-
A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome Ophthalmic Genet. (IF 1.308) Pub Date : 2020-11-29 Sirisha Senthil; Sarmeela Sharma; Sushma Vishwakarma; Inderjeet Kaur
ABSTRACT Background Traboulsi syndrome is a rare autosomal recessive genetic disorder. The present study aimed to identify the pathogenic variants in the ASPH gene responsible for a rare and unique presentation of Traboulsi syndrome associated with cardiac disorder. Methodology DNA was isolated from the blood samples from 3 clinically diagnosed Traboulsi syndrome patients (n = 3) after obtaining a
-
OPA1 haploinsufficiency due to a novel splicing variant resulting in mitochondrial dysfunction without mitochondrial DNA depletion Ophthalmic Genet. (IF 1.308) Pub Date : 2020-11-29 Chuanbin Sun; Xiaoyu Wu; Hai-Xia Bai; Chenghui Wang; Zhe Liu; Chenxi Yang; Yijun Lu; Pingping Jiang
ABSTRACT Background: To identify and investigate the effects of a novel splicing variant, c.1444–2A>C of OPA1, on its transcript, translation, and mitochondrial function, which was found in an 8-year-old patient with dominantly inherited optic atrophy (DOA). Materials and Methods: The clinical evaluations were performed at the Eye Center. Lymphoblast cell lines were generated from the patient, mother
-
“Association of APOE gene polymorphisms with primary open angle glaucoma in Brazilian patients” Ophthalmic Genet. (IF 1.308) Pub Date : 2020-12-07 Marcelo Luís Occhiutto; Mônica Barbosa de Melo; José Paulo Cabral de Vasconcellos; Thiago Adalton Rosa Rodrigues; Flávia Fialho Bajano; Fernando Ferreira Costa; Vital Paulino Costa
ABSTRACT Background: Primary open-angle glaucoma (POAG) is a multifactorial disease that affects 65.5 million people worldwide. In addition to the genetic variants already established as indicators of greater risk for POAG, the apolipoprotein (APOE) gene has been studied in some populations, with controversial results. The aim of this study is to investigate the frequency of the genetic variants of
-
Mosaic cat eye syndrome in a child with unilateral iris coloboma Ophthalmic Genet. (IF 1.308) Pub Date : 2020-12-01 Cristina Hernández-Medrano; Alberto Hidalgo-Bravo; Cristina Villanueva-Mendoza; Teresa Bautista-Tirado; David Apam-Garduño
ABSTRACT Background Cat eye syndrome (CES) is a rare chromosomal disorder with a known incidence of 1 per 50,000–150,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients. In addition, other ocular malformations and systemic defects can be present. The aim of this report is to present a patient with unilateral iris
-
Poretti-Boltshauser syndrome: a rare differential diagnosis to consider in pediatric high myopia with retinal degeneration Ophthalmic Genet. (IF 1.308) Pub Date : 2020-11-29 Adel Salah Alahmadi; Abdulrahman H. Badawi; Moustafa S. Magliyah; Amani Albakri; Patrik Schatz
(2021). Poretti-Boltshauser syndrome: a rare differential diagnosis to consider in pediatric high myopia with retinal degeneration. Ophthalmic Genetics: Vol. 42, No. 1, pp. 96-98.
-
Response to Finsterer’s “Exclude hereditary and acquired differential disorders before attributing retinoschisis to Kears-Sayre syndrome” Ophthalmic Genet. (IF 1.308) Pub Date : 2020-11-24 Julia Chertkof; Robert B. Hufnagel; Delphine Blain; Andrea L. Gropman; Brian P. Brooks
(2021). Response to Finsterer’s “Exclude hereditary and acquired differential disorders before attributing retinoschisis to Kears-Sayre syndrome”. Ophthalmic Genetics: Vol. 42, No. 1, pp. 100-100.
