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Eye (Lond) 2022 May 17. Epub 2022 May 17.

Department of Ophthalmology, University of Bonn, Bonn, Germany.

Background: Pigment epithelial detachments (PEDs) occur in association with various chorioretinal diseases. With respect to the broad clinical spectrum of PEDs we describe fundus autofluorescence (FAF) characteristics of PEDs.

Methods: Ninety-three eyes of 66 patients (mean age 71. Read More

Asia Pac J Ophthalmol (Phila) 2022 Mar-Apr 01;11(2):100-110

Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA, US.

Abstract: Pentosan polysulfate (PPS) sodium (Elmiron) is the only Food and Drug Administration (FDA)-approved oral medication to treat interstitial cystitis, also known as bladder pain syndrome. A symptomatic pigmentary maculopathy associated with PPS was reported in 2018. Since then, recognition of this unique drug toxicity has increased rapidly. Read More

BMC Ophthalmol 2022 May 8;22(1):209. Epub 2022 May 8.

Centre for Ophthalmology, University Eye Hospital, Eberhard Karls University Tübingen, Elfriede-Aulhorn-Str. 7, 72076, Tübingen , Germany.

Background: Macular corneal dystrophy is a rare inherited disease of the cornea leading to deposits mainly in the stroma. Affected patients suffer from progressive loss of visual acuity which should be treated with penetrating keratoplasty. This is the first case report describing the clinical and histopathological findings of corneal tissue after failed phototherapeutic keratectomy (PTK) in a patient with macular corneal dystrophy. Read More

Ophthalmol Retina 2022 May 2. Epub 2022 May 2.

Wilmer Eye Institute, Johns University School of Medicine, Baltimore, Maryland, USA. Electronic address:

Purpose: Cataract surgery is commonly performed to improve vision in patients with retinitis pigmentosa (RP). However, the risk of postoperative cystoid macular edema (CME) in RP remains unclear. Here, we leveraged a large multi-year claims database to estimate the risk of CME after cataract surgery in patients with and without RP. Read More

Am J Ophthalmol Case Rep 2022 Jun 21;26:101550. Epub 2022 Apr 21.

Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy.

Purpose: Occult Macular Dystrophy (OMD) is an autosomal dominant inherited retinal dystrophy caused by mutations in the retinitis pigmentosa 1-like 1 () gene. The present study describes a novel variant, identified for the first time in two Italian sisters diagnosed with OMD, along with multimodal imaging features, including Optical Coherence Tomography (OCT) Angiography.

Methods: We performed multimodal imaging including spectral-domain OCT, blue light autofluorescence (BAF), infrared autofluorescence (IRAF), swept-source OCT Angiography (OCTA), full-field and multifocal electroretinography. Read More

Ophthalmic Genet 2022 May 2:1-6. Epub 2022 May 2.

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

Retinol dehydrogenase 12 (RDH12) is a small gene located on chromosome 14, encoding an enzyme capable of metabolizing retinoids. It is primarily located in photoreceptor inner segments and thereby is believed to have an important role in clearing excessive retinal and other toxic aldehydes produced by light exposure. Clinical features: RDH12-associated retinopathy has wide phenotypic variability; including early-onset severe retinal dystrophy/Leber Congenital Amaurosis (EOSRD/LCA; most frequent presentation), retinitis pigmentosa, cone-rod dystrophy, and macular dystrophy. Read More

Retina 2022 Apr 22. Epub 2022 Apr 22.

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

Purpose: Swept-source optical coherence tomography angiography (SS-OCTA) was used to analyze Bruch's membrane (BM) and choriocapillaris (CC) abnormalities in undiagnosed family members with Sorsby macular dystrophy (SMD).

Methods: In a family with SMD (TIMP3 Tyr191Cys), SS-OCTA imaging was performed using the 6X6mm scan patter and previously validated algorithms to detect abnormalities in BM and the CC, as well as the presence of reticular pseudodrusen (RPD) and macular neovascularization (MNV). Genetic analyses were performed for TIMP3 mutations. Read More

Ophthalmic Genet 2022 Apr 27:1-8. Epub 2022 Apr 27.

Department of Ophthalmology and Clinical Sciences Lund, Lund University, Skane University Hospital, Lund, Sweden.

