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Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a reduced glaucoma risk for Turkish population: a prospective clinical analysis Ophthalmic Genet. (IF 1.2) Pub Date : 2024-03-14 Orkun Muhsinoglu, Ibrahim Akalin, Remzi Karadag, Sarenur Yilmaz, Huseyin Bayramlar, James D. Nicholson
The MEFV gene encodes pyrin, a protein linked to increased severity of symptoms in Familial Mediterranean Fever (FMF). We consider that inflammation due to MEFV variants would increase eye inflamma...
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Structural and functional characterization of an individual with the M285R KCNV2 hypomorphic allele Ophthalmic Genet. (IF 1.2) Pub Date : 2024-03-08 Thales A. C. de Guimaraes, Francesco Lai, Raffaella Colombatti, Giovanni Sato, Roberta Rizzo, Angelos Kalitzeos, Michel Michaelides
Disease-causing variants in the KCNV2 gene are associated with “cone dystrophy with supernormal rod responses,” a rare autosomal recessive retinal dystrophy. There is no previous report of hypomorp...
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Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes Ophthalmic Genet. (IF 1.2) Pub Date : 2024-03-07 Alexandra Ruiz Guijosa, Laura Fernández Morales, José María Martínez de la Casa, Julio Escribano, Julián García Feijoo
To describe the inheritance pattern and clinical variability of primary congenital glaucoma (PCG) in a family with two affected siblings.Two sisters diagnosed at birth with bilateral PCG, whose fat...
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Novel ATF6 homozygous variant in a Chinese patient with achromatopsia Ophthalmic Genet. (IF 1.2) Pub Date : 2024-02-29 Shijing Wu, Yinhui Yu, Yao Wang, Li Zhang, Xiaoyun Fang, Panpan Ye, Jian Ma
ATF6-associated Achromatopsia (ACHM) is a rare autosomal recessive disorder characterized by reduction of visual acuity, photophobia, nystagmus, and poor color vision.Detailed ophthalmological exam...
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Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy Ophthalmic Genet. (IF 1.2) Pub Date : 2024-02-29 Tugche S. Chen, Narin Sheri, David S. Ehmann, Matthew D. Benson
To report on a patient with spinocerebellar ataxia type 14 (SCA14) and macular dystrophy with identification of a novel PRPH2 variant.Case report.A 63-year-old female with molecularly confirmed SCA...
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An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population Ophthalmic Genet. (IF 1.2) Pub Date : 2024-02-27 Ebru Alp, Sibel Doguizi, Fadime Mutlu Icduygu, Egemen Akgun, Mehmet Ali Sekeroglu, Murat Atabey Ozer
Diabetic retinopathy (DR) occurs due to high blood glucose damage to the retina and leads to blindness if left untreated. KATP and related genes (KCNJ11 and ABCC8) play an important role in insulin...
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Homozygous MTHFR C667T carriers ≤45 years old develop central retinal vein occlusion five years earlier than wild type Ophthalmic Genet. (IF 1.2) Pub Date : 2024-02-23 Paul RJ Ames, Alessia Arcaro, Giovanna D’Andrea, Vincenzo Marottoli, Luigi Iannaccone, Maurizio Maraglione, Fabrizio Gentile
To assess age at 1st central retinal vein occlusion (CRVO) in carriers ≤ 45 years old of the methylenetetrahydrofolate reductase (MTHFR) C667T genotype compared to heterozygous and wild type, and t...
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ABCA4 variant screening in a Turkish cohort with Stargardt disease Ophthalmic Genet. (IF 1.2) Pub Date : 2024-02-18 Neslihan Sinim Kahraman, Büşra Özgüç Çalışkan, Nefise Kandemir, Ayşe Öner, Munis Dündar, Yusuf Özkul
This study aims to evaluate the ABCA4 variants in patients diagnosed with Stargardt disease.This is a retrospective study designed to investigate variants in the ABCA4 in Stargardt disease and the ...