-
Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene Ophthalmic Genet. (IF 1.308) Pub Date : 2021-01-19 Sagnik Sen; Saraswathi Karuvel Kannan; Ulaganathan Shanmugam; Renu Rajan; Naresh Babu; Ayyasamy Vanniarajan
ABSTRACT Background: Gyrate Atrophy (GA) is a rare autosomal recessive disorder characterized by progressive chorioretinal degeneration. It is caused due to mutations in OAT gene that encodes a defective ornithine-δ-aminotransferase enzyme. We aim to identify the molecular cause of the disease and correlate it with the phenotype. Materials and Methods: Clinical, biochemical and genetic analyses were
-
Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa Ophthalmic Genet. (IF 1.308) Pub Date : 2021-01-13 Moustafa Magliyah; Abdulaziz A. Alshamrani; Patrik Schatz; Ibrahim Taskintuna; Yahya Alzahrani; Sawsan R. Nowilaty
ABSTRACT Background: Coats-like retinal vasculopathy in retinitis pigmentosa (RP) is rare. This study describes its clinical spectrum, management outcomes and genetic associations in patients with autosomal recessive RP (arRP). Materials and methods: Retrospective review of ophthalmic, multimodal imaging, genetic findings and treatment outcomes of arRP patients who developed Coats-like features. Identification
-
The evolving role of genetics in ophthalmology Ophthalmic Genet. (IF 1.308) Pub Date : 2021-01-12 Natario L. Couser; Brian P. Brooks; Arlene V. Drack; Suma P. Shankar
ABSTRACT Advances in molecular genetics over the past three decades have helped identify a substantial number of genetic variants causing inherited eye diseases that can be identified rapidly by appropriate genetic tests in a clinically useful window. With this progression of knowledge, the roles of genetics and ophthalmology in patient care have become increasingly intertwined, and the necessity for
-
Novel homozygous mutation of plasminogen in ligneous conjunctivitis: a case report and literature review Ophthalmic Genet. (IF 1.308) Pub Date : 2021-01-11 Liyan Xu; Yajie Sun; Kaili Yang; Dongqing Zhao; Yiqiang Wang; Shengwei Ren
ABSTRACT Background:Ligneous conjunctivitis (LC) is a rare disease characterized by the development of a wood-like pseudomembrane on the tarsal conjunctiva secondary to type I plasminogen deficiency. Here we reported on a Chinese patient with LC in a consanguineous family and performed a literature review of all reported mutations for this disease. Methods: A 13-month-old girl diagnosed with LC and
-
Clinical trial design for neuroprotection in RHO autosomal dominant retinitis pigmentosa; outcome measure considerations Ophthalmic Genet. (IF 1.308) Pub Date : 2021-01-06 Benjamin Otte; Chris Andrews; Gabrielle Lacy; Kari Branham; David C. Musch; Kanishka T. Jayasundera
ABSTRACT Purpose: To identify structural and functional outcome measures among patients with Rho-positive autosomal dominant Retinitis Pigmentosa (adRP) to aid neuroprotection trial design. Methods: This was a retrospective cohort study of 52 patients with Rho-positive adRP. We measured Goldmann Visual Fields (GVF) constriction in four sectors (nasal, temporal, inferior, superior), and sectoral Ellipsoid
-
Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome Ophthalmic Genet. (IF 1.308) Pub Date : 2021-01-03 Daphna Prat; William R. Katowitz; Alanna Strong; James A. Katowitz
ABSTRACT Background: Koolen-de Vries syndrome (KdVS) (OMIM #610443) or 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by developmental and speech delay, intellectual disability, epilepsy, hypotonia, characteristic facial features, and congenital malformations of multiple organs. The purpose of the current study was to describe ocular manifestations and surgical interventions
-
Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome Ophthalmic Genet. (IF 1.308) Pub Date : 2021-01-03 Francesco Romano; Astrit Dautaj; Raffaele Antonio Esposito; Matteo Bertelli; Giovanni Staurenghi; Anna Paola Salvetti
ABSTRACT Background: Syndromic ciliopathies have been variably linked to different retinal dystrophies. However, to date, few reports have characterized by means of multimodal imaging the retinal degeneration occurring in Mainzer-Saldino syndrome (MSS). Methods: Two siblings with history of kidney disease and other systemic abnormalities presented at our eye clinic in October 2017 complaining of night
-
Long-term follow-up of a Chinese patient with KCNV2-retinopathy Ophthalmic Genet. (IF 1.308) Pub Date : 2020-12-29 Hongxuan Lie; Gang Wang; Xiao Liu; Xiaohong Meng; Yanling Long; Jiayun Ren; Lizhu Yang; Yu Fujinami-Yokokawa; Toshihide Kurihara; Kazuo Tsubota; Kaoru Fujinami; Shiying Li
ABSTRACT Purpose: To characterize and monitor the clinical and electrophysiological features of a Chinese patient with KCNV2 retinopathy. Methods: A 17-year-old Chinese male with the diagnosis of cone dystrophy with supernormal rod response (CDSRR) was followed-up for 5 years, with full ophthalmological examinations, including decimal best corrected visual acuity (BCVA), fundus photography, fundus
-
Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene Ophthalmic Genet. (IF 1.308) Pub Date : 2020-12-27 Ulrika Kjellström; Susanne Martell; Cecilia Brobeck; Sten Andréasson
