2,258 results match your criteria Dystrophy Macular


Doyne honeycomb retinal dystrophy/malattia leventinese induced by EFEMP1 mutation in a Chinese family.

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

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http://dx.doi.org/10.1186/s12886-018-0988-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292057PMC
December 2018

[Corneal dystrophies in optical coherence tomography].

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

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http://link.springer.com/10.1007/s00347-018-0832-8
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http://dx.doi.org/10.1007/s00347-018-0832-8DOI Listing
December 2018
2 Reads

"PI-less DMEK": results of Descemet's membrane endothelial keratoplasty (DMEK) without a peripheral iridotomy.

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

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http://dx.doi.org/10.1038/s41433-018-0294-xDOI Listing
December 2018
3 Reads

Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population.

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

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http://dx.doi.org/10.1155/2018/4582816DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6220750PMC
October 2018
1 Read

Anti-VEGF treatment for choroidal neovascularization complicating pattern dystrophy-like deposit associated with pseudoxanthoma elasticum.

Graefes Arch Clin Exp Ophthalmol 2018 Nov 23. 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

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http://dx.doi.org/10.1007/s00417-018-4190-7DOI Listing
November 2018
7 Reads

Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration.

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

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https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1
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http://dx.doi.org/10.1080/13816810.2018.1546406DOI Listing
December 2018
3 Reads

[Posttraumatic macular dystrophy].

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.

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https://linkinghub.elsevier.com/retrieve/pii/S01815512183036
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http://dx.doi.org/10.1016/j.jfo.2018.03.011DOI Listing
December 2018
4 Reads

Bilateral congenital macular coloboma: Swept-source optical coherence tomography findings.

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

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November 2018
1 Read

[Progressive loss of vision in cone dystrophy. Search for evidence with macular OCT and multifocal ERG].

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

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http://dx.doi.org/10.1007/s00347-018-0804-zDOI Listing
November 2018

Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant.

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

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0712-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233547PMC
November 2018
6 Reads

CHOROIDAL NEOVASCULARIZATION IN NORTH CAROLINA MACULAR DYSTROPHY RESPONSIVE TO ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR THERAPY.

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

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http://dx.doi.org/10.1097/ICB.0000000000000838DOI Listing
October 2018
1 Read

Outcome of deep anterior lamellar keratoplasty patients with intraoperative Descemet's membrane perforation: A retrospective cross-sectional study.

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

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http://dx.doi.org/10.4103/ijo.IJO_282_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6213700PMC
November 2018
4 Reads

Morphological and functional findings in Alström syndrome: a study of two families.

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

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http://www.gnresearch.org/doi/10.5935/0004-2749.20180102
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http://dx.doi.org/10.5935/0004-2749.20180102DOI Listing
October 2018
3 Reads

Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy.

Graefes Arch Clin Exp Ophthalmol 2018 Oct 15. 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

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http://dx.doi.org/10.1007/s00417-018-4161-zDOI Listing
October 2018
1 Read

EYES WITH SUBRETINAL DRUSENOID DEPOSITS AND NO DRUSEN: Progression of Macular Findings.

Retina 2018 Oct 10. Epub 2018 Oct 10.

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

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http://Insights.ovid.com/crossref?an=00006982-900000000-9633
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http://dx.doi.org/10.1097/IAE.0000000000002362DOI Listing
October 2018
1 Read

ADULT-ONSET VITELLIFORM MACULAR DYSTROPHY SECONDARY TO A NOVEL IMPG2 GENE VARIANT.

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

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http://Insights.ovid.com/crossref?an=01271216-900000000-9875
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http://dx.doi.org/10.1097/ICB.0000000000000824DOI Listing
October 2018
7 Reads

Reticular pseudodrusen: current understanding.

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

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http://doi.wiley.com/10.1111/cxo.12842
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http://dx.doi.org/10.1111/cxo.12842DOI Listing
October 2018
5 Reads

Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa.

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

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http://dx.doi.org/10.1136/bjophthalmol-2018-311964DOI Listing
October 2018
1 Read

Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report.

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

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https://jmedicalcasereports.biomedcentral.com/articles/10.11
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http://dx.doi.org/10.1186/s13256-018-1819-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169104PMC
October 2018
2 Reads

Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report.