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William Gregory (Bill) Pearce MD, FRCS(C) Ophthalmic Genet. (IF 1.2) Pub Date : 2024-02-14 Ian MacDonald
Published in Ophthalmic Genetics (Ahead of Print, 2024)
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RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India Ophthalmic Genet. (IF 1.2) Pub Date : 2024-02-07 Deepika C. Parameswarappa, Deepak Kumar Bagga, Abhishek Upadhyaya, Jeyapoorani Balasubramanian, Venkatesh Pochaboina, Vani Muthineni, Subhadra Jalali, Chitra Kannabiran
Mutations in the retinal pigment epithelial 65 kilodalton protein (RPE65) gene are associated with various inherited retinal diseases (IRDs), including Leber congenital amaurosis (LCA), early-onset...
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Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report Ophthalmic Genet. (IF 1.2) Pub Date : 2024-02-01 Kirstine Bolette Boysen, Zeynep Tümer, Daniella Bach-Holm, Anne-Marie Bisgaard, Line Kessel
Stickler syndrome (STL) is a collagenopathy caused by pathogenic variants in collagen-coding genes, mainly COL2A1 or COL11A1 associated with Stickler syndrome type 1 (STL1) or type 2 (STL2), respec...
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A proposal for an updated staging system for LCHADD retinopathy Ophthalmic Genet. (IF 1.2) Pub Date : 2024-01-30 Nida Wongchaisuwat, Melanie B. Gillingham, Paul Yang, Lesley Everett, Ashley Gregor, Cary O. Harding, Jose Alain Sahel, Ken K. Nischal, Hannah L. Scanga, Danielle Black, Jerry Vockley, Georgianne Arnold, Mark E. Pennesi
To develop an updated staging system for long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency (LCHADD) chorioretinopathy based on contemporary multimodal imaging and electrophysiology.We ev...
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Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa Ophthalmic Genet. (IF 1.2) Pub Date : 2024-01-29 Jianfu Zhuang, Rongcai Zhang, Biting Zhou, Zongfu Cao, Jie Zhou, Xiaole Chen, Nanwen Zhang, Yihua Zhu, Juhua Yang
To identify RHO mutations in patients with non-syndromic retinitis pigmentosa (NS-RP).A total of 143 probands (46 family history and 97 sporadic cases) with NS-RP were recruited from Southeast Chin...
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A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping Ophthalmic Genet. (IF 1.2) Pub Date : 2024-01-26 William J. Waldock, Laura J. Taylor, Sian Sperring, Federica Staurenghi, Cristina Martinez-Fernandez de la Camara, Jennifer Whitfield, Penny Clouston, Imran H. Yusuf, Robert E. MacLaren
Molecular confirmation of pathogenic sequence variants in the CHM gene is required prior to enrolment in retinal gene therapy clinical trials for choroideremia. Individuals with mild choroideremia ...
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Association of TAS2R16 gene (rs860170, rs978739, rs1357949) polymorphisms and TAS2R16 serum levels in patients with age-related macular degeneration Ophthalmic Genet. (IF 1.2) Pub Date : 2024-01-26 Ieva Inokaityte, Greta Gedvilaite, Rasa Liutkeviciene
The aim of this study is to determine the association of TAS2R16 (rs860170, rs978739, rs1357949) gene polymorphisms and TAS2R16 serum levels in patients with the occurrence of age-related macular d...
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Association of GNB3, ACE polymorphisms with POAG and NTG Ophthalmic Genet. (IF 1.2) Pub Date : 2024-01-26 Alexander N. Samoylov, Polina Tumanova, Sofya A. Pankratova, Liana Sh. Ashryatova, Denis Plotnikov
Primary open-angle glaucoma (POAG) represents the most prevalent form of glaucoma and stands as a foremost contributor to irreversible vision impairment on a global scale. Despite notable strides m...