ABSTRACT Background: Stickler syndrome is a hereditary disorder of collagen tissues causing ocular, auditory, orofacial, and joint manifestations. Ocular findings typically include vitreous degeneration, high myopia, retinal detachment, and cataract. Many subjects demonstrate sensorineural or conductive hearing loss. The inheritance is autosomal dominant with mutations in COL2A1, COL11A1, or COL11A2
-
Ocular manifestations in kabuki syndrome: A report of 10 cases and literature review Ophthalmic Genet. (IF 1.308) Pub Date : 2020-12-18 Chong Kun Cheon; Hee Young Choi; Su Hwan Park; Jae Ho Jung; Su Jin Kim
ABSTRACT Background: We investigated the ocular manifestations in patients with Kabuki syndrome(KS). Methods: A retrospective chart review was performed in 10 patients with KS were referred to the Department of Ophthalmology for evaluation of ocular manifestations. Data were collected from patient interviews, clinical examinations, and laboratory investigations. Ophthalmologic examinations included
-
Living with Stargardt disease: insights from patients and their parents Ophthalmic Genet. (IF 1.308) Pub Date : 2020-12-11 Aude Roborel de Climens; Béatrice Tugaut; Carla Dias Barbosa; Ronald Buggage; Catherine Brun-Strang
ABSTRACT Background: Stargardt disease (STGD), a rare, inherited macular degeneration most commonly affecting children and young adults, is a rapidly progressive disease leading to severe central vision loss. This research aimed to develop a conceptual disease model describing STGD symptoms and their impact on patients’ lives. Material and Methods: Qualitative interviews were conducted with patients
-
Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR) Ophthalmic Genet. (IF 1.308) Pub Date : 2020-12-10 William Carrera; Caleb Ng; Caroline Desler; J. Michael Jumper; Anita Agarwal
ABSTRACT Purpose: To report novel mutations in the FZD4 and LRP5 genes, associated with familial exudative vitreoretinopathy (FEVR), and to correlate with clinical features of 7 FEVR patients. Methods: In this retrospective case series, 7 patients who had undergone genetic panel testing and carried a diagnosis of FEVR were identified. Comprehensive ophthalmic examination and direct DNA sequencing of
-
A rare case of an isolated PAX6 mutation, aniridia, and Wilms tumor Ophthalmic Genet. (IF 1.308) Pub Date : 2020-12-10 Katherine T. Lind; Nicholas G. Cost; Kelsey Zegar; Susan A. Kuldanek; Robert W. Enzenauer; Kami W. Schneider
ABSTRACT Introduction: Wilms tumor (WT) is the most common renal malignancy of children and can be seen in WAGR syndrome (WT, aniridia, genitourinary anomalies, and intellectual disability). WAGR results from a contiguous gene deletion within the 11p13 region, encompassing the WT1 gene, often responsible for WT development, and the PAX6 gene, responsible for aniridia. Aniridia, a pan-ocular disease
-
“Association of APOE gene polymorphisms with primary open angle glaucoma in Brazilian patients” Ophthalmic Genet. (IF 1.308) Pub Date : 2020-12-07 Marcelo Luís Occhiutto; Mônica Barbosa de Melo; José Paulo Cabral de Vasconcellos; Thiago Adalton Rosa Rodrigues; Flávia Fialho Bajano; Fernando Ferreira Costa; Vital Paulino Costa
ABSTRACT Background: Primary open-angle glaucoma (POAG) is a multifactorial disease that affects 65.5 million people worldwide. In addition to the genetic variants already established as indicators of greater risk for POAG, the apolipoprotein (APOE) gene has been studied in some populations, with controversial results. The aim of this study is to investigate the frequency of the genetic variants of
-
A new heterozygous mutation in the stop codon of CRYAB (p.X176Y) is liable for congenital posterior pole cataract in a Chinese family. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-12-04 Yinhui Yu; Jingjie Xu; Yue Qiao; Jinyu Li; Ke Yao
ABSTRACT Background: The present study aims to identify the underlying genetic defects in a Chinese family with autosomal dominant congenital cataracts (ADCC). Methods: Detailed family histories and clinical data were recorded. Targeted exome sequencing of 54 known cataract-associated genes combined with high-throughput next-generation sequencing was conducted followed by Sanger sequencing and bioinformatic
-
KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3 Ophthalmic Genet. (IF 1.308) Pub Date : 2020-11-29 Christiane Al-Haddad; Rose-Mary Boustany; Elza Rachid; Karine Ismail; Brenda Barry; Wai-Man Chan; Elizabeth Engle
ABSTRACT Background: Congenital fibrosis of the extraocular muscles (CFEOM) is characterized by ptosis and non-progressive restrictive ophthalmoplegia. CFEOM1 is a stereotypical phenotype with isolated bilateral ptosis, bilateral ophthalmoplegia, absent upgaze, and globe infraduction. CFEOM3 is a more variable phenotype that can include unilateral disease, absent ptosis, residual upgaze, and/or orthotropia
-
Ultrastructural and immunofluorescence analysis of anterior lens capsules in autosomal recessive Alport syndrome Ophthalmic Genet. (IF 1.308) Pub Date : 2020-11-29 Jiayue Zhou; Jing Wu; Qichuan Yin; Xiaoning Yu; Yilei Cui; Hao Yang; Xingchao Shentu
