, London, United Kingdom.

The autosomal dominant progressive bifocal chorioretinal atrophy (PBCRA) disease locus has been mapped to chromosome 6q14-16.2 that overlaps the North Carolina macular dystrophy (NCMD) locus MCDR1. NCMD is a nonprogressive developmental macular dystrophy, in which variants upstream of PRDM13 have been implicated. Read More

Vet Ophthalmol 2019 Jan 30. Epub 2019 Jan 30.

National Veterinary School of Touluose, Toulouse, France.

Objective: To describe the phenotype of canine macular corneal dystrophy (MCD) including the clinical presentation, multimodal ocular imaging, histopathology, and ultrastructural analysis in ten Labrador Retrievers.

Procedure: Multicentered data collection.

Results: Labrador Retrievers affected by MCD were presented between the age of 4. Read More

Expert Opin Biol Ther 2019 Jan 26:1-8. Epub 2019 Jan 26.

d Retinal Consultants of Arizona, Phoenix, Arizona; USC Roski Eye Institute, Keck School of Medicine , University of Southern California , Los Angeles , CA , USA.

Introduction: Dry age-related macular degeneration (AMD) and Stargardt Macular Dystrophy (STGD1) result in vision loss due to progressive atrophy of the macula and lack of effective treatments. Numerous studies have implicated complement-associated inflammation as a contributor to both diseases. Areas covered: The complement factor D inhibitor, lampalizumab, failed to halt geographic atrophy (GA) progression in phase 3 studies. Read More

J Fr Ophtalmol 2019 Feb 22;42(2):e73-e77. Epub 2019 Jan 22.

Service d'ophtalmologie, hôpital Omar Drissi, CHU Hassan II Fès, 65, Rce Tafilalt, apptartement 6, rue El Jadida hay Amal, Route de Séfrou Fès, 30050, Fès, Maroc; Faculté de médecine et de pharmacie Fès, université Sidi Mohammed Benabdellah, 30050 Fès, Maroc.

Hum Mutat 2019 Jan 22. Epub 2019 Jan 22.

Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.

Sorsby fundus dystrophy (SFD) is a macular degeneration caused by mutations in TIMP3, the majority of which introduce a novel cysteine. However, the exact molecular mechanisms underlying SFD remain unknown. We aimed to provide novel insights into the functional consequences of a distinct N-terminal mutation. Read More

Retina 2019 Jan 16. Epub 2019 Jan 16.

Department of Ophthalmology, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Purpose: To study the etiology, clinical features, management options, and visual prognosis in various types of atypical macular holes (MHs).

Methods: A review of the literature was performed, which focused on the etiopathogenesis of atypical or secondary MHs, their differentiating clinical features, management strategies, and varied clinical outcomes. Idiopathic or age-related, myopic, and traumatic MHs were excluded. Read More

Curr Pharm Des 2019 Jan 15. Epub 2019 Jan 15.

Chronic Diseases Research Unit, Department of Medical Technology, Faculty of Allied Health Sciences, Naresuan University, Naresuan University, 99 Moo 9 Tambon Tha Pho, Muang Phitsanulok 65000. Thailand.

Background: Oxidative stress, an increased free radicals or oxidant productions result in cellular degeneration and neurodegeneration by damage all macromolecules, inducing lipid peroxidation, protein modification, DNA damage and apoptosis or cell death.

Methods: Accumulation of the DNA damage (8HOdG) products and the end products of LPO (including aldehyde, diene, triene conjugates and Schiff's bases) were noted in the research studies. Significant higher in the levels of these products in comparison with the control were observed. Read More

Stem Cell Res 2019 Jan 30;34:101352. Epub 2018 Nov 30.

Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia; Lions Eye Institute, Nedlands, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia; Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia.

We report the generation of the human iPSC line LEIi007-A from a patient with autosomal recessive Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene (c.[5461-10 T > C];[4139C > T]). Reprogramming of patient dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA to establish the clonal iPSC line LEIl007-A. Read More

Cold Spring Harb Mol Case Stud 2019 Jan 10. Epub 2019 Jan 10.