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Aberrant gene expression yet undiminished retinal ganglion cell genesis in iPSC-derived models of optic nerve hypoplasia Ophthalmic Genet. (IF 1.2) Pub Date : 2024-01-26 Jennifer G. Aparicio, Hanno Hopp, Narine Harutyunyan, Carly Stewart, David Cobrinik, Mark Borchert
Optic nerve hypoplasia (ONH), the leading congenital cause of permanent blindness, is characterized by a retinal ganglion cell (RGC) deficit at birth. Multifactorial developmental events are hypoth...
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Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome Ophthalmic Genet. (IF 1.2) Pub Date : 2024-01-26 Keri Mc Lean, Stefano Bignotti, Michele Callea, Francisco Cammarata-Scalisi, Bernhard Steger, David Armstrong, Maeve Lagan, Janet Sinton, Francesco Semeraro, Stephen B. Kaye, Vito Romano, Colin E. Willoughby
To report ocular manifestations, clinical course, and therapeutic management of patients with molecular genetically confirmed keratitis-ichthyosis-deafness syndrome.Four patients, aged 19 to 46, wi...
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RTN4IP1-associated non-syndromic optic neuropathy and rod-cone dystrophy Ophthalmic Genet. (IF 1.2) Pub Date : 2024-01-15 Priya R. Gupta, Kaitlin O’Connell, Jack M. Sullivan, Rachel M. Huckfeldt
Biallelic variants in RTN4IP1 are a well-established cause of syndromic and nonsyndromic early-onset autosomal recessive optic neuropathy. They have more recently been reported to cause a concomita...
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Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature Ophthalmic Genet. (IF 1.2) Pub Date : 2024-01-17 Fatemeh Abdi, Sadaf Parvin, Vahid Zare Hosseinabadi, Maryam Kachoui, Arzhang Gordiz, Sara Hemmati, Parvaneh Karimzadeh
Biotinidase deficiency (BD) is an inherited autosomal recessive metabolic disorder. BD has been associated with optic nerve atrophy, eye infections, and retinopathy. The most prevalent ophthalmic m...
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Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females Ophthalmic Genet. (IF 1.2) Pub Date : 2024-01-10 Sekita Dalsgård Petersen, Mohamed Belmouhand, Jens Michael Hertz, Christina Fagerberg, Charlotte Brasch-Andersen, Jakob Grauslund, Francis L. Munier, Michael Larsen
We report a three-generation family with isolated Alport-like retinal abnormalities in the absence of lenticonus, hearing loss, kidney disease, and detectable molecular genetic defects in known Alp...
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PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature Ophthalmic Genet. (IF 1.2) Pub Date : 2024-01-08 Senol Demir, Mehmet Orkun Sevik, Aysenur Ersoy, Bilgen Bilge Geckinli, Ozlem Sahin, Esra Arslan Ates
PHARC syndrome (MIM:612674) is a rare neurodegenerative disorder characterized by demyelinating polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts (PHARC). The syndrome is ca...
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Unraveling Hermansky–Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants Ophthalmic Genet. (IF 1.2) Pub Date : 2023-12-14 Rita Rodrigues, Rita Quental, Renato Santos Silva, Lídia Costa, Sérgio Estrela-Silva
We report a case of Hermansky–Pudlak Syndrome type 7 (HPS-7) caused by a homozygous variant in the dystrobrevin-binding protein 1 gene (DTNBP1) and highlight the genetic challenges associated with ...
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Schimmelpenning-Feuerstein-Mims syndrome with orbital choristoma and KRAS mutation: a current review and novel case report Ophthalmic Genet. (IF 1.2) Pub Date : 2023-12-14 Lauren B. Yeager, Daniel S. Casper, Armando Del Portillo, Brian P. Marr
Schimmelpenning-Feurstein-Mims Syndrome (SFMS) is a rare neurocutaneous disorder. Herein, we describe a novel case and review the phenotypic spectrum and molecular findings of SFMS from an ophthalm...