ABSTRACT Background: To first report and study the ultrastructural and immunofluorescence abnormalities of the lens anterior capsules in a patient with autosomal recessive Alport syndrome. Methods: Two anterior lens capsules were collected in femtosecond laser-assisted cataract surgeries from a 29-year-old male patient with bilateral lenticonus caused by autosomal recessive Alport syndrome. The left
-
A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female Ophthalmic Genet. (IF 1.308) Pub Date : 2020-11-26 Moustafa Magliyah; Abrar K. Alsalamah; Majeedah AlOtaibi; Sawsan R. Nowilaty
ABSTRACT Background: Gyrate atrophy of the choroid and retina (GA) is a rare autosomal recessive disorder characterized by nyctalopia, myopia, sharply demarcated expanding peripheral chorioretinal atrophic lesions, early cataract, progressive visual loss and hyperornithinemia. Only three cases of GA associated with rhegmatogenous retinal detachments (RRD) have been reported. The genotype-phenotype
-
Long-term follow-up of adult patient with neurofibromatosis type 1 with retinal astrocytic hamartoma using spectral-domain optical coherence tomography: a review of the literature and a report of a case Ophthalmic Genet. (IF 1.308) Pub Date : 2020-11-17 Solmaz Abdolrahimzadeh; Martina Formisano; Luca Scuderi; Siavash Rahimi
ABSTRACT Background: Retinal astrocytic hamartoma (RAH) is a tumor that can be sporadic or in the context of tuberous sclerosis complex (TSC) and has been reported to be associated with neurofibromatosis type 1 (NF1) in a few cases. Patient and methods: A 65-year-old male patient with NF1 was referred for ophthalmological evaluation. Comprehensive examination, near-infrared reflectance (NIR), spectral-domain
-
Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-09-17 Abhimanyu S Ahuja,Pavalan Selvam,Charitha Vadlamudi,Hayley Chopra,John E Richter,Sarah K Macklin,Ayesha Samreen,Haytham Helmi,Ahmed N Mohammaad,Stephanie Hines,Maria C Davila,Paldeep S Atwal,Thomas R Caulfield
ABSTRACT Background Autosomal Dominant Optic Atrophy (ADOA) is caused by mutations in the Optic Atrophy 1 Gene which disrupts the OPA1 protein. This disruption affects the normal function of the protein; impairs fusion of the mitochondrial inner membrane; and prevents normal OPA1 protein degradation. These events cause damage in retinal ganglion cells that could affect the patients with symptoms ranging
-
Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-09-17 Cemal Çavdarli,Büşranur Çavdarlı,Mehmet Numan Alp
ABSTRACT Objective: To determine the clinical relevance and frequency of BEST1 and PRPH2 mutations in a clinically diagnosed adult-onset vitelliform macular dystrophy (AVMD) group with Caucasian ethnicity. Methods: The study comprised 24 patients who had been diagnosed with AVMD via indirect fundus ophthalmoscopy and presented with a dome-shaped appearance between the retinal pigment epithelium and
-
A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered region. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-09-17 Miki Hiraoka,Aki Ishikawa,Fumiko Matsuzawa,Sei-Ichi Aikawa,Akihiro Sakurai
ABSTRACT Significance The responsible genetic variants for occult macular dystrophy (OMD) were found at the predicted intrinsically disordered region (IDR) of the RP1L1 gene. Purpose We examined the phenotypes and genotypes of family members from OMD. In addition, the genetic characteristics of the RP1L1 gene in OMD were investigated. Methods Whole-exome sequencing was applied on two affected family
-
Cataract in You-Hoover-Fong syndrome: TELO2 deficiency. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-09-17 Cristina Del-Prado-Sánchez,Judith Armstrong-Moron,Carla Veiga,Stefano Grixolli-Mazzon,Àngels García-Cazorla,Natalia Juliá-Palacios,Marta Morales-Ballús
ABSTRACT Introduction Recently, You, Hoover-Fong, and colleagues described a disease caused by a deficiency of the telomere maintenance 2 gene (TELO2) function. The clinical spectrum includes early-onset global delay, dysmorphic facial features, auditory disorder, and reduced vision. Materials and methods We report two siblings, diagnosed with You-Hoover-Fong syndrome at the age of 28 and 14 months
-
Association of VEGFA, TIMP-3, and IL-6 gene polymorphisms with predisposition to optic neuritis and optic neuritis with multiple sclerosis Ophthalmic Genet. (IF 1.308) Pub Date : 2020-10-30 Vaida Punyte; Alvita Vilkeviciute; Greta Gedvilaite; Loresa Kriauciuniene; Rasa Liutkeviciene
ABSTRACT Background The etiology of the inflammatory ON is multifactorial. Much attention is paid to the inflammatory and immune processes that are likely to contribute to the demyelination and MS development. IL-6, VEGFA, and TIMP-3 genes are thought to be involved in the inflammatory processes and manifestation of CNS demyelination, so we aimed to determine the relationship between VEGFA rs1413711
-
Co-occurrence of incontinentia pigmenti and down syndrome: examining patients’ potential susceptibility to autoimmune disease, autoinflammatory disease, cancer, and significant ocular disease Ophthalmic Genet. (IF 1.308) Pub Date : 2020-10-28 David C. Gibson; Natario L. Couser; Kayla B. King
(2021). Co-occurrence of incontinentia pigmenti and down syndrome: examining patients’ potential susceptibility to autoimmune disease, autoinflammatory disease, cancer, and significant ocular disease. Ophthalmic Genetics: Vol. 42, No. 1, pp. 92-95.
