Kirk A J Stephenson, Katherine E Paton, Cheryl Y Gregory-Evans, Kevin Gregory-Evans
INTRODUCTION: In addition to sensorineural hearing loss, Waardenburg Syndrome (WS) may present with variable pigmentation of skin and choroid, which may simulate other life-threating conditions (e.g. melanoma). CASE REPORT: Two siblings ostensibly presented with unilateral choroidal pigmentary abnormalities concerning for choroidal tumour. Serial ophthalmic examination documented no lesion growth (base or height) whilst the apparent syndromic features (i.e. iris hypochromia, profound sensorineural hearing loss, SNHL), family history (autosomal dominant inheritance) and positive genetic testing (pathogenic MITF variant) led to a revised diagnosis of Waardenburg Syndrome type 2A...
June 10, 2024: Ophthalmic Genetics
Steven Bonneau, Merve Kulbay, Shigufa Kahn-Ali, Cynthia X Qian
INTRODUCTION: Choroideremia (CHM) is an X-linked inherited retinal disease mostly affecting males. However, women with phenotypic and/or genotypic evidence of CHM may develop degenerative visual disability with advancing age. Our objective was to determine the visual impacts of phenotypic and/or genotypic evidence of CHM in women and its associated psychosocial burden and influence on activities of daily living (ADLs). METHODS: We conducted an international cross-sectional survey from April to December 2022 using an e-questionnaire distributed through not-for-profit stakeholder organizations and social media plat-forms...
June 7, 2024: Ophthalmic Genetics
Lauren Hucko, Natasha F S da Cruz, Patrick Staropoli, Audina M Berrocal
INTRODUCTION: Familial Exudative Vitreoretinopathy (FEVR) is a heritable retinal vascular disease characterized by incomplete vascularization of the peripheral retina resulting in ischemia. Fifty percent of FEVR cases 10 are due to known pathogenic genetic variants, and disease phenotype can vary greatly. FEVR is a clinical diagnosis, however, genetic testing can play a key role in screening for FEVR in genetically susceptible populations, thus leading to early treatment and improved patient outcomes...
June 5, 2024: Ophthalmic Genetics
Fulya Yaylacioglu Tuncay, Eda Karaismailoglu, Şengül Özdek
BACKGROUND: The clinical approach to inherited eye diseases has evolved due to advances in genetic testing methods and treatment opportunities. However, no data are available on the current practices of ophthalmologists in countries, such as Turkey, with higher rates of consanguinity and inherited eye diseases. The aim of this study was to evaluate the current practices, knowledge, and needs of ophthalmologists in Turkey regarding inherited eye diseases. METHODS: A 29-item self-administered survey with a branching algorithm was developed through Google Forms...
June 4, 2024: Ophthalmic Genetics
Aashish Batheja, Julie Bayer-Vile, Evan Silverstein, Natario Couser
INTRODUCTION: Congenital Myasthenic Syndromes are a diverse group of conditions with a broad array of genetic underpinnings and phenotypic presentations. Acetylcholine receptor deficiency is one form that usually involves pathogenic variants in the Cholinergic Receptor Nicotinic Epsilon Subunit ( CHRNE ) gene encoding the ɛ-subunit of the acetylcholine receptor. METHODS: We report a case of a 4-year-old male with suspected Congenital Myasthenic Syndrome with Acetylcholine Receptor Deficiency who presented with ocular symptoms and generalized muscle weakness...
June 4, 2024: Ophthalmic Genetics
Noor Ghali, Arif O Khan
PURPOSE: Occult macular dystrophy (OMD) is a cause of visual loss in young adults with a grossly normal fundus appearance. It is considered an autosomal dominant disorder, related to heterozygous pathogenic variants in the gene RP1L1 . The purpose of this study is to report a biallelic form of the disease. RESULTS: A 29-year-old female had undergone neurological workup and ophthalmic examinations for transient visual loss in her left eye over the past two years but there was no definitive diagnosis...
June 4, 2024: Ophthalmic Genetics
Rola Ba-Abbad
No abstract text is available yet for this article.
May 20, 2024: Ophthalmic Genetics
Manikanta Damagatla, Anshuman Verma, Venkatesh Pochaboina, Manju Bhate, Sirisha Senthil
BACKGROUND: GAPO syndrome is a rare autosomal recessive disorder characterized by the acronym of growth retardation, alopecia, pseudo-anodontia and progressive optic atrophy. While the genetic alteration of the ANTXR1 gene has been known for its cause, the full range of its clinical and genetic manifestations is not well explored due to the syndrome's extreme rarity. MATERIALS/METHODS: We report two children born to a non-consanguineous parent in India with classical features of GAPO syndrome...