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Foveal hypoplasia in a Chinese adolescent with 48, XXYY syndrome Ophthalmic Genet. (IF 1.2) Pub Date : 2023-12-12 Chunli Chen, Sitong Guo, Zhiqin Huang, Tao Fu, Libin Jiang, Fred Kuanfu Chen
48, XXYY syndrome is a rare sex chromosome aneuploidy with severe systemic features. Ophthalmic manifestation of 48, XXYY syndrome include hypertelorism, epicanthic folds, hooded eye lids, strabism...
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Case report: ocular manifestations of a gain-of-function mutation in CLCN6, a newly diagnosed disease Ophthalmic Genet. (IF 1.2) Pub Date : 2023-12-14 Lawrencia Kimera, Sameera Nadimpalli, Sudhi Kurup, F. Sessions Cole, Russell Huang, Kathleen Sisco, Hantamalala Ranay Ranaivo, Marwan Shinawi, Patricia Dickson, Ali Mian, Margaret Reynolds, Undiagnosed Diseases Network
In 2020, a new disease was reported by Polovitskaya et al., caused by a monoallelic, gain-of-function mutation in CLCN6, encoding the ClC-6 Cl−/H±exchanger.Here, we report the ophthalmic findings o...
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Male infertility may be associated with IFT140-related autosomal recessive retinitis pigmentosa Ophthalmic Genet. (IF 1.2) Pub Date : 2023-12-11 Leslie Huang, Elizabeth Kellom, Kimberly Stepien
Pathogenic variants in IFT140 have been reported in cases of both syndromic and nonsyndromic retinitis pigmentosa (RP). Syndromic forms of IFT140-related RP have been associated with short-rib thor...
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Mutations in AGBL5 associated with Retinitis pigmentosa Ophthalmic Genet. (IF 1.2) Pub Date : 2023-12-11 Diego I. Paredes, Nicholas R. Bello, Jenina E. Capasso, Rebecca Procopio, Alex V. Levin
Retinitis pigmentosa (RP) is the leading cause of heritable retinal visual impairment. Clinically, it is characterized by a variable onset of progressive night blindness and visual field constricti...
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Band-shaped keratopathy in HNF4A-related Fanconi syndrome: a case report and review of the literature Ophthalmic Genet. (IF 1.2) Pub Date : 2023-11-24 Anshuman Verma, Dilip Kumar Mishra, Deepak P. Edward, Muralidhar Ramappa
Fanconi’s syndrome (FS) is characterized by type-2 renal tubular acidosis, short stature, and renal rickets, along with glycosuria, aminoaciduria, hypophosphaturia, and urinary bicarbonate wasting....
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PNPLA6 disorders: what’s in a name? Ophthalmic Genet. (IF 1.2) Pub Date : 2023-11-20 James Liu, Robert B. Hufnagel
Variants in the patatin-like phospholipase domain containing 6 (PNPLA6) gene cause a broad spectrum of neurological disorders characterized by gait disturbance, visual impairment, anterior hypopitu...
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Autosomal dominant neovascular inflammatory vitreoretinopathy with CAPN5 c.731T > C gene mutation; clinical management of a family cohort and review of the literature Ophthalmic Genet. (IF 1.2) Pub Date : 2023-11-20 Tarek Tabbaa, Ankur A. Mehra, Natasha P. Kesav, Vinit B. Mahajan, Roy D. Swanson, Ryan Zubricky, Warren M. Sobol
To report a cohort of patients with clinically and genetically diagnosed autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) and showcase the spectrum of the disease utilizing mul...
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An overview of RB1 transcript alterations detected during retinoblastoma genetic screening Ophthalmic Genet. (IF 1.2) Pub Date : 2023-11-06 Elizabeth A. Price, Mandeep S. Sagoo, M. Ashwin Reddy, Zerrin Onadim
Identification of pathogenic RB1 variants aids in the clinical management of families with retinoblastoma. We routinely screen DNA for RB1 variants, but transcript analysis can also be used for var...