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

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http://dx.doi.org/10.1186/s13256-018-1788-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6154911PMC
September 2018

The small GTPase RAB28 is required for phagocytosis of cone outer segments by the murine retinal pigmented epithelium.

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

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http://dx.doi.org/10.1074/jbc.RA118.005484DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231133PMC
November 2018
1 Read

Photic maculopathy: A review of the literature (I).

Arch Soc Esp Oftalmol 2018 Nov 15;93(11):530-541. Epub 2018 Sep 15.

Servicio de Oftalmología, Hospital Universitario del Henares, Coslada, Madrid, España; Universidad Francisco de Vitoria, Pozuelo de Alarcón, Madrid, España.

The human retina, as transducer of light energy, is especially exposed to light toxicity. Solar maculopathy has been the only form of photic maculopathy for millennia, often secondary to the observation of an eclipse. During the last century, technological advances have led to the appearance of new forms of photic maculopathy, related to the exposure to new forms of artificial light, such as welding devices and lasers. Read More

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http://dx.doi.org/10.1016/j.oftal.2018.06.010DOI Listing
November 2018

Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.

Clin Genet 2018 Dec 15;94(6):569-574. Epub 2018 Oct 15.

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

It can be clinically challenging to distinguish dry age-related macular degeneration (AMD) from AMD-mimicking dystrophies, and sometimes misdiagnosis occurs. With upcoming therapies for dry AMD it is important to exclude patients with a different retinal disease from clinical trials. In this study we evaluated the occurrence of AMD-mimicking dystrophies in an AMD cohort. Read More

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http://dx.doi.org/10.1111/cge.13447DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282796PMC
December 2018
1 Read

Pattern dystrophies in patients treated with deferoxamine: report of two cases and review of the literature.

BMC Ophthalmol 2018 Sep 12;18(1):246. Epub 2018 Sep 12.

Department of Ophthalmology, Medical School, University of Patras, 265 04, Patras, Greece.

Background: Deferoxamine (DFO) is one of the most commonly used chelation treatments for transfusional hemosiderosis. Pattern dystrophies constitute a distinct entity of retinal disorders that has been occasionally identified in association with deferoxamine.

Case Presentation: We report two cases of bilateral macular pattern dystrophy in transfusion dependent patients undergoing chronic chelation therapy with deferoxamine due to thalassemias. Read More

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http://dx.doi.org/10.1186/s12886-018-0911-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134579PMC
September 2018
1 Read

Ophthalmological findings in ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: a case report.

Arq Bras Oftalmol 2018 Sep-Oct;81(5):440-442

Fundación Barceló, Buenos Aires, Argentina.

We report on a case of two sisters, daughters of consanguineous parents, presenting with a similar condition of low visual acuity associated with retinal dystrophy in both eyes associated with alopecia and bone alterations or syndactyly. Read More

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http://www.gnresearch.org/doi/10.5935/0004-2749.20180085
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http://dx.doi.org/10.5935/0004-2749.20180085DOI Listing
January 2018
9 Reads

Fibrotic pillar leads to focal choroidal excavation in Best vitelliform dystrophy.

Graefes Arch Clin Exp Ophthalmol 2018 Nov 31;256(11):2083-2087. Epub 2018 Aug 31.

Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, 110029, India.

Purpose: To study focal choroidal excavations in patients with Best vitelliform dystrophy using optical coherence tomography and their topographical relation with fibrotic pillars.

Methods: This is a retrospective cross-sectional study of consecutive patients diagnosed with Best vitelliform dystrophy at a tertiary eye care center. Records of patients with Best vitelliform dystrophy were reviewed for best-corrected visual acuity, color fundus photographs, shortwave autofluorescence, optical coherence tomography, and electrooculogram with special emphasis on the presence of focal choroidal excavation (FCE) and fibrotic pillar. Read More

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http://link.springer.com/10.1007/s00417-018-4120-8
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http://dx.doi.org/10.1007/s00417-018-4120-8DOI Listing
November 2018
6 Reads

A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis.

J Cell Mol Med 2018 Nov 30;22(11):5662-5669. Epub 2018 Aug 30.

Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China.

Retinal dystrophy is an inherited, heterogeneous, chronic and progressive disorder of visual functions. The mutations of patients with autosomal recessive retinal retinopathy cone-and-rod dysfunction and macular dystrophy have not been well described in the Chinese population. In this study, a three-generation Chinese retinal dystrophy family was recruited. Read More

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http://dx.doi.org/10.1111/jcmm.13841DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6201214PMC
November 2018

The uncommon occurrence of two common inherited disorders in a single patient: a mini case series.