Background: Pathogenic variants in 3 have been associated with both autosomal dominant Snowflake vitreoretinal degeneration (SVD) and autosomal recessive Leber congenital amaurosis. SVD is characterized by aberrant vitreoretinal interface leading to increased risk of retinal detachment, crystalline retinal snowflake deposits, optic disc abnormalities, early-onset cataract, and cornea guttae. Reduced dark adaptation and reduced scotopic rod b-waves have also been described. Read More

Stem Cell Res 2022 Apr 22;62:102789. Epub 2022 Apr 22.

GROW Research Laboratory, Narayana Nethralaya Foundation, Bangalore, Karnataka, India.

Macular corneal dystrophy (MCD) an autosomal recessive disorder leading to severe visual impairment is caused by mutations in the carbohydrate sulfotransferase 6 (CHST6) gene. Here, we describe generation of a iPSC line from peripheral blood mononuclear cells (PBMCs) from a 38 year old MCD patient harboring a homozygous mutation, p.V172L in the CHST6 gene. Read More

Am J Ophthalmol Case Rep 2022 Jun 10;26:101527. Epub 2022 Apr 10.

Department of Ophthalmology, University of Basel, Basel, Switzerland.

Purpose: We report a first case of bilateral occult macular dystrophy (OMD) with a c.133C>T (p.Arg45Trp) pathogenic variant in the retinitis pigmentosa 1-like 1 () gene in a patient of Caucasian Swiss decent. Read More

Int J Mol Sci 2022 Apr 13;23(8). Epub 2022 Apr 13.

Univ. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, F-59000 Lille, France.

Biallelic gene defects in are not only a cause of the late-infantile form of neuronal ceroid lipofuscinosis, but also of rare isolated retinal degeneration. We report clinical and genetic data of seven patients compound heterozygous or homozygous for variants in , issued from a French cohort with inherited retinal degeneration, and two additional patients retrieved from a Swiss cohort. Next-generation sequencing of large panels combined with whole-genome sequencing allowed for the identification of twelve variants from which seven were novel. Read More

Genes (Basel) 2022 03 29;13(4). Epub 2022 Mar 29.

Department of Otorhinolaryngology-Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.

Cone photoreceptor dysfunction represents a clinically heterogenous group of disorders characterized by nystagmus, photophobia, reduced central or color vision, and macular dystrophy. Here, we described the molecular findings and clinical manifestations of achromatopsia, a partial or total absence of color vision, co-segregating with three known missense variants of in three large consanguineous Pakistani families. Fundus examination and optical coherence tomography (OCT) imaging revealed myopia, thin retina, retinal pigment epithelial cells loss at fovea/perifovea, and macular atrophy. Read More

Clin Ophthalmol 2022 13;16:1127-1138. Epub 2022 Apr 13.

Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.

Background: To assess the prevalence of genetic testing for inherited retinal diseases (IRDs) in a tertiary practice setting.

Methods: Single-centre retrospective analysis of patients with diagnosed or suspected IRD.

Results: Four hundred and sixty-four patient records were analysed. Read More

Ocul Immunol Inflamm 2022 Apr 11:1-4. Epub 2022 Apr 11.

Department of Ophthalmology, University Hospital of Wales, Cardiff, UK.

Purpose: Multiple cases of corneal graft rejection after various vaccinations have been reported over the past decades. Here we described a case of bilateral cystoid macular edema (CME) and endothelial rejection in a DSAEK patient following influenza and varicella vaccines.

Case Report: A 72-year-old woman with bilateral Fuch's endothelial dystrophy received bilateral DSAEK surgeries. Read More

BMJ Open 2022 Apr 8;12(4):e054111. Epub 2022 Apr 8.

Department of Molecular Biology and Human Genetics, Tzu Chi University, Hualien, Taiwan

Objective: To investigate the prevalence, incidence and relating factors that are associated with hereditary retinal dystrophy (HRD) in Taiwan from 2000 to 2013.

Design, Setting And Participants: This is a nationwide, population-based, retrospective case-control study using National Health Insurance Database. Study groups are patients with HRD as case group; age-matched patients without any diagnosis of HRD as control group. Read More

Saudi J Ophthalmol 2021 Apr-Jun;35(2):159-163. Epub 2022 Feb 18.

Vitreoretinal Unit, Dhahran Eye Specialist Hospital, Dhahran, Saudi Arabia.

