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Ophthalmic Genet 2019 Apr 22:1-5. Epub 2019 Apr 22.

a Genetics Research Center , University of Social Welfare and Rehabilitation Sciences , Tehran , Iran.

Background: Cone-rod dystrophies are a group of genetically and phenotypically heterogeneous inherited degenerative retinal diseases primarily affecting macular and cone system function. MFSD8 loss-of-function variants are mainly related to the variant late-infantile neuronal ceroid lipofuscinoses which present with progressive motor and mental regression in combination with seizures, ataxia, and visual impairment.

Material And Methods: Clinical examination and genomic DNA extraction were collected from two unrelated Iranian families presenting with autosomal recessive cone-rod dystrophy. Read More

Prog Retin Eye Res 2019 Apr 15. Epub 2019 Apr 15.

University of Iceland, Reykjavik, Iceland.

Retinal oximetry imaging of retinal blood vessels measures oxygen saturation of hemoglobin. The imaging technology is non-invasive and reproducible with remarkably low variability on test-retest studies and in healthy cohorts. Pathophysiological principles and novel biomarkers in several retinal diseases have been discovered, as well as possible applications for systemic and brain disease. Read More

BMJ Open Ophthalmol 2019 16;4(1):e000234. Epub 2019 Feb 16.

Department of Paediatric Ophthalmology, Bristol Eye Hospital, Bristol, UK.

Objective: The ubiquitin-proteasome system pathway has been recognised as a crucial cellular mechanism for the proper function of photoreceptor cells. In particular, ubiquitin ligases (E3s) recognise and ubiquitinate specific proteins for degradation. The KLHL7 protein (a BTB-Kelch protein) has been found to play an important role in this process. Read More

Sci Rep 2019 Apr 15;9(1):6078. Epub 2019 Apr 15.

Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth, 6150, Australia.

Antisense oligonucleotide (AO)-mediated splice modulation has been established as a therapeutic approach for tackling genetic diseases. Recently, Exondys51, a drug that aims to correct splicing defects in the dystrophin gene was approved by the US Food and Drug Administration (FDA) for the treatment of Duchenne muscular dystrophy (DMD). However, Exondys51 has relied on phosphorodiamidate morpholino oligomer (PMO) chemistry which poses challenges in the cost of production and compatibility with conventional oligonucleotide synthesis procedures. Read More

Retina 2019 Apr 10. Epub 2019 Apr 10.

Department of Ophthalmology, Inselspital, Bern University Hospital, Bern, Switzerland.

Purpose: Stargardt disease is the most common inherited juvenile macular dystrophy and is characterized by yellowish flecks across the posterior pole. The purpose of this study was to investigate fluorescence lifetime changes of retinal flecks over time using fluorescence lifetime imaging ophthalmoscopy.

Methods: Longitudinal fluorescence lifetime data of 12 patients with Stargardt disease (mean age ± SEM, 42. Read More

Prog Retin Eye Res 2019 03 25;69:137-158. Epub 2018 Oct 25.

Oklahoma Center for Neurosciences, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA; Dean McGee Eye Institute, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA; Department of Ophthalmology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA; Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA; Harold Hamm Diabetes Center, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA. Electronic address:

ELOngation of Very Long chain fatty acids-4 (ELOVL4) is an elongase responsible for the biosynthesis of very long chain (VLC, ≥C28) saturated (VLC-SFA) and polyunsaturated (VLC-PUFA) fatty acids in brain, retina, skin, Meibomian glands, and testes. Fascinatingly, different mutations in this gene have been reported to cause vastly different phenotypes in humans. Heterozygous inheritance of seven different mutations in the coding sequence and 5' untranslated region of ELOVL4 causes autosomal dominant Stargardt-like macular dystrophy (STGD3), while homozygous inheritance of three more mutant variants causes severe seizures with ichthyosis, hypertonia, and even death. Read More

Br J Ophthalmol 2019 Apr 12. Epub 2019 Apr 12.

Moorfields Eye Hospital NHS Foundation Trust, London, UK.

Background: Defects in retinol dehydrogenase 12 () account for 3.4%-10.5 % of Leber congenital amaurosis and early-onset severe retinal dystrophy (EOSRD) and are a potential target for gene therapy. Read More

Eye (Lond) 2019 Apr 10. Epub 2019 Apr 10.

Eye Clinic, Cantonal Hospital of Lucerne, Lucerne, Switzerland.