Ophthalmic Genet 2018 Oct 29;39(5):631-636. Epub 2018 Aug 29.

a Department of Ophthalmology and Visual Sciences , Carver College of Medicine, University of Iowa , Iowa City , IA, USA.

Background: Inherited eye disorders are genetically determined conditions that are present from birth and usually manifest early, although some may develop later in life. Despite their low incidence, they are a common etiology of pediatric blindness. The occurrence of more than one such disease in a patient is very rare. Read More

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https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1
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http://dx.doi.org/10.1080/13816810.2018.1498530DOI Listing
October 2018
8 Reads

Sorsby fundus dystrophy: Insights from the past and looking to the future.

J Neurosci Res 2019 Jan 21;97(1):88-97. Epub 2018 Aug 21.

Institute of Human Genetics, Universität Regensburg, Regensburg, Germany.

Sorsby fundus dystrophy (SFD), an autosomal dominant, fully penetrant, degenerative disease of the macula, is manifested by symptoms of night blindness or sudden loss of visual acuity, usually in the third to fourth decades of life due to choroidal neovascularization (CNV). SFD is caused by specific mutations in the Tissue Inhibitor of Metalloproteinase-3, (TIMP3) gene. The predominant histo-pathological feature in the eyes of patients with SFD are confluent 20-30 m thick, amorphous deposits found between the basement membrane of the retinal pigment epithelium (RPE) and the inner collagenous layer of Bruch's membrane. Read More

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http://dx.doi.org/10.1002/jnr.24317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6241301PMC
January 2019
10 Reads

Stargardt macular dystrophy and evolving therapies.

Expert Opin Biol Ther 2018 Oct 10;18(10):1049-1059. Epub 2018 Sep 10.

a Department of Ophthalmology, Bascom Palmer Eye Institute , University of Miami Miller School of Medicine , Miami , FL , USA.

Introduction: Stargardt macular dystrophy (STGD1) is a hereditary retinal degeneration that lacks effective treatment options. Gene therapy, stem cell therapy, and pharmacotherapy with visual cycle modulators (VCMs) and complement inhibitors are discussed as potential treatments. Areas covered: Investigational therapies for STGD1 aim to reduce toxic bisretinoids and lipofuscin in the retina and retinal pigment epithelium (RPE). Read More

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http://dx.doi.org/10.1080/14712598.2018.1513486DOI Listing
October 2018
8 Reads
3.740 Impact Factor

Multimodal imaging in Multifocal Best disease.

Indian J Ophthalmol 2018 09;66(9):1313-1315

Department of Vitreo Retina, Aditya Birla Sankara Nethralaya, Kolkata, West Bengal, India.

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http://www.ijo.in/text.asp?2018/66/9/1313/239368
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http://dx.doi.org/10.4103/ijo.IJO_70_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6113846PMC
September 2018
1 Read

Expression and Purification of Mammalian Bestrophin Ion Channels.

J Vis Exp 2018 08 2(138). Epub 2018 Aug 2.

Department of Pharmacology and Physiology, University of Rochester, School of Medicine and Dentistry;

The human genome encodes four bestrophin paralogs, namely BEST1, BEST2, BEST3, and BEST4. BEST1, encoded by the BEST1 gene, is a Ca-activated Cl channel (CaCC) predominantly expressed in retinal pigment epithelium (RPE). The physiological and pathological significance of BEST1 is highlighted by the fact that over 200 distinct mutations in the BEST1 gene have been genetically linked to a spectrum of at least five retinal degenerative disorders, such as Best vitelliform macular dystrophy (Best disease). Read More

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http://dx.doi.org/10.3791/57832DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126599PMC

Photic maculopathy: A review of the literature (ii).

Arch Soc Esp Oftalmol 2018 Nov 16;93(11):542-550. Epub 2018 Aug 16.

Servicio de Oftalmología, Hospital Universitario del Henares, Coslada, Madrid, España; Universidad Francisco de Vitoria, Pozuelo de Alarcón, Madrid, España.