May 1, 2024: Ophthalmic Genetics
Jessica S Karuntu, Femke C C Klouwer, Marc Engelen, Camiel J F Boon
PURPOSE: This cross-sectional study describes the ophthalmological and general phenotype of 10 patients from six different families with a comparatively mild form of Zellweger spectrum disorder (ZSD), a rare peroxisomal disorder. METHODS: Ophthalmological assessment included best-corrected visual acuity (BCVA), perimetry, microperimetry, ophthalmoscopy, fundus photography, spectral-domain optical coherence tomography (SD-OCT), and fundus autofluorescence (FAF) imaging...
April 25, 2024: Ophthalmic Genetics
Aran Koye, Mattias Nilsson, David Epstein, Mikael Oscarson, Kristina Teär Fahnehjelm
BACKGROUND: Homocystinuria (HCU) is a rare metabolic disease that affects many organs, including the eyes. Aims: to assess visual functions, ocular characteristics, visual quality of life and time from the onset of ocular manifestations to HCU-diagnosis in patients with HCU. MATERIAL AND METHODS: Eighteen patients underwent ophthalmological examinations and visual quality of life questionnaires. RESULTS: Best corrected decimal visual acuity was median 1...
April 17, 2024: Ophthalmic Genetics
Ayna Sariyeva Ismayilov, Okan Akaci
PURPOSE: To evaluate the corneal endothelial cell morphology in children with autosomal recessive Alport syndrome (ARAS). METHODS: This is a longitudinal, prospective cohort study that evaluated pediatric patients with genetically diagnosed ARAS. Fifty-eight eyes of 29 pediatric patients (12 patients, 17 controls) underwent a full ophthalmic examination. Corneal endothelial cell density (ECD) (cells/mm²), coefficient variation (CV) of cell area (polymegathism), the percentage of hexagonal cells (HEX) (pleomorphism), and central corneal thickness (CCT) were analyzed automatically using a noncontact specular microscopy...
April 15, 2024: Ophthalmic Genetics
Tariq A Alzahem, Abdulwahab AlTheeb, Rola Ba-Abbad
PURPOSE: This study describes how the diagnosis of Usher syndrome was revised to PRPS1-associated retinopathy and Charcot-Marie-Tooth disease type 5. CASE REPORT: A 38-year-old female with bilaterally subnormal vision and non-congenital hearing loss was initially diagnosed with Usher syndrome, based on finding variants in three genes (MYO7A, USH2A, and PCDH15), was re-evaluated at the inherited retinal disorders clinic. She had asymmetric retinopathy and right macular pseudocoloboma...
April 15, 2024: Ophthalmic Genetics
Ahmadreza Golshan-Tafti, Mohammad Bahrami, Reyhaneh Mohsenzadeh-Yazdi, Seyed Alireza Dastgheib, Maryam Aghasipour, Amirmasoud Shiri, Kamran Alijanpour, Fatemeh Asadian, Kazem Aghili, Mohammad Manzourolhojeh, Hossein Neamatzadeh
BACKGROUND: The study aimed to investigate the association of IL-6 and IL-10 polymorphisms with susceptibility to glaucoma by analyzing all relevant individual studies. MATERIALS AND METHODS: Relevant articles were gathered from PubMed, Web of Science, Embase, WanFang, and CNKI databases up to 15 October 2023. Odds ratios (ORs) were used to evaluate the association strengths, along with 95% confidence intervals (CIs). RESULTS: Seven case-control studies involving 1408 cases and 1789 controls on the IL-6 -174 G>C polymorphism, and three studies with 675 cases and 1100 controls on the IL-6 -572 G>C were included...
April 11, 2024: Ophthalmic Genetics
Elisa Marziali, Samuela Landini, Erika Fiorentini, Camilla Rocca, Lucia Tiberi, Rosangela Artuso, Laila Zaroili, Elia Dirupo, Pina Fortunato, Sara Bargiacchi, Roberto Caputo, Giacomo Maria Bacci
INTRODUCTION: BRPF1 gene on 3p26-p25 encodes a protein involved in epigenetic regulation, through interaction with histone H3 lysine acetyltransferases KAT6A and KAT6B of the MYST family. Heterozygous pathogenic variants in BRPF1 gene are associated with Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP), characterized by global developmental delay, intellectual disability, language delay, and dysmorphic facial features. The reported ocular involvement includes strabismus, amblyopia, and refraction errors...
