Search Our Scientific Publications & Authors

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 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

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 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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