Department of Ophthalmology, College of Physicians and Surgeons, Columbia University;

ROM1 (retinal outer segment membrane protein 1) is a 351-amino acid integral membrane protein on chromosome 11q, with high structural similarity to PRPH2/RDS. Localized at the rims of photoreceptor outer segments (OS), it is required for the maintenance of OS structure. Here, we describe a case with a phenotypic manifestation of a homozygous single base pair deletion, c. Read More

J Med Case Rep 2019 Jan 10;13(1). Epub 2019 Jan 10.

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

Background: Based on phenotypic similarities between age-related macular degeneration and the autosomal disorder Doyne honeycomb retinal dystrophy, we report on a single nanolaser treatment of a patient with genotype Doyne honeycomb retinal dystrophy confirmation and evidence of disease progression over 12 months. The case study is the first report of short-term results of subthreshold nanolaser treatment in a patient with Doyne honeycomb retinal dystrophy.

Case Presentation: A 43-year-old Caucasian man with moderate loss of visual acuity in his left eye (20/40) and normal visual acuity in his right eye (20/20), with clinical Doyne honeycomb retinal dystrophy diagnosis and genetic confirmation of the common heterozygous mutation (EFEMP1) by genetic testing, underwent nanopulse subthreshold laser treatment in his left eye. Read More

Int J Trichology 2018 Sep-Oct;10(5):234-236

Department of Dermatovenereology, Hospital de Braga, Braga, Portugal.

Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disease, characterized by hypotrichosis and progressive macular degeneration, leading to blindness in the first three decades of life. It is associated with mutations in the cadherin 3 gene, resulting in the abnormal expression of P-cadherin. We report a case of a 4-year-old female patient diagnosed with this genodermatosis. Read More

Acta Ophthalmol 2018 Dec 31. Epub 2018 Dec 31.

Moorfields Eye Hospital, London, UK.

Purpose: To review the clinical characteristics and address the aetiology in a group of patients presenting with unilateral retinal pigmentary changes, best described as unilateral pigmentary retinopathy (UPR).

Methods: The cohort of 42 patients was identified retrospectively from the Moorfields Eye Hospital electrophysiology database. All had undergone full-field [electroretinography (ERG)] and pattern electroretinography (PERG), with 13 additionally having multifocal ERG (mfERG). Read More

Pharm Res 2018 Dec 27;36(2):29. Epub 2018 Dec 27.

Pharmaceutical Research and Development, Allergan plc, 2525 Dupont Drive, Irvine, California, 92612-1531, USA.

A resurgence of interest and investment in the field of gene therapy, driven in large part by advances in viral vector technology, has recently culminated in United States Food and Drug Administration approval of the first gene therapy product targeting a disease caused by mutations in a single gene. This product, LUXTURNA™ (voretigene neparvovec-rzyl; Spark Therapeutics, Inc., Philadelphia, PA), delivers a normal copy of the RPE65 gene to retinal cells for the treatment of biallelic RPE65 mutation-associated retinal dystrophy, a blinding disease. Read More

Graefes Arch Clin Exp Ophthalmol 2018 Dec 26. Epub 2018 Dec 26.

Department of Ophthalmology, Shanghai General Hospital (Shanghai First People's Hospital), Shanghai Jiao Tong University School of Medicine, 100 Haining Road, Shanghai, 200080, China.

Purpose: To characterize two patients with macular and rod-cone dystrophy and identify the genetic basis for disease.

Method: Ophthalmic examinations were performed for the family and the peripheral blood samples were collected for whole exome sequencing. The mutated sequences of PROM1 gene were cloned and expressed in cultured cell lines after transient transfection followed by analysis with confocal microscopy and bridge-PCR. Read More

Int J Ophthalmol 2018 18;11(12):1945-1950. Epub 2018 Dec 18.

Clinical and Experimental Sciences, University of Southampton, Southampton, Hampshire SO16 6YD, UK.

Aim: To describe long term follow-up in a family with dominant cone dystrophy.