The human retina, as transducer of light energy, is especially exposed to light toxicity. Solar maculopathy has been the only form of photic maculopathy for millennia, often secondary to the observation of an eclipse. During the last century, technological advances have led to the appearance of new forms of photic maculopathy, related to the exposure to new forms of artificial light, such as welding devices and lasers. Read More

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http://dx.doi.org/10.1016/j.oftal.2018.06.012DOI Listing
November 2018
1 Read

Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis.

J Ophthalmol 2018 11;2018:2984934. Epub 2018 Jul 11.

Department of Otorhinolaryngology, School of Medicine, University of Maryland, Baltimore, MD, USA.

Purpose: To present new clinical features, multimodal and ultrawide-field imaging characteristics of peripheral cone dystrophy (PCD), and results of laboratory and genetic investigation to decipher the etiology.

Methods: Retrospective observational case-series.

Results: Three patients with PCD presented with bilateral paracentral scotomas and a mean visual acuity of 20/25. Read More

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http://dx.doi.org/10.1155/2018/2984934DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079493PMC

Choriocapillaris Hypoperfusion Artifact in OCT Angiography.

Ophthalmic Surg Lasers Imaging Retina 2018 Aug;49(8):603-610

Background And Objective: To illustrate how optical coherence tomography (OCT) angiography (OCTA) can be misinterpreted if not evaluated along with structural en face OCT to analyze the signal intensity.

Patients And Methods: Patients with different macular diseases associated with suspicious flow impairment in the choriocapillaris were recruited to be imaged on the RTVue XR Avanti device (Optovue, Fremont, CA) with the Angio Retina mode. En face OCT angiograms, structural en face OCT, and corresponding OCT B-scans with flow signal overlaid were compared to evaluate the correspondence of signal strength to areas of flow reduction in the choriocapillaris. Read More

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http://dx.doi.org/10.3928/23258160-20180803-08DOI Listing
August 2018
1 Read

The treatment of refractory angle-closure glaucoma in a patient with X-linked juvenile retinoschisis.

Ophthalmic Genet 2018 Oct 6;39(5):625-627. Epub 2018 Aug 6.

a Moorfields Eye Hospital NHS Foundation Trust , London , United Kingdom.

X-Linked Retinoschisis (XLRS) is a common genetically determined form of macular degeneration affecting young males. XLRS is due to mutations in the RS1 gene located on chromosome Xp22 which codes for retinoschisin and is estimated to affect between 1:5000 to 1:20000 individuals worldwide. We report a case of refractory angle-closure glaucoma in a thirty-nine-year-old Caucasian man with atypical XLRS. Read More

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http://dx.doi.org/10.1080/13816810.2018.1490961DOI Listing
October 2018
8 Reads

Multimodal Imaging in Autosomal Dominant Cone-Rod Dystrophy Caused by Novel CRX Variant.

Ophthalmic Res 2018 3;60(3):169-175. Epub 2018 Aug 3.

Imperial College Ophthalmic Research Unit, Western Eye Hospital, Imperial College Healthcare NHS Trust, London, United Kingdom.

Aim: To characterize by multimodal approach the phenotype of patients from a 3 generations pedigree, affected by autosomal dominant cone-rod dystrophy (CRD), found to carry a novel pathogenic variant in the cone-rod homeobox-containing (CRX) gene.

Methods: Examination of the adult patients included the following tests: visual acuity, multicolour imaging, spectral domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF) and OCT angiography (OCT-A) recordings. In a 2. Read More

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http://dx.doi.org/10.1159/000489460DOI Listing
October 2018
3 Reads

CRX-linked macular dystrophy with intrafamilial variable expressivity.

Ophthalmic Genet 2018 Oct 1;39(5):637-641. Epub 2018 Aug 1.

a Jules-Gonin Eye Hospital, Department of Ophthalmology , University of Lausanne , Lausanne , Switzerland.

Background: We present a macular dystrophy of differing severity in a single kindred caused by a heterozygous nonsense mutation in CRX.

Case Report: A 21-year-old Caucasian male from a Swiss family was investigated for decreasing central visual acuity associated with dischromatopsia. Clinical examination revealed posterior pole atrophy, including the maculopapillary bundle. Read More

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http://dx.doi.org/10.1080/13816810.2018.1502789DOI Listing
October 2018

Atypical presentation of Coats' Syndrome in facioscapulohumeral dystrophy - Reflecting the variation in phenotypic manifestations.