Objective: To investigate the diagnostic accuracy of optical coherence tomography angiography (OCTA) in detecting vascular characteristics of chorio-retinal disease.

Methods: Evidence acquisition: We searched Web of Science, Scopus, and Medline by the citation of references and complemented these electronic searches by checking the list of references of included and review articles. Screening, selection, assessment, and extraction was performed in parallel by two authors. Read More

J Ophthalmol 2019 7;2019:6051724. Epub 2019 Mar 7.

Dipartimento Neuro-muscoloscheletrico e Organi di Senso, Azienda Ospedaliera Universitaria di Careggi, Florence, Italy.

Introduction: Recurrent or persistent macular holes (MHs) are rare today due to the tendency to carefully peel the internal limiting membrane. Conversely, their treatment is still a challenge for a vitreoretinal surgeon.

Materials And Methods: This is a retrospective, consecutive, and nonrandomized study of patients affected by recurrent or persistent MHs treated using small-gauge pars plana vitrectomy (25- or 23-gauge) and an autologous ILM plug, at the Eye Clinic of Azienda Ospedaliera Universitaria Careggi (Florence, Italy) between January 2016 and May 2018. Read More

Am J Ophthalmol Case Rep 2019 Jun 14;14:79-82. Epub 2019 Mar 14.

Retina Consultants of Orange County, Fullerton, CA, USA.

Purpose: To describe a case of rapid displacement of subretinal hemorrhage (SRH) from a choroidal neovascular membrane (CNV) with intravitreal injection of C3F8 gas.

Observations: A 66-year-old patient presented in clinic with count fingers (CF) vision from a fibrovascular scar in the right eye (OD) and 20/30 vision in the left eye (OS) with butterfly dystrophy. His left eye developed a CNV and was managed with monthly intravitreal anti-VEGF agents for 29 months. Read More

Ophthalmic Genet 2019 Apr 3:1-6. Epub 2019 Apr 3.

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

Purpose: To describe the clinical features of 2 unrelated families affected with Benign Yellow Dot Maculopathy and to analyze anatomical and functional findings of this peculiar phenotype Methods: Case series Results: We retrospectively described 5 patients (3 males, 2 females) affected with Benign Yellow Dot Maculopathy. The mean age at referral was 50,8 years (range 34-69 yrs.). Read More

Br J Ophthalmol 2019 Mar 28. Epub 2019 Mar 28.

Department of Ophthalmology, University of Bonn, Bonn, Germany

Aim: Biallelic mutations cause pseudoxanthoma elasticum, a systemic disease characterised by calcification of elastic tissue and a specific retinal phenotype. In this study, we investigated if monoallelic mutations are also associated with retinal alterations.

Methods: In this prospective, cross-sectional, monocentre case-control study, carriers of monoallelic mutations were investigated and compared with age-matched controls. Read More

Invest Ophthalmol Vis Sci 2019 Mar;60(4):1192-1203

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

Purpose: To describe the clinical and genetic spectrum of RP1-associated retinal dystrophies.

Methods: In this multicenter case series, we included 22 patients with RP1-associated retinal dystrophies from 19 families from The Netherlands and Japan. Data on clinical characteristics, visual acuity, visual field, ERG, and retinal imaging were extracted from medical records over a mean follow-up of 8. Read More

Optom Vis Sci 2019 Apr;96(4):314-321

SUNY State College of Optometry, New York, New York.

Significance: Pattern dystrophies of the retinal pigment epithelium, often misdiagnosed as other macular conditions, were once considered a rare retinal disease. However, an increasing number of cases have recently been discovered owing to advancements in multimodal imaging and increased awareness of the condition.

Purpose: The purposes of this study were to increase awareness of pattern dystrophies and to review how to accurately diagnose and manage pattern dystrophies by understanding their presentation on fundus autofluorescence, optical coherence tomography, and electrodiagnostic testing. Read More

Clin Ophthalmol 2019 5;13:465-475. Epub 2019 Mar 5.

Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Israel,

Purpose: To determine the pupil response of Best vitelliform macular dystrophy (BVMD) patients for focal blue and red light stimuli presented at 76 test points in a 16.2° visual field (VF) using a chromatic pupilloperimeter.

Methods: An observational study was conducted in 16 participants: 7 BVMD patients with a heterozygous BEST1 mutation and 9 similar-aged controls. Read More

Doc Ophthalmol 2019 Mar 15. Epub 2019 Mar 15.