Methods: Optical coherence tomography scans and fundus autofluorescence images were obtained. Flash and pattern electroretinograms (ERGs) and occipital pattern reversal visual evoked potentials were recorded. Read More

Am J Ophthalmol Case Rep 2019 Mar 11;13:80-82. Epub 2018 Dec 11.

Casey Eye Institute at Oregon Health & Science University, United States.

Purpose: To report the case of an adolescent male with a history of Best macular dystrophy and retinal astrocytic hamartoma.

Observations: A 15 year old male with a history of Best macular dystrophy who had been followed by ophthalmology for 9 years was noted to have progressive enlargement of a superonasal peripapillary retinal lesion. Imaging and exam are consistent with a diagnosis of retinal astrocytic hamartoma. Read More

Adv Exp Med Biol 2018 ;1085:187-189

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

Pseudoxanthoma elasticum (PXE) is an autosomal recessive multisystem disorder that involves the skin, GI tract, and heart, as well as the eye. It affects approximately 1 in 50,000 people worldwide and is seen twice as frequently in females as in males. Fundus findings include angioid streaks (Fig. Read More

Adv Exp Med Biol 2018 ;1085:157-158

Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.

Autosomal recessive bestrophinopathy (ARB) results from a total absence of functional bestrophin-1 protein owing to two BEST1 mutations, one on each of the chromosomes. If present at an early age, the presenting feature could be decreased vision due to amblyopia. Refractive error is hyperopia, predisposing these eyes for acute angle-closure glaucoma. Read More

Adv Exp Med Biol 2018 ;1085:109-110

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

North Carolina macular dystrophy (NCMD) has a variable phenotype (Fig. 21.1). Read More

Adv Exp Med Biol 2018 ;1085:105-108

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

This dominantly inherited disease begins with fine, pale, drusen-like deposits or confluent faint yellow material or sheets beneath the retinal pigment epithelium (RPE), but it eventually progresses to either geographic atrophy with pigmentary clumps or scar due to choroidal neovascular membrane (at about 40 years of age) (Figs. 20.1, 20. Read More

Adv Exp Med Biol 2018 ;1085:103-104

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

Patients with occult macular dystrophy (OMD) are usually middle-aged and have progressive loss of central vision or notice central scotoma, but no significant abnormality is seen in the fundus or fluorescein angiography. Optical coherence tomography (OCT) shows loss of the ellipsoid band in the central area (Fig. 19. Read More

Adv Exp Med Biol 2018 ;1085:79-90

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

Best vitelliform macular dystrophy (VMD or BVMD) is one of the most common macular dystrophies, affecting 1 in 10,000 individuals. The clinical presentation varies, depending on the stage of the disease at which the patient presents, usually one of these five stages: Previtelliform Vitelliform (Figs. 16. Read More

Ophthalmic Physiol Opt 2018 Nov;38(6):584-595

Centre for Eye Health, University of New South Wales, Sydney, Australia.

Purpose: Recent evidence suggests several macular diseases are associated with peripheral retinal changes. This study investigated the number, type and management consequences of peripheral retinal findings detected in patients attending a referral only, eye-care clinic, the Centre for Eye Health(CFEH) with macular disease.

Methods: Records of 537 patients attending CFEH for a macular assessment were included in the study. Read More

Indian J Ophthalmol 2019 Jan;67(1):118-119

Ophthalmic Pathology Laboratory, L. V. Prasad Eye Institute, Hyderabad, Telangana, India.

Ophthalmic Surg Lasers Imaging Retina 2018 Dec;49(12):969-973

This study reports the onset of a choroidal neovascularization (CNV) in a young patient affected with Best macular dystrophy (BMD) using optical coherence tomography angiography (OCTA) and describes its changes after photodynamic therapy (PDT). In the patient's right eye (OD), OCTA scans demonstrated a large, tangled, and well-demarcated vascular network at the outer retinal (OR) and choriocapillaris (CC) layers. Best-corrected visual acuity (BCVA) was 20/40 OD. Read More

BMC Ophthalmol 2018 Dec 12;18(1):318. Epub 2018 Dec 12.