To report an adult with autosomal recessive Best vitelliform macular dystrophy with a new homozygous BEST1 mutation, the management of a cystoid macular edema with intravitreal aflibercept in the proband, and the findings in the parents, carriers of heterozygous BEST1 mutations. A 28-year-old female presented with blurry andreduced vision in her both eyes with bilateral vitelliform macular lesions. The patient's parents were also examined. Read More

Zhonghua Yan Ke Za Zhi 2022 Apr;58(4):293-297

The Ophthalmology Division of Chinese PLA General Hospital, Beijing 100853, China.

A patient with chief complaint of bilateral progressive visual impairment was diagnosed with Fuchs corneal dystrophy (FECD) in both eyes, macular hole in the left eye, and intraocular lens eye in the right eye. After communication with the patient and his family, they agreed to receive Descemet's stripping without endothelial keratoplasty (DWEK) in the left eye. One year after the operation, the cornea of the left eye was transparent, and the central posterior elastic layer was missing about 4. Read More

Front Pharmacol 2022 21;13:839424. Epub 2022 Mar 21.

Hamilton Eye Institute, Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, TN, United States.

Collectively, retinal neurodegenerative diseases are comprised of numerous subtypes of disorders which result in loss of a varying cell types in the retina. These diseases can range from glaucoma, which results in retinal ganglion cell death, to age-related macular degeneration and retinitis pigmentosa, which result in cell death of the retinal pigment epithelium, photoreceptors, or both. Regardless of the disease, it's been recently found that increased release of proinflammatory cytokines and proliferation of active microglia result in a remarkably proinflammatory microenvironment that assists in the pathogenesis of the disease; however, many of the details of these inflammatory events have yet to be elucidated. Read More

Genet Med 2022 Mar 21. Epub 2022 Mar 21.

Eye Hospital and School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China. Electronic address:

Purpose: Macular degeneration is the leading cause of blindness worldwide. In this study, we aimed to define a new subtype of macular-retinal dystrophy and its genetic predisposition in 5 families.

Methods: Exome sequencing was performed to determine the putative disease-causing genes in patients with inherited macular disorders confirmed through comprehensive ophthalmic examinations. Read More

Int J Mol Sci 2022 Mar 8;23(6). Epub 2022 Mar 8.

Center for Medical Research, Faculty of Medicine, University Clinic for Ophthalmology and Optometry, Johannes Kepler University Linz, 4020 Linz, Austria.

Despite the progress of modern medicine in the last decades, millions of people diagnosed with retinal dystrophies (RDs), such as retinitis pigmentosa, or age-related diseases, such as age-related macular degeneration, are suffering from severe visual impairment or even legal blindness. On the one hand, the reprogramming of somatic cells into induced pluripotent stem cells (iPSCs) and the progress of three-dimensional (3D) retinal organoids (ROs) technology provide a great opportunity to study, understand, and even treat retinal diseases. On the other hand, research advances in the field of electronic retinal prosthesis using inorganic photovoltaic polymers and the emergence of organic semiconductors represent an encouraging therapeutical strategy to restore vision to patients at the late onset of the disease. Read More

Am J Ophthalmol Case Rep 2022 Jun 17;26:101490. Epub 2022 Mar 17.

Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo, 152-8902, Japan.

Purpose: To analyze the microstructures of the photoreceptor layer in detail in eyes with occult macular dystrophy (OMD, Miyake's disease) by ultrahigh-resolution spectral-domain optical coherence tomography (UHR-SD-OCT).

Observations: Twenty-eight normal subjects and 5 patients with OMD of different severities were studied. Cross-sectional images through the fovea were recorded with a UHR-SD-OCT system with a depth resolution of <2. Read More

Cell Death Dis 2022 Mar 21;13(3):255. Epub 2022 Mar 21.

Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.

Age-related macular degeneration (AMD) is the leading cause of vision loss in the elderly. Progressive dystrophy of the retinal pigment epithelium (RPE) and photoreceptors is the characteristic of dry AMD, and oxidative stress/damage plays a central role in the pathogenic lesion of the disease. Thyroid hormone (TH) regulates cell growth, differentiation, and metabolism, and regulates development/function of photoreceptors and RPE in the retina. Read More

Ophthalmol Retina 2022 Mar 18. Epub 2022 Mar 18.

Moorfields Eye Hospital National Health Service Foundation Trust, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom.