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

Purpose: To report clinical and genetic features including long-term full-field electroretinography (FF-ERG) findings of a patient with cone dystrophy with supernormal rod responses (CDSRR).

Methods: Ophthalmological medical records including FF-ERG were retrospectively reviewed. Genetic analysis using whole-exome sequencing (WES) was performed. Read More

Clin Case Rep 2019 Feb 8;7(2):389-390. Epub 2019 Jan 8.

Retina Division Fundación Hospital Nuestra Señora de la Luz México City México.

Posterior polar annular choroidal dystrophy (PPACD) is an uncommon retinal dystrophy causing nyctalopia. PPACD has been characteristically described as a foveal sparing dystrophy. We report the first case with cystoid macular edema association. Read More

Mol Ther Nucleic Acids 2019 Feb 2;16:38-50. Epub 2019 Feb 2.

Department of Biomedicine, Aarhus University, 8000 Aarhus C, Denmark; Department of Ophthalmology, Aarhus University Hospital, 8000 Aarhus C, Denmark. Electronic address:

Vascular endothelial growth factor A (VEGFA) is involved in the pathogenesis of vasoproliferative retinal diseases, such as exudative age-related macular degeneration (AMD). The objective of this study was to investigate whether dual-acting therapy based on the simultaneous expression of anti-VEGFA microRNAs (miRNAs) and the secreted, antiangiogenic protein pigment endothelial-derived factor (PEDF) delivered by adeno-associated virus (AAV) vectors provides improved protection against choroidal neovascularization (CNV). To investigate this, a multigenic AAV vector allowing retina pigment epithelium (RPE)-specific expression of anti-VEGFA miRNAs and PEDF was engineered. Read More

Ophthalmic Genet 2019 Feb;40(1):60-63

a Eye Institute , Cleveland Clinic Abu Dhabi , Abu Dhabi , United Arab Emirates.

Purpose: Heterozygous peripherin mutation is associated with a wide range of typically adult-onset retinal phenotypes which can include asymptomatic maculopathy. There are few reports of biallelic peripherin mutations, only one of which detailed the ophthalmic phenotype. This report documents the retinal phenotype associated with homozygosity for a known peripherin mutation (c. Read More

J Neurosci 2019 Feb 28. Epub 2019 Feb 28.

Department of Ophthalmology

Peripherin 2 (PRPH2) is a tetraspanin protein concentrated in the light-sensing cilium (called the outer segment) of the vertebrate photoreceptor. The mechanism underlying the ciliary targeting of PRPH2 and the etiology of cone dystrophy caused by PRPH2 mutations remain elusive. Here we show that the late endosome (LE) is the main waystation that critically sorts newly-synthesized PRPH2 to the cilium. Read More

Cornea 2019 May;38(5):553-558

Cornea, External Disorders and Refractive Surgery Department, Fondation A. de Rothschild, Paris, France.

Purpose: To describe the functional outcome, postoperative complications, and complication management of Descemet's membrane endothelial keratoplasty (DMEK) in corneal decompensation secondary to Herpes simplex eye disease (HED).

Methods: This retrospective interventional case series included 17 eyes that received DMEK for endothelial decompensation secondary to HED. Complete ophthalmological examination, including corrected-distance visual acuity (CDVA), anterior segment slit-lamp, and optical coherence tomography assessment, were performed preoperatively and postoperatively at regular follow-up intervals. Read More

Oman J Ophthalmol 2019 Jan-Apr;12(1):37-41

Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.

Best vitelliform macular dystrophy (VMD) is an autosomal dominant macular dystrophy caused by heterozygous mutations in the bestrophin1 gene. Patients with this condition typically have an abnormal electrooculogram. We report a case of a 16-year-old male who presented with gradual progressive vision loss in the right eye. Read More

Ophthalmic Genet 2019 Feb 7;40(1):49-53. 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 May 14;40(5):578-587. Epub 2019 Feb 14.

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 Apr 11;19(4):335-342. Epub 2019 Feb 11.

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 May 6;40(5):539-551. Epub 2019 Feb 6.

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 2018 ;24(40):4726-4741

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

Background: Oxidative stress is caused by free radicals or oxidant productions, including lipid peroxidation, protein modification, DNA damage and apoptosis or cell death and results in cellular degeneration and neurodegeneration from damage to macromolecules.

Results: 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. Significantly higher levels of these products in comparison with the controls 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 2019 Mar 26;257(3):619-628. 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 11;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.