Department of Ophthalmology, Hainan General Hospital, Haikou, 570102, China.

Background: Doyne honeycomb retinal dystrophy (DHRD)/malattia leventinese (ML) is a rare allelic condition with massive drusen in the posterior fundus caused by EFEMP1 gene mutation. Patients showed decreased vision when the lesion affected the macular area. At present, the treatment efficiency is not satisfactory. Read More

Ophthalmologe 2018 Dec 11. Epub 2018 Dec 11.

Augenklinik, Ludwig-Maximilians-Universität, Mathildenstr. 8, 80336, München, Deutschland.

Background: Corneal optical coherence tomography (anterior segment OCT, AS-OCT) is described in the current IC3D classification of corneal dystrophies to be a method for improvement of clinical diagnostics and treatment.

Objective: In this case series AS-OCT images of corneal dystrophies were analyzed with respect to morphological changes.

Material And Methods: This was a retrospective imaging and morphological case series with 38 eyes. Read More

Eye (Lond) 2018 Dec 5. Epub 2018 Dec 5.

Department of Ophthalmology, Rabin Medical Center, Petach Tikva, Israel.

Purpose: To assess Descemet's membrane endothelial keratoplasty (DMEK) without performing a peripheral iridotomy (PI) prior to or during surgery ("PI-less DMEK").

Materials And Methods: This retrospective study included consecutive patients that underwent PI-less DMEK by a single surgeon (E.L) between February 2016 and February 2017 at the Rabin Medical Center, a Tertiary Hospital. Read More

Biomed Res Int 2018 18;2018:4582816. Epub 2018 Oct 18.

Department of Ophthalmology, Peking University People's Hospital, Eye Diseases and Optometry Institute, Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, College of Optometry, Peking University Health Science Center, Beijing, China.

Mutations in the gene usually cause bestrophinopathies, such as the rare progressive diseases Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). This study aimed to investigate the clinical characteristics of patients with BVMD or ARB carrying mutations. A total of 12 probands including 9 patients with a clinical diagnosis of BVMD and 3 patients with a clinical diagnosis of ARB were recruited for genetics analysis. Read More

Graefes Arch Clin Exp Ophthalmol 2019 Feb 23;257(2):273-278. Epub 2018 Nov 23.

Institut Clínic d'Oftalmologia, Hospital Clínic de Barcelona, Barcelona, Spain.

Purpose: To evaluate the efficacy of intravitreal anti-VEGF injections in choroidal neovascularization (CNV) related to pattern dystrophy-like deposit in pseudoxanthoma elasticum (PXE).

Methods: One-year prospective, interventional study. Nine eyes were recruited in the ophthalmology departments of San Raffaele University and University of Barcelona. Read More

Ophthalmic Genet 2018 Dec 19;39(6):763-770. Epub 2018 Nov 19.

a Department of Ophthalmology , Moorfields Eye Hospital , London , UK.

Background: Age-related macular degeneration (AMD) is a common sight threatening condition. However, there are a number of monogenic macular dystrophies that are clinically similar to AMD, which can potentially provide pathogenetic insights.

Methods: Three siblings from a non-consanguineous Greek-Cypriot family reported central visual disturbance and nyctalopia. Read More

J Fr Ophtalmol 2018 Dec 13;41(10):995-996. Epub 2018 Nov 13.

Service d'ophtalmologie, l'hôpital d'instruction des armées Omar BONGO ONDIMBA, BP 20404, PK9, route de melen, Libreville, Gabon.

Tunis Med 2018 Aug - Sep;96(8-09):524-527

A 15-year-old male presented with decreased vision and nystagmus from childhood. Best-corrected visual acuity was limited to 0,05/10 in both eyes. Fundus examination revealed a well-demarcated macular excavation of 2 discs diameter, baring of the underlying sclera, surrounded by a pigmented rim and hypopigmented retinal areas. Read More

Ophthalmologe 2018 Nov 13. Epub 2018 Nov 13.

Klinik für Augenheilkunde, Universitätsklinikum Freiburg, Freiburg, Deutschland.