-
SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family Ophthalmic Genet. (IF 1.308) Pub Date : 2020-10-28 Asha Deepthi; Omar Fakhoury; Mohamad Daher; Alicia Gambarini; Stephany El-Hayek; André Megarbane
(2021). SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family. Ophthalmic Genetics: Vol. 42, No. 1, pp. 88-91.
-
Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) Ophthalmic Genet. (IF 1.308) Pub Date : 2020-10-27 Simon Dulz; Yevgeniya Atiskova; Peter Engel; Jan Wildner; Konstantinos Tsiakas; Rene Santer
ABSTRACT Introduction: LCHADD causes retinopathy associated with low vision, visual field defects, nyctalopia and myopia. We report a retrospective long-term single-center study of 6 LCHADD patients trying to clarify if early diagnosis has an impact on the course and outcome of chorioretinal degeneration. Methods: Long-term follow-up of visual acuity and staging of chorioretinal degeneration by fundus
-
Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1 Ophthalmic Genet. (IF 1.308) Pub Date : 2020-10-14 Bojana Radojevic; Kaylie Jones; Martin Klein; Margarita Mauro-Herrera; Ronald Kingsley; David G. Birch; Lea D. Bennett
ABSTRACT Purpose In a cohort of eight families (11 patients) with autosomal recessive retinitis pigmentosa (arRP), we clinically characterized disease associated with mutations in CNGB1. Methods Visual function was determined by measuring the patients’ visual acuity, dark- and light-adapted perimetry, and by full-field electroretinography. Retinal structure was evaluated with spectral-domain optical
-
Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family Ophthalmic Genet. (IF 1.308) Pub Date : 2020-10-13 Juanita Pappalardo; Rachael C. Heath Jeffery; Jennifer A. Thompson; Jason Charng; Enid S. Chelva; Ian J. Constable; Terri L. McLaren; Tina M. Lamey; John N. De Roach; Fred K. Chen
ABSTRACT Background Heterozygous c.440 G > T mutation in the S-antigen visual arrestin (SAG) gene has been described as a cause of autosomal dominant retinitis pigmentosa (adRP) in a series of patients of Hispanic origin. This study presents the early and late clinical features and disease progression rates in an Australian family with SAG adRP. Materials and methods An observational case series of
-
Ophthalmic findings and a novel CTC1 gene mutation in coats plus syndrome: a case report Ophthalmic Genet. (IF 1.308) Pub Date : 2020-10-09 Tingyi Liang; Xiang Zhang; Yu Xu; Peiquan Zhao
ABSTRACT Background Coats plus syndrome is a rare multisystem disorder, and is also a telomere-related disorder caused by CTC1 gene mutation. We reported ophthalmic findings in a Chinese child with genetically confirmed Coats plus syndrome. Materials and Methods The comprehensive ophthalmic findings were presented, as well as treatment history and systemic manifestations. In addition, genetic testing
-
Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-09-27 Danial Roshandel,Jennifer A Thompson,Jason Charng,Dan Zhang,Enid Chelva,Sukanya Arunachalam,Mary S Attia,Tina M Lamey,Terri L McLaren,John N De Roach,David A Mackey,Steve D Wilton,Sue Fletcher,Samuel McLenachan,Fred K Chen
ABSTRACT Background Mutations in the splicing factor pre-messenger RNA processing factor 31 (PRPF31) gene cause autosomal dominant retinitis pigmentosa 11 (RP11) through a haplo-insufficiency mechanism. We describe the phenotype and progression of microperimetry and autofluorescence endpoints in an Indigenous Australian RP11 family. Patients and Methods Ophthalmic examination, optical coherence tomography
-
Exclude hereditary and acquired differential disorders before attributing retinoschisis to Kears-Sayre syndrome. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-09-25 Josef Finsterer
(2021). Exclude hereditary and acquired differential disorders before attributing retinoschisis to Kears-Sayre syndrome. Ophthalmic Genetics: Vol. 42, No. 1, pp. 99-99.