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Hypomorphic CDHR1 variants may result in retinitis pigmentosa with relative preservation of cone function Ophthalmic Genet. (IF 1.2) Pub Date : 2023-09-20 Soma Farag, Imran H. Yusuf, Maria Kaukonen, Laura J. Taylor, Peter Charbel Issa, Robert E. MacLaren
Retinitis pigmentosa (RP) associated with biallelic variants in CDHR1 has rarely been reported, and detailed phenotyping data are not available. RP implies relative preservation of foveal cones, wh...
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Floating-Harbor syndrome with chorioretinal colobomas Ophthalmic Genet. (IF 1.2) Pub Date : 2023-09-18 Samantha Alanis, M. P. Blair, L. M. Kaufman, G. Bhat, Michael J. Shapiro
We present a case of a child with Floating-Harbor Syndrome (FHS) with bilateral chorioretinal coloboma (CC). To the best of our knowledge, this is the first case report of this association. Floatin...
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Ocular manifestations of the genetic renal tubulopathies Ophthalmic Genet. (IF 1.2) Pub Date : 2023-09-13 GeFei Yang, Heather Mack, Philip Harraka, Deb Colville, Judy Savige
The genetic tubulopathies are rare and heterogenous disorders that are often difficult to identify. This study examined the tubulopathy-causing genes for ocular associations that suggested their ge...
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Neuropathy, ataxia, retinitis pigmentosa: a case of a mother and two siblings Ophthalmic Genet. (IF 1.2) Pub Date : 2023-09-06 Mark Rabinovich, Olivia Zambrowski, Alexandra Miere, Rakia Bhouri, Eric Souied
ABSTRACT Aim We describe the ophthalmic manifestations of Neuropathy, ataxia, retinitis pigmentosa (NARP) syndrome in three related patients. Methods We examined a mother and her two children, who were carriers of the mt 8993T>G mutation. The mother, patient I, is the first known carrier within the family pedigree. Patients II and III are her children from a non-carrier father. NARP syndrome and the
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Multimodal and longitudinal evaluation of novel phenotype-genotype correlation of CLN3 isolated retinal degeneration in an hispanic female with heterozygous mutations c.944dup and c.1305C>G Ophthalmic Genet. (IF 1.2) Pub Date : 2023-08-24 Lucas A. Garza-Garza, Priscila Villarreal-Martinez, Rocio Villafuerte-de la Cruz, Manuel Garza-Leon
ABSTRACT Background Inherited retinal disorders (IRDs) are a complex group of heritable diseases which are characterized by rod, cone, retinal pigment epithelium, or optic nerve dysfunction. Recently, mutations in CLN3 have also been associated with isolated IRDs. Herein, a case with heterozygous CLN3 variations that had not been previously linked to a CLN3-isolated retinal degeneration (CLN3IRD) phenotype
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A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas Ophthalmic Genet. (IF 1.2) Pub Date : 2023-08-21 Naoko Fukunaga, Takaaki Hayashi, Yuki Yamada, Kei Mizobuchi, Arihito Ohta, Tadashi Nakano
ABSTRACT Background Neurofibromatosis type 1 (NF1) is a multisystem disorder that primarily affects the skin and peripheral nervous system and is caused by chromosomal abnormalities and mostly truncating variants in the NF1 gene. Ocular complications such as Lisch nodules and optic pathway gliomas (OPGs) can occur in NF1 patients. Herein, we report a novel NF1 variant in an NF1 patient with bilateral
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Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy. Ophthalmic Genet. (IF 1.2) Pub Date : 2023-08-17 Mariana Matioli da Palma,Molly Marra,Austin D Igelman,Cristy A Ku,Amanda Burr,Katherine Andersen,Lesley A Everett,Fernanda B O Porto,Juliana Maria Ferraz Sallum,Paul Yang,Mark E Pennesi