A 53-year-old patient consulted our practice clinic complaining of progressive visual loss, increased glare sensitivity and color sense disorder. Extensive diagnostic investigation, including multifocal ERG (mfERG) and macular thickness map with the help of optical coherence tomography (OCT), supported the suspected diagnosis of a cone dystrophy. There are, however, no established therapeutic options. Read More

BMC Med Genet 2018 Nov 12;19(1):195. Epub 2018 Nov 12.

The Catherine McAuley Centre, Mater Private Hospital, Nelson Street, Dublin 7, Ireland.

Background: To describe the clinical phenotype and genetic cause underlying the disease pathology in a pedigree (affected n = 9) with X-linked retinoschisis (XLRS1) due to a novel RS1 mutation and to assess suitability for novel therapies using multimodal imaging.

Methods: The Irish National Registry for Inherited Retinal Degenerations (Target 5000) is a program including clinical history and examination with multimodal retinal imaging, electrophysiology, visual field testing and genetic analysis. Nine affected patients were identified across 3 generations of an XLRS1 pedigree. Read More

Retin Cases Brief Rep 2018 Oct 31. Epub 2018 Oct 31.

Molecular Insight Research Foundation, Glendale, California.

Purpose: To report a new family with North Carolina macular dystrophy including a patient with choroidal neovascularization (CNV).

Methods: Diagnostic modalities included fundus imaging, fluorescein angiography, optical coherence tomography, and genetic testing. The CNV was treated with intravitreal anti-vascular endothelial growth factor according to a treat-and-extend protocol in both eyes. Read More

Indian J Ophthalmol 2018 Nov;66(11):1574-1579

Department of Cornea, Cataract and Refractive Services, The Eye Foundation Hospital, Coimbatore, Tamil Nadu, India.

Purpose: To evaluate functional and anatomical outcome in patients undergoing deep anterior lamellar keratoplasty (DALK) with intraoperative Descemet's membrane (DM) perforation (macro and micro).

Methods: A retrospective cross sectional study (January 2009 to December 2015) of sixteen eyes of sixteen patients which included nine patients of advanced keratoconus (KC), two patients with paracentral DM scarring post hydrops, KC with Bowman's membrane scarring, macular corneal dystrophy and one patient of advanced Pellucid Marginal Degeneration (PMD). All underwent DALK with intraoperative DM perforation. Read More

Arq Bras Oftalmol 2018 Nov./Dec.;81(6):524-528. Epub 2018 Oct 11.

Centro Brasileiro da Visão, Brasília, DF, Brazil.

Alström syndrome is a rare disorder characterized by mutations to the ALMS1 gene and clinical findings of childhood obesity, diabetes mellitus, dilated cardiomyopathy, sensorineural hearing loss, and progressive cone-rod dystrophy, which may result in blindness. Ocular manifestations occur in the first decade of life with nystagmus, blepharospasm, and photophobia leading to progressive and severe reductions in visual acuity. This study describes the retinal structure and functional aspects of four patients (8 eyes) from two different families as determined by optical coherence tomography (OCT), fundus autofluorescence, and full-field electroretinography. Read More

Graefes Arch Clin Exp Ophthalmol 2019 Jan 15;257(1):9-22. Epub 2018 Oct 15.

Department of Surgery and Translational Medicine, University of Florence, Largo Brambilla 3, 50134, Florence, Italy.

Purpose: To evaluate the clinical phenotype of autosomal recessive NR2E3-related retinal dystrophy.

Methods: We retrospectively studied 11 patients carrying out at least 2 NR2E3 mutations; they had undergone comprehensive ophthalmological examination, fundus photography, optical coherence tomography, electrophysiological testing, and visual field at the Regional Reference Center for Hereditary Retinal Degenerations of the Eye Clinic in Florence.

Results: Five females and six males with a diagnosis of NR2E3-related retinal dystrophy were included in the study. Read More

Retina 2019 Jan;39(1):12-26

The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Science, Carver College of Medicine, University of Iowa, Iowa City, Iowa.