-
Severe retinal degeneration in a patient with Canavan disease. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-09-25 Matthew D Benson,David J A Plemel,Paul R Freund,James R Lewis,Jörn Oliver Sass,Luzy Bähr,Corinne Gemperle-Britschgi,Patrick Ferreira,Ian M MacDonald
ABSTRACT Background: Canavan disease is an autosomal recessive, neurodegenerative disorder caused by mutations in ASPA, a gene encoding the enzyme aspartoacylase. Patients present with macrocephaly, developmental delay, hypotonia, vision impairment and accumulation of N-acetylaspartic acid. Progressive white matter changes occur in the central nervous system. The disorder is often fatal in early childhood
-
CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-07-20 Monika K Grudzinska Pechhacker,Matteo Di Scipio,Anjali Vig,Anupreet Tumber,Nicole Roslin,Erika Tavares,Ajoy Vincent,Elise Hèon
Background S-adenosylhomocysteine hydrolase deficiency due to pathologic variants in AHCY gene is a rare neurometabolic disease for which no eye phenotype has been documented. Pathologic variants in CRB1 gene are known to cause a wide spectrum of autosomal recessive retinal diseases with Leber’s congenital amaurosis as a most common. The aim of this study is to report co-inheritance of neurometabolic
-
Hickam's Dictum: Pseudoxanthoma elasticum and Usher syndrome in a single patient. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-07-15 Kevin Wang,Brittney Statler,Michael Ramos,Meghan J DeBenedictis,Amy Babiuch,Alex Yuan,Elias I Traboulsi
Background To report the case of a patient with two distinct genetic systemic diseases – pseudoxanthoma elasticum (PXE) and Usher syndrome – confirmed by genetic testing. Materials and Methods Single Retrospective Case Report Results A 36-year-old woman presented with acute central vision loss of the left eye (OS). Fundus exam revealed choroidal neovascularization OS in the setting of angioid streaks
-
A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-07-23 Gonçalo Godinho,Carolina Madeira,Ana Grangeia,Pedro Neves-Cardoso,Renato Santos-Silva,Elisete Brandão,Ângela Carneiro,Fernando Falcão-Reis,Sérgio Estrela-Silva
Background To characterize the phenotype and genotype of a syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), foveoschisis, and foveal hypoplasia (FH) in a consanguineous Portuguese family. Materials and methods Three siblings were studied and underwent comprehensive eye examinations for best-corrected visual acuity, axial length, refractive error, B-mode ultrasound, electroretinography
-
A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-07-27 Meghan J DeBenedictis,Yosef Gindzin,Enrico Glaab,Bela Anand-Apte
Background Sorsby Fundus Dystrophy is an inherited macular degeneration caused by pathogenic variants in the TIMP3 gene. Clinical exam findings typically drusen –like deposits beneath the RPE or reticular pseudo drusen deposits above the RPE with a majority of patients developing choroidal neovascularization. Materials and Methods Case report of two members of a family that present with atypical clinical
-
Heterozygous CRX R90W mutation-associated adult-onset macular dystrophy with phenotype analogous to benign concentric annular macular dystrophy. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-07-20 Caleb C Ng,William M Carrera,H Richard McDonald,Anita Agarwal
Background Historically, CRX mutations have been associated with cone-rod dystrophy, cone dystrophy, Leber’s congenital amaurosis, and retinitis pigmentosa. There is recent emerging evidence of an adult-onset macular dystrophy phenotype. We review the published literature and discuss the first case of heterozygous CRX R90 W macular dystrophy. Materials and Methods The patient received serial ophthalmic
-
Anterior segment optical coherence tomography, in vivo confocal microscopy, histopathologic, and immunohistochemical findings in a patient with multiple endocrine neoplasia type 2b. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-07-27 Ibadulla Mirzayev,Ahmet Kaan Gündüz,Cevriye Cansiz Ersöz,Ömür Özlenen Gündüz,Zarifakhanim Gahramanli
Purpose To describe clinical, anterior segment optical coherence tomography (AS-OCT), in vivo confocal microscopy (IVCM), histopathologic, and immunohistochemical findings in a patient with multiple endocrine neoplasia type 2b (MEN 2b) syndrome Materials and methods Retrospective case report of a patient with MEN 2b. Results A 31-year-old male diagnosed with MEN 2b presented with eye redness, burning
-
Retinoschisis associated with Kearns-Sayre syndrome. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-08-13 Julia Chertkof,Robert B Hufnagel,Delphine Blain,Andrea L Gropman,Brian P Brooks
Background Kearns-Sayre Syndrome (KSS) is characterized by pigmentary retinopathy, external ophthalmoplegia and heart block. We report on a now 24-year-old male with clinical retinoschisis and molecularly confirmed KSS. Materials and Methods Physical and complete ophthalmic examination, molecular diagnosis. Results Over nine years of follow-up, the subject manifested progressive signs and symptoms
-
A novel missense mutation locus of cadherin 23 and the interaction of cadherin 23 and protocadherin 15 in a patient with usher syndrome. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-08-24 Chuanzhen Zheng,Xinjun Ren,Dongjun Xing,Shaochong Bu,Dejia Wen,Ye He,Jinping Zhang,Lijie Dong,Xiaorong Li
(2020). A novel missense mutation locus of cadherin 23 and the interaction of cadherin 23 and protocadherin 15 in a patient with usher syndrome. Ophthalmic Genetics: Vol. 41, No. 5, pp. 501-504.