BACKGROUND Variants in HGSNAT have historically been associated with syndromic mucopolysaccharidosis type IIIC (MPSIIIC) but more recent studies demonstrate cases of HGSNAT-related non-syndromic retinitis pigmentosa. We describe and expand the genotypic and phenotypic spectrum of this disease. MATERIALS AND METHODS This is a retrospective, observational, case series of 11 patients with pericentral
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Choroideremia presenting as vision loss secondary to choroidal neovascularization. Ophthalmic Genet. (IF 1.2) Pub Date : 2023-08-14 Landon J Rohowetz,Anne L Kunkler,Jesse D Sengillo,Thomas A Lazzarini,Byron L Lam,Audina M Berrocal
BACKGROUND Choroidal neovascularization (CNV) is a rare complication of choroideremia that occurs secondary to relative atrophy of the retinal pigment epithelium and eventual rupture of Bruch's membrane. The ideal management of CNV in choroideremia is unclear. MATERIALS AND METHODS Case report. OBSERVATIONS A 14-year-old male with no known ocular history presented to the eye emergency department complaining
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Uncommon fundus presentation of Koolen-De Vries Syndrome in a young boy Ophthalmic Genet. (IF 1.2) Pub Date : 2023-08-02 Hamad Alomairah, Abdullah Ali, Rabeah Altemaimi, Talal Alabduljalil
ABSTRACT Introduction Koleen-De Vries syndrome (KDVS) is a rare genetic condition characterized by typical facial features, intellectual disability, cardiac and renal diseases, and ophthalmic manifestations. The syndrome is known to be caused by a microdeletion in the 17q21.31 region, involving multiple genes, including the KANSL1 gene. Case Presentation We present the case of a 9-year-old boy with
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A comparison of the ocular features in Pierson and Alport syndrome: a case report and literature review Ophthalmic Genet. (IF 1.2) Pub Date : 2023-08-03 Kieran Gooley, Peter Williams, Heather Mack, Victor Zhu, David Langsford, Tim Pianta, David Barit, Khalid Mahmood, Judy Savige
Pierson syndrome and X-linked Alport syndrome result from pathogenic variants in LAMB2 and COL4A5, respectively, and both affect basement membranes in the kidney and the eye. This study describes t...
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The genetic counselor workforce in inherited retinal disease clinics: a descriptive assessment Ophthalmic Genet. (IF 1.2) Pub Date : 2023-08-02 Michelle Alabek, Katherine Andersen, Lesley Everett, Molly Marra
Genetic counselors (GCs) have practiced in Inherited Retinal Disease (IRD) clinics for several decades. In this small subspecialty of genetic counseling, GCs are critical for patient understanding ...
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Optic nerve abnormalities in female-restricted Wieacker-Wolff syndrome by a novel variant in the ZC4H2 gene Ophthalmic Genet. (IF 1.2) Pub Date : 2023-07-31 Marisol Ibarra-Ramírez, Marissa L Fernandez-de-Luna, Luis D Campos-Acevedo, Joel Arenas-Estala, Laura E Martínez-de-Villarreal, Claudia Rodríguez-Garza, Oscar DeLagarza-Pineda, Jibran Mohamed-Noriega
Wieacker-Wolff syndrome is an ultra-rare disease with X-linked inheritance characterized by arthrogryposis, intellectual disability, microcephaly, and distal limb muscle atrophy. Ophthalmic abnorma...
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Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients Ophthalmic Genet. (IF 1.2) Pub Date : 2023-07-28 Junya Ota, Taiga Inooka, Satoshi Okado, Natsuki Maeda, Yoshito Koyanagi, Taro Kominami, Koji M. Nishiguchi, Shinji Ueno
Nanophthalmos (NNO) is a rare condition with significantly shorter axial length than normal. Several genes are known to cause NNO, among them the MFRP and PRSS56 genes have been reported to cause m...