Purpose: To investigate the macular changes over time in eyes containing subretinal drusenoid deposits (also known as pseudodrusen) with no drusen >63 µm.

Methods: A consecutive series of patients were examined with color fundus photography, optical coherence tomography, and autofluorescence imaging with fluorescein angiography used as necessary. Exclusionary criteria included macular neovascularization, history of retinal surgery, pseudoxanthoma elasticum, and drusen >63 µm. Read More

Retin Cases Brief Rep 2018 Oct 8. Epub 2018 Oct 8.

Ophthalmology, Mayo Clinic, Rochester, Minnesota.

Purpose: To report a case of adult-onset vitelliform macular dystrophy in a patient who was found to have a previously unreported variant of the IMPG2 gene.

Methods: Case report.

Results: A 65-year-old white woman with no significant medical or ocular history presented with a complaint of persistent wavy vision for 10 months. Read More

Clin Exp Optom 2018 Oct 8. Epub 2018 Oct 8.

Centre for Eye Research Australia, Melbourne, Victoria, Australia.

Reticular pseudodrusen (RPD), also known as subretinal drusenoid deposits, represent a morphological change to the retina distinct from other subtypes of drusen by being located above the level of the retinal pigment epithelium. Although they can infrequently appear in individuals with no other apparent pathology, their highest rates of occurrence are in association with age-related macular degeneration (AMD), for which they hold clinical significance by being highly correlated with end-stage disease sub-types, choroidal neovascularisation and geographic atrophy. Reticular pseudodrusen are also found in other diseases, most notably Sorsby's fundus dystrophy, pseudoxanthoma elasticum and acquired vitelliform lesions. Read More

Br J Ophthalmol 2018 Oct 5. Epub 2018 Oct 5.

Department of Medical Retina, Moorfields Eye Hospital, London, UK

Background/aims: To report the prevalence of treatable complications (cystoid macular oedema, CME; epiretinal membrane, ERM and cataract) in patients with retinitis pigmentosa (RP).

Methods: Consecutive patients with RP attending a tertiary eye clinic in 2012. Spectral domain-optical coherence tomography was used to determine presence of CME and ERM. Read More

J Med Case Rep 2018 Oct 3;12(1):287. Epub 2018 Oct 3.

Institute of Ophthalmology, Università Cattolica del Sacro Cuore - Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome, Italy.

Background: Enhanced S-cone syndrome is an autosomal recessive retinal dystrophy related to a defect in a nuclear receptor gene (NR2E3) that leads to alteration in cells development from rod to S-cone. This retinal dystrophy may be associated with retinal schisis. The aim of this report is to describe structural optical coherence tomography and optical coherence tomography angiography features in a case of enhanced S-cone syndrome associated with macular schisis. Read More

J Med Case Rep 2018 Sep 25;12(1):281. Epub 2018 Sep 25.

Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.

Background: The neuronal ceroid lipofuscinoses are a group of neurodegenerative, lysosomal storage disorders. They are inherited as an autosomal recessive pattern with the exception of adult neuronal ceroid lipofuscinosis, which can be inherited in either an autosomal recessive or an autosomal dominant manner. The neuronal ceroid lipofuscinoses are characterized by accumulation of autofluorescent lipopigments in the cells and one of the most important pathological manifestations is ceroid accumulation in the lysosomes. Read More

J Biol Chem 2018 Nov 18;293(45):17546-17558. Epub 2018 Sep 18.

From the Department of Ophthalmology and Visual Sciences, University of Utah Health Science Center, Salt Lake City, Utah 84132,

RAB28, a member of the RAS oncogene family, is a ubiquitous, farnesylated, small GTPase of unknown function present in photoreceptors and the retinal pigmented epithelium (RPE). Nonsense mutations of the human gene cause recessive cone-rod dystrophy 18 (CRD18), characterized by macular hyperpigmentation, progressive loss of visual acuity, RPE atrophy, and severely attenuated cone and rod electroretinography (ERG) responses. In an attempt to elucidate the disease-causing mechanism, we generated mice by deleting exon 3 and truncating RAB28 after exon 2. Read More