April 8, 2024: Ophthalmic Genetics
Nan Zhou, Mingyan He, Guangkai Zhou, Qiuyang Fan, Yanhua Qi
BACKGROUND: Congenital cataract is a common cause of blindness. Genetic factors always play important role. MATERIAL AND METHODS: This study identified a novel missense variant (c.1412C>T (p.P471L)) in the EZR gene in a four-generation Chinese family with nuclear cataract by linkage analysis and whole-exome sequencing. A knockout study in zebrafish using transcription activator-like effector nucleases was carried out to gain insight into candidate gene function...
April 2, 2024: Ophthalmic Genetics
Rebeca A S Amaral, Olivia A Zin, Remo T Moraes, Fernanda B O Porto, Pedro C Carricondo, Sergio L G Pimentel, Bernardo P Kestelman, Sung E S Watanabe, Juliana M F Sallum
BACKGROUND: To describe the phenotype and genotype of 10 Brazilian patients with variants in MFRP , posterior microphthalmos and retinal findings. METHODS: Complete ophthalmological evaluation was done at 4 different Brazilian centers. Genetic analysis was performed using commercial next generation sequencing panels for inherited retinal disorders. RESULTS: Ages of the patients ranged from 10 to 65 years and visual acuities from 0,05 to no perception of light...
April 1, 2024: Ophthalmic Genetics
Banu Bozkurt, Ozkan Bağcı, Sema Üzüm, Tülin Çora
BACKGROUND: Juvenile-onset open-angle glaucoma (JOAG) is a rare form of primary open-angle glaucoma (POAG) with an early age of onset before 40 years. Latent transforming growth factor-beta binding protein 2 (LTBP-2) is an extracellular matrix protein with a multi-domain structure and homology to fibrillins. LTBP2 gene variants have been associated with JOAG in a small number of patients. Herein, we report a novel missense variant in the LTBP2 gene in a Turkish family with JOAG...
April 1, 2024: Ophthalmic Genetics
Danjie Jiang, Shujuan Lin, Qinghai Gong, Jia Hong, Jinghui Wang, Hua Gao, Yanbo Guo, Feng Tong, Yan Zhang
PURPOSE: A large number of epidemiological studies have shown that myopia is a complex disease involving genetic, environmental, and behavioral factors. The purpose of this study was to explore the role of PAX6 gene methylation in myopia in Chinese adolescents. METHODS: Eighty junior high school students were divided into four groups based on their vision test results: mild myopia, moderate myopia, severe myopia, and non-myopia control. The methylation level of PAX6 gene promoter was detected by bisulfate pyrosequencing...
March 26, 2024: Ophthalmic Genetics
Efe Sezgin, Michael F Schneider, Peter W Hunt, Gabriele Beck-Engeser, Gabriele C Ambayac, Douglas A Jabs
INTRODUCTION: Patients with the acquired immunodeficiency syndrome (AIDS) have an increased prevalence and incidence of intermediate-stage age-related macular degeneration (AMD). Several elevated plasma inflammatory biomarkers are associated with increased incidence of intermediate-stage AMD in this population. We evaluated the association between AMD risk alleles and plasma inflammatory biomarker levels in persons with AIDS. MATERIALS AND METHODS: Cryopreserved plasma specimens of 229 non-Hispanic White and 252 non-Hispanic blacks from the Longitudinal Study of the Ocular Complications of AIDS cohort were assayed for plasma levels of soluble tumor necrosis factor receptor (sTNFR) 2, interleukin (IL)-18, C × 3motif chemokine ligand 1 (CX3CL1), C-reactive protein (CRP), and soluble CD14 (sCD14)...
March 25, 2024: Ophthalmic Genetics
Diego Ruiz-Chavolla, Tania Barragán-Arévalo, Daniel Cortes-Muñoz, Jhoana Sánchez-Ruiz, Juan Carlos Zenteno, Gerardo Ledesma-Gil
INTRODUCTION: Alagille syndrome (AGS) is a genetic disease with multisystemic affection, including ocular manifestations. Recently, a high frequency of posterior segment findings, including macular changes, has been reported. This publication aims to report an unusual finding of macular atrophy and a focal choroidal excavation in a patient with JAG1 related AGS. METHODS: Case report. RESULTS: This publication describes an atypical presentation of focal choroidal excavation (FCE) and unilateral macular atrophy in a 7-year-old male with Alagille syndrome (AGS)...
March 25, 2024: Ophthalmic Genetics
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