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Cryptophthalmos: associated syndromes and genetic disorders Ophthalmic Genet. (IF 1.2) Pub Date : 2023-07-26 Daphna Landau-Prat, Diana H. Kim, Sana Bautista, Alanna Strong, Karen E. Revere, William R. Katowitz, James A. Katowitz
Cryptophthalmos is a rare congenital condition caused by anomalous eyelid development where the eyelid folds do not develop or fail to separate. Cryptophthalmos can be unilateral or bilateral and c...
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Female carrier of RPGR mutation presenting with high myopia Ophthalmic Genet. (IF 1.2) Pub Date : 2023-07-25 Aikaterini K. Seliniotaki, Athina Ververi, Stavrenia Koukoula, Georgios Efstathiou, Spyridon Gerou, Nikolaos Ziakas, Asimina Mataftsi
ABSTRACT Background Inherited retinopathies can initially present with high refractive error in the first decade of life, before accompanying signs or symptoms are evident. Case presentation A 4-year-old girl with high myopia (S-12.00 C-4.00 × 20 in the right and S-14.50 C-2.75 × 160 in the left eye), moderate visual acuity (0.3 logMAR in the right and 0.4 logMAR in the left eye), and left esotropia
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Local progression kinetics of macular atrophy in recessive Stargardt disease Ophthalmic Genet. (IF 1.2) Pub Date : 2023-06-29 Benjamin K. Young, Peter Y. Zhao, Liangbo L. Shen, Abigail T. Fahim, K. Thiran Jayasundera
To determine the effect of lesion topography on progression in Stargardt disease (STGD1).Fundus autofluoresence (excitation 488 nm) images of 193 eyes in patients with proven ABCA4 mutation were se...
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Clinical characterization of patients with PRPF31-related retinitis pigmentosa and asymptomatic carriers: a cross-sectional study Ophthalmic Genet. (IF 1.2) Pub Date : 2023-06-09 Kristian Lisbjerg, Mette Bertelsen, Karen Grønskov, Line Kessel
To describe the clinical phenotype of retinitis pigmentosa (RP) caused by PRPF31-variants and clinical characterization of asymptomatic PRPF31 carriers.We conducted a descriptive cross-sectional de...
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Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the ABCC6 gene Ophthalmic Genet. (IF 1.2) Pub Date : 2023-05-31 Amit V. Mishra, Rosanna Martens, Ian M. MacDonald
Pseudoxanthoma elasticum (PXE) is an autosomal recessive condition caused by mutations in the ABCC6 gene. Ocular features include angioid streaks, peau d’orange fundus, and drusen. We report a nove...
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IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search Ophthalmic Genet. (IF 1.2) Pub Date : 2023-05-31 Dhimas H. Sakti, Elisa E. Cornish, Benjamin M. Nash, Robyn V. Jamieson, John R. Grigg
Inosine monophosphate dehydrogenase (IMPDH) is a key regulatory enzyme in the de novo synthesis of the purine base guanine. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) are ...
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Phenotypic and genotypic features of POC1B-associated cone dystrophy Ophthalmic Genet. (IF 1.2) Pub Date : 2023-05-29 Tariq A. Alzahem, Abdulwahab AlTheeb, Rola Ba-Abbad
Patients with cone dystrophy (CD) can present with virtually normal retinal appearance, which may delay diagnosis. This study describes the inconspicuous clinical features of POC1B-associated CD in...
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Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1 Ophthalmic Genet. (IF 1.2) Pub Date : 2023-05-29 Monika K Grudzinska Pechhacker, Anna Molnar, Nadja Pekkola Pacheco, Håkan Thonberg, Laurence Querat, Ulrika Birkeldh, Ann Nordgren, Anna Lindstrand
The sodium channel and clathrin linker 1 gene (SCLT1) has been involved in the pathogenesis of various ciliopathy disorders such as Bardet-Biedl syndrome, orofaciodigital syndrome type IX, and Seni...