-
Assessment of incorporation of the International Committee for Classification of Corneal Dystrophies (IC3D) in literature. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-08-28 Saif Aldeen AlRyalat,Bahaa Al-Din Jaber
(2020). Assessment of incorporation of the International Committee for Classification of Corneal Dystrophies (IC3D) in literature. Ophthalmic Genetics: Vol. 41, No. 5, pp. 507-509.
-
Ocular manifestations in classic homocystinuria. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-09-17 Patrícia Ioschpe Gus,Karina Carvalho Donis,Diane Marinho,Tiago Franco Martins,Carolina Fischinger Moura de Souza,Rafael Barboza Carloto,Gabriel Leivas,Ida Vanessa Doederlein Schwartz
ABSTRACT Background Classic homocystinuria (HCU), or cystathionine beta-synthase (CBS) deficiency, is a rare inborn error of methionine metabolism. Main clinical features may include skeletal and vascular manifestations, developmental delay, intellectual disability and eye disorders. Material and methods This is an observational and retrospective study aiming at describing eye abnormalities presented
-
Identification of a novel TGFBI gene mutation (p.Serine524Cystine) associated with late-onset recurrent epithelial erosions and Bowman layer opacities. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-09-03 Angela C Chen,Duangratn Niruthisard,Doug D Chung,Pichaya Chuephanich,Anthony J Aldave
ABSTRACT Background Most transforming growth factor beta-induced (TGFBI) corneal dystrophies are associated with a characteristic phenotype, clinical course, and a conserved mutation in the TGFBI gene. However, we report a novel TGFBI missense mutation associated with a late-onset, variant Bowman layer dystrophy. Methods Participants underwent slit-lamp examination and multimodal imaging. Polymerase
-
Atypical presentation of Cat Eye Syndrome in an infant with Peters anomaly and microphthalmia with cyst. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-08-31 Benjamin Katz,Jennifer Enright,Steven Couch,George Harocopos,Andrew R Lee
ABSTRACT Purpose To describe a unique ocular presentation of Cat Eye Syndrome and review the ocular and systemic findings associated with the syndrome. Methods Case report with multimodal imaging. Results A newborn female presented with a unilateral Peters anomaly with contralateral microphthalmia with cyst. The patient’s other systemic findings included a hypoplastic right heart, persistent ductus
-
CERKL mutation causing retinitis pigmentosa(RP) in Indian population - a genotype and phenotype correlation study. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-08-31 Parveen Sen,Puja Maitra,Srikrupa Natarajan,Srivatsan Sripriya,Sinnakaruppan Mathavan,Muna Bhende,Pradeep T Manchegowda
ABSTRACT Background Mutations in CERKL gene has been reported to cause Retinitis pigmentosa (RP) and clinically appears discrete from other commonly encountered phenotypes. We report 14 patients who were seen to have CERKL mutation of the 152 patients of RP from Indian population who underwent genetic testing. Materials and Methods A retrospective analysis was performed in 28 eyes of the 14 unrelated
-
Association study of toll-like receptors 4 polymorphisms and the risk of age-related macular degeneration: a meta-analysis. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-08-26 Jian-Ying Zhou,Yi-Qian Huang,Xiao-Yan Zhang,Pei-Fen Zheng,Peng Li,Yan Chen,Long Shu
ABSTRACT Background Toll-like receptor 4 (rs4986790, rs4986791) single nucleotide polymorphisms (SNPs) have been shown to be associated with age-related macular degeneration (AMD), but the results are still inconclusive. The present meta-analysis was conducted to evaluate the association between SNPs of TLR4 gene and AMD susceptibility. Methods Relevant articles were obtained through computer retrieval
-
Ocular findings of albinism in DYRK1A-related intellectual disability syndrome. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-08-24 Julia Ernst,Michelle L Alabek,Amgad Eldib,Suneeta Madan-Khetarpal,Jessica Sebastian,Aashim Bhatia,Alkiviades Liasis,Ken K Nischal