Am J Ophthalmol Case Rep 2018 Sep 21;11:17-18. Epub 2018 Apr 21.

Brighton and Sussex University Hospitals NHS Trust, Sussex Eye Hospital, Eastern Road, Brighton, BN2 5BF, United Kingdom.

Purpose: To report a unique case of atypical Coats' Syndrome in an 80 year old female with facioscapulohumeral dystrophy.

Observations: An 80 years old female was diagnosed clinically of retinal telangiectasia with exudation threatening the fovia. She received a successful macular laser photocoagulation with subsequent cessation of leakage. Read More

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http://dx.doi.org/10.1016/j.ajoc.2018.04.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061899PMC
September 2018

Primary graft failure after big bubble deep anterior lamellar keratoplasty in macular corneal dystrophy.

Indian J Ophthalmol 2018 08;66(8):1196-1197

Cornea and Anterior Segment Services, LV Prasad Eye Institute, Hyderabad, Telangana, India.

Macular corneal dystrophy is autosomal recessive dystrophy characterized by deposits of abnormal glycosaminoglycans in stromal lamellae and within endothelial cells. Deep anterior lamellar keratoplasty is successful in the management of this dystrophy. We herein describe three cases of primary graft failure after uneventful big bubble deep anterior lamellar keratoplasty for macular corneal dystrophy. Read More

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http://dx.doi.org/10.4103/ijo.IJO_220_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080430PMC
August 2018
2 Reads

TOPICAL DORZOLAMIDE FOR CYSTOID MACULAR EDEMA IN BIETTI CRYSTALLINE RETINAL DYSTROPHY.

Retin Cases Brief Rep 2018 Jul 17. Epub 2018 Jul 17.

Eye Research Center,Farabi Eye Hospital, Tehran University of Medical Science, Tehran, Iran.

Purpose: To report a case of Bietti crystalline retinal dystrophy with cystoid macular edema (CME) that was successfully treated with topical carbonic anhydrase inhibitor.

Methods: A 35-year-old otherwise healthy woman, with a known case of Bietti crystalline retinal dystrophy, presented with progressive visual impairment in her right eye for 3 months. The best-corrected visual acuity was 20/50 in the right eye and 20/25 in the left eye. Read More

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http://dx.doi.org/10.1097/ICB.0000000000000792DOI Listing
July 2018
1 Read

Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.

Invest Ophthalmol Vis Sci 2018 Jun;59(7):3041-3052

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.

Purpose: Mutations in the retinitis pigmentosa-1-like-1 (RP1L1) gene are the major cause of autosomal dominant occult macular dystrophy (OCMD), while recessive mutations have been linked to autosomal recessive retinitis pigmentosa (arRP). We present the clinical phenotype of a large German OCMD cohort, as well as four RP patients.

Methods: A total of 42 OCMD patients (27 families) and 4 arRP patients (3 families) with genetically confirmed mutations in RP1L1 were included. Read More

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http://dx.doi.org/10.1167/iovs.18-24033DOI Listing
June 2018
4 Reads

A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM.

Retin Cases Brief Rep 2018 Jul 11. Epub 2018 Jul 11.

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

Purpose: To report two siblings with NMNAT1-associated retinopathy presenting with a later onset and milder phenotype than previously described.

Methods: Retrospective case series of two siblings. The authors describe two cases of early-onset retinal dystrophy caused by disease-causing NMNAT1 variants. Read More

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http://dx.doi.org/10.1097/ICB.0000000000000754DOI Listing
July 2018
5 Reads

Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT.

Doc Ophthalmol 2018 Jul 10. Epub 2018 Jul 10.

Department of Ophthalmology, IRCCS Policlinico San Matteo, Pavia, Italy.

Purpose: Joubert syndrome (JS) is an inherited autosomal recessive or X-lined disorder characterized by a congenital malformation of the mid-hindbrain and a large spectrum of clinical features. It is estimated that retinal dystrophy is present in association with the typical neurological findings in about one-third of the patients. The aim of this study is to better characterize the macular region in JS patients with and without retinal dystrophy. Read More

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http://dx.doi.org/10.1007/s10633-018-9646-xDOI Listing
July 2018
4 Reads

Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients.

Sci Rep 2018 Jul 5;8(1):10176. Epub 2018 Jul 5.