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Very Large Cystoid Macular Lesions Identified Using Outlier Analysis of Genetically Confirmed Inherited Retinal Disease Cases Ophthalmic Genet. (IF 1.2) Pub Date : 2023-05-29 Bani Antonio-Aguirre, Carlthan Ling, Mandeep S. Singh
Cystoid macular lesions (CML) in inherited retinal diseases (IRDs) can contribute to vision impairment. Studying the morphologic range and outlier presentations of CML may inform clinical associati...
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A case report of retinal dystrophy in patients with PACS1 syndrome Ophthalmic Genet. (IF 1.2) Pub Date : 2023-05-23 Jaime E Brown, Breanna Aldred, Tyler Boulter, Rachel Sullivan, James Ver Hoeve, Bikash R Pattnaik, Melanie Schmitt
PACS1 syndrome, also referred to as Schuurs-Hoeijmakers syndrome, is a multisystemic developmental disorder caused by a specific pathogenic variant in the PACS1 (phosphofurin acidic cluster sorting...
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Motivations and expectations of parents seeking genetic testing for their children with ocular genetic disease Ophthalmic Genet. (IF 1.2) Pub Date : 2023-05-12 Hannah Gage, Leah Wetherill, Katelynn Anderson, Erin Conboy, Kathryn Haider
ABSTRACT Background To date, almost 600 genes have been associated with ocular genetic diseases. As these discoveries are made, clinical genetic testing continues to grow and become a more common element in the diagnostic workup of children with blindness and reduced vision. However, few studies have explored the motivations of parents of pediatric patients for pursuing genetic testing or the topics
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Evaluation of myopia-associated genes in a Han Chinese population with high myopia Ophthalmic Genet. (IF 1.2) Pub Date : 2023-05-11 Zhenzhen Liu, Guangqi An, Yadan Huo, Youmei Xu, Pengyi Zhou, Kunpeng Xie, Haiyan Zhu, Bo Jin, Liping Du, Xuemin Jin
ABSTRACT Background High myopia is a leading cause of blindness worldwide. However, the exact etiology and mechanism of high myopia remain unclear. Previous genome-wide association study has demonstrated that nine single nucleotide polymorphisms (SNPs) in East and Southeast Asian populations were associated with high myopia and proved that the nervous system was involved in the pathogenesis of high
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Syndromic retinitis pigmentosa caused by biallelic SCAPER frameshift variant Ophthalmic Genet. (IF 1.2) Pub Date : 2023-05-09 Shaden H. Yassin, Fritz Gerald P. Kalaw, Alexa Li, Emily Fletcher, Shyamanga Borooah
Mutations in the SCAPER gene have previously been reported to be a rare cause of syndromic and non-syndromic autosomal recessive retinitis pigmentosa (RP). We report a case of syndromic RP caused b...
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Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3 Ophthalmic Genet. (IF 1.2) Pub Date : 2023-05-09 Syrine Hizem, Rym Maamouri, Anissa Zaouak, Imen Rejeb, Sana Karoui, Molka Sebai, Houweyda Jilani, Yasmina Elaribi, Sami Fenniche, Monia Cheour, Frédéric Bilan, Lamia Ben Jemaa
Ectrodactyly is a rare congenital limb malformation characterized by a deep median cleft of the hand and/or foot due to the absence of central rays. It could be isolated or depicts a part of divers...
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Positive feedback loop between vision-related anxiety and self-reported visual difficulty Ophthalmic Genet. (IF 1.2) Pub Date : 2023-05-04 Lilia T. Popova, Rebhi O. Abuzaitoun, David M. Fresco, Maria Fernanda Abalem, Chris A. Andrews, David C. Musch, Joshua R. Ehrlich, K. Thiran Jayasundera
ABSTRACT Background Patients with Inherited Retinal Diseases typically experience progressive, irreversible vision loss resulting in low vision and blindness. As a result, these patients are at high risk for vision-related disability and psychological distress, including depression and anxiety. Historically, the relationship between self-reported visual difficulty (encompassing metrics of vision-related