ABSTRACT Background Pathogenic variants in DYRK1A are associated with DYRK1A-related intellectual disability syndrome (DIDS). Common features of this diagnosis include microcephaly, intellectual disability, speech impairment, and distinct facial features. Reported ocular features include deep-set eyes, myopia, and strabismus. We present a case of DYRK1A-related intellectual disability syndrome with
-
Assessment of CFH and HTRA1 polymorphisms in age-related macular degeneration using classic and machine-learning approaches. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-08-24 Antonieta Martínez-Velasco,Andric C Perez-Ortiz,Bani Antonio-Aguirre,Lourdes Martínez-Villaseñor,Esmeralda Lira-Romero,Claudia Palacio-Pastrana,Juan Carlos Zenteno,Israel Ramirez,Claudia Zepeda-Palacio,Cristina Mendoza-Velásquez,Azyadeh Camacho-Ordóñez,Daniela Michelle Ortiz Bibriesca,F Javier Estrada-Mena
ABSTRACT Background CFH and HTRA1 are pivotal genes driving increased risk for age-related macular degeneration (AMD) among several populations. Here, we performed a hospital-based case-control study to evaluate the effects of three single nucleotide polymorphisms (SNPs) among Hispanics from Mexico. Materials and methods 122 cases and 249 controls were genotyped using Taqman probes. Experienced ophthalmologists
-
Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-08-24 Grecia Yael Ortiz-Ramirez,Cristina Villanueva-Mendoza,Juan Carlos Zenteno Ruiz,Mariana Reyes,Vianney Cortés-González
ABSTRACT Background Choroideremia is an X-linked chorioretinal dystrophy caused by mutations in the CHM gene. The main differential diagnosis is X-linked retinitis pigmentosa. Clinically, male patients that are affected by these two diseases have similar symptoms. This work aims to report a familial case of choroideremia initially diagnosed as X-linked retinitis pigmentosa with a novel mutation in
-
High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutation. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-08-20 Daiki Kubota,Kaori Matsumoto,Mika Hayashi,Noriko Oishi,Kiyoko Gocho,Kunihiko Yamaki,Shinichiro Kobayakawa,Tsutomu Igarashi,Hiroshi Takahashi,Shuhei Kameya
ABSTRACT Purpose The hexokinase 1 (HK1) gene encodes one of the four human hexokinases that play essential roles in glucose metabolism. Recently, several cases of E847K mutation in the HK1 gene were reported to cause inherited retinal dystrophy. The purpose of this study was to identify the phenotypical characteristics of patients with a recurrent E847K mutation in the HK1 gene. Methods Three generations
-
Genomic analysis of adult case of ocular surface giant congenital melanocytic nevus and associated clinicopathological findings. Ophthalmic Genet. (IF 1.308) Pub Date : 2020-08-20 Lindsay A McGrath,Jane M Palmer,Andrew Stark,William Glasson,Sunil K Warrier,Kevin Whitehead,Hayley Hamilton,Kelly Brooks,Peter A Johansson,Nicholas K Hayward
ABSTRACT Introduction Conjunctival nevi are the most common tumor of the ocular surface. There are some rare reports of so-called ‘giant’ conjunctival nevi. We report a case of a 47-year-old female with a cutaneous and ocular surface giant congenital melanocytic nevus and describe her clinical course. Case Description This is a retrospective case report of a single patient. A 47-year-old female with
-
Novel compound heterozygous pathogenic BBS5 variants in Filipino siblings with Bardet-Biedl syndrome (BBS). Ophthalmic Genet. (IF 1.308) Pub Date : 2020-08-19 Aramis B Torrefranca,Alvina Pauline D Santiago,Michelle D Lingao,Marie Julianne C Racoma
ABSTRACT Purpose Bardet-Biedl syndrome (BBS) is rare in the Philippines and only limited information on the prevalent subtypes is available as yet. The purpose of this study is to present the clinical characteristics of two Filipino siblings presenting with mutations in BBS5. Patients and Methods The Filipino female siblings, aged 11 and 14 years underwent comprehensive ophthalmologic evaluation. Fundus