Department of Molecular Biology, Genentech Inc, San Francisco, USA.

Bestinopathies are a spectrum of retinal disorders associated with mutations in BEST1 including autosomal recessive bestrophinopathy (ARB) and autosomal dominant Best vitelliform macular dystrophy (BVMD). We applied whole-exome sequencing on four unrelated Indian families comprising eight affected and twelve unaffected individuals. We identified five mutations in BEST1, including p. Read More

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http://www.nature.com/articles/s41598-018-27951-8
Publisher Site
http://dx.doi.org/10.1038/s41598-018-27951-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6033935PMC
July 2018
11 Reads

Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation.

Hum Mol Genet 2018 Oct;27(20):3507-3518

Department of Biomedical Engineering, University of Houston, Houston, TX, USA.

Mutations in peripherin 2 (PRPH2, also known as Rds), a tetraspanin protein found in photoreceptor outer segments (OSs), cause retinal degeneration ranging from rod-dominant retinitis pigmentosa (RP) to cone-dominant macular dystrophy (MD). Understanding why some Prph2 mutants affect rods while others affect cones remains a critical unanswered question. Prph2 is essential for OS structure and function and exhibits a very specific pattern of oligomerization with its homolog Rom1. Read More

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http://dx.doi.org/10.1093/hmg/ddy240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6168975PMC
October 2018
14 Reads

["The Big Five" - Cataract Surgery Under Multiple Ocular Comorbidity: Customised Approach to Prevent Complications].

Klin Monbl Augenheilkd 2018 Aug 29;235(8):894-897. Epub 2018 Jun 29.

Praxis Borkenstein & Borkenstein, Privatklinik der Kreuzschwestern Graz, Österreich.

The co-occurence of 5 diseases (cataract, Fuchs dystrophy, pseudoexfoliation syndrome, age-related macular degeneration and dry eye syndrome) can lead to massive impairment of visual acuity. Our case series show that cataract surgery can lead to an enormous profit in visual rehabilitation and therefore in daily routine. Read More

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http://dx.doi.org/10.1055/a-0621-9361DOI Listing

Fixation behavior in macular dystrophy assessed by microperimetry.

Graefes Arch Clin Exp Ophthalmol 2018 Aug 9;256(8):1403-1410. Epub 2018 Jun 9.

Department of Ophthalmology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, No.123, Dapi Rd., Niaosong Dist., Kaohsiung City, 83301, Taiwan.

Purpose: To investigate the fixation behavior in macular dystrophy using microperimetry.

Methods: This retrospective study included patients with macular dystrophy and unilateral macular pucker. Macular dystrophic eyes were compared based on fixation within or outside of the atrophic region. Read More

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http://dx.doi.org/10.1007/s00417-018-4006-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060756PMC
August 2018
2 Reads

Identification and characterization of the VAX2 p.Leu139Arg variant: possible involvement of VAX2 in cone dystrophy.

Ophthalmic Genet 2018 Aug;39(4):539-543

a Institute of Ophthalmology , UCL , London , UK.

Objective: This study was undertaken with the objective to investigate the potential involvement of VAX2 in retinal degeneration.

Methods: A cohort of macular and cone dystrophy patients (n = 70) was screened for variant identification. Polymerase chain reaction (PCR) products were purified using ExoSAP-IT. Read More

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http://dx.doi.org/10.1080/13816810.2018.1484927DOI Listing
August 2018
3 Reads

Visual brain plasticity induced by central and peripheral visual field loss.

Brain Struct Funct 2018 Jun 23. Epub 2018 Jun 23.

Frontlab, UPMC Univ Paris 06, Inserm, CNRS, Institut du cerveau et la moelle (ICM), Hôpital Pitié-Salpêtrière, Boulevard de l'hôpital, 75013, Paris, France.

Disorders that specifically affect central and peripheral vision constitute invaluable models to study how the human brain adapts to visual deafferentation. We explored cortical changes after the loss of central or peripheral vision. Cortical thickness (CoTks) and resting-state cortical entropy (rs-CoEn), as a surrogate for neural and synaptic complexity, were extracted in 12 Stargardt macular dystrophy, 12 retinitis pigmentosa (tunnel vision stage), and 14 normally sighted subjects. Read More

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http://dx.doi.org/10.1007/s00429-018-1700-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132657PMC
June 2018
5 Reads