Objective: To describe the spectrum of Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) associated with the GUCY2D gene and to identify potential end points and optimal patient selection for future therapeutic trials.

Design: International, multicenter, retrospective cohort study.

Subjects: Eighty-two patients with GUCY2D-associated LCA or CORD from 54 families. Read More

Ophthalmol Retina 2022 Mar 18. Epub 2022 Mar 18.

Department of Ophthalmology, Belfast Health & Social Care Trust, Belfast, United Kingdom.

Objective: West African crystalline maculopathy (WACM) is characterized by the presence of macular hyperrefractile crystal-like deposits. Although the underlying pathophysiology has not been elucidated, a few biologic drivers have been proposed. We analyzed a large WACM case series to gain a more robust understanding of its features and etiology. Read More

Doc Ophthalmol 2022 Mar 13. Epub 2022 Mar 13.

Department of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Tokyo, 105-8461, Japan.

Background: Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disorder that affects multiple organs, including the muscle and eye, caused by a CTG triplet expansion of the 3' untranslated region (UTR) of the DMPK gene. Cataracts and retinal degeneration are major eye complications in patients with DM1. We reported the case of a Japanese patient with DM1 who exhibited submacular hemorrhage unilaterally, rarely complicating DM1. Read More

Ophthalmic Genet 2022 Mar 10:1-8. Epub 2022 Mar 10.

Al Bahar Eye Center, Ministry of Health, Kuwait.

Purpose: To evaluate the clinical and genetic spectrum of inherited retinal diseases (IRDs) in a Kuwaiti tribe.

Methods: Forty four patients with IRDs from 28 nuclear families from the tribe, were evaluated for presenting symptoms, visual acuity, fundus examination, OCT, microperimetry, full-field (ff), and multifocal electroretinography (mERG) and genotyping.

Results: Seventeen patients were diagnosed with autosomal recessive retinitis pigmentosa (arRP) associated with c. Read More

Sci Rep 2022 03 8;12(1):3774. Epub 2022 Mar 8.

MAGI'S Lab s.r.l., Via Delle Maioliche 57/D, 38068, Rovereto, TN, Italy.

Two-hundred and thirty-four Italian patients with a clinical diagnosis of macular, cone and cone-rod dystrophies (MD, CD, and CRD) were examined using next-generation sequencing (NGS) and gene sequencing panels targeting a specific set of genes, Sanger sequencing and-when necessary-multiplex ligation-dependent probe amplification (MLPA) to diagnose the molecular cause of the aforementioned diseases. When possible, segregation analysis was performed in order to confirm unsolved cases. Each patient's retinal phenotypic characteristics were determined using focal and full-field ERGs, perimetry, spectral domain optical coherence tomography and fundus autofluorescence. Read More

Am J Ophthalmol 2022 Mar 3. Epub 2022 Mar 3.

Oregon Health & Science University, Casey Eye Institute, Portland, OR, USA. Electronic address:

Purpose: To report on the safety of the first five cohorts of a gene therapy trial using recombinant equine infectious anemia virus expressing ABCA4 (EIAV-ABCA4) in adults with Stargardt Dystrophy (SD) due to mutations in ABCA4.

Design: Nonrandomized multicenter phase I/IIa clinical trial.

Methods: Patients received a subretinal injection of EIAVABCA4 in the worse-seeing eye at three dose levels and were followed for three years after treatment. Read More

Am J Ophthalmol Case Rep 2022 Jun 20;26:101444. Epub 2022 Feb 20.

Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA, USA.

Purpose: To describe the unusual case of inflammatory CRB1-associated retinal dystrophy that initially presented with self-resolving opsoclonus.

Observations: We report the case of a now 2-year-old female who developed opsoclonus without myoclonus at the age of 4 months. An extensive workup for neuroblastoma and other systemic diseases was unremarkable, and all unusual eye movements self-resolved at age 10 months. Read More

Am J Ophthalmol Case Rep 2022 Jun 16;26:101429. Epub 2022 Feb 16.

West Coast Retina Medical Group, San Francisco, CA, USA.

Purpose: To report a case of late-onset Stargardt disease, discuss the differential diagnosis, and review the role of vitamin A supplementation in Stargardt disease.

Observations: A 60-year-old man presented with blurry vision in the right eye for the past two years. Current medications included a daily multivitamin containing vitamin A and age-related eye disease study vitamins. Read More