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COVER IMAGE

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Cover Image, Volume 184, Number 3, September 2020

  • Page: i
  • First Published: 23 September 2020
Cover Image, Volume 184, Number 3, September 2020

Cover image: Retinal findings in patients with Heimler Syndrome. Above, a color ultrawide-field retinal image showing signs of retinal dystrophy, including pigment clumping and vessel attenuation. Below, a macular Optical Coherence Tomography (OCT) image characterized by cystic spaces and discontinuity of the outer retinal layers. Patients typically present with decreased best corrected visual acuity, night blindness, and peripheral visual field constriction. Extraocular findings include sensorineural hearing loss and amelogenesis imperfecta. Cover image by Malena Daich Varela, Laryssa A. Huryn, and Robert B. Hufnagel.

ISSUE INFORMATION

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Table of Contents, Volume 184, Number 3, September 2020

  • Pages: 531-533
  • First Published: 23 September 2020
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Publication schedule for 2020

  • Page: 534
  • First Published: 23 September 2020

INTRODUCTION

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Introduction to the special issue on Ophthalmic Genetics: Vision in 2020

Robert B. Hufnagel,  Michael A. Walter,  Gavin Arno, 
  • Pages: 535-537
  • First Published: 31 August 2020

RESEARCH REVIEWS

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A diagnostic approach to syndromic retinal dystrophies with intellectual disability

Xiao-Ru Yang,  Matthew D. Benson,  Ian M. MacDonald,  A. Micheil Innes, 
  • Pages: 538-570
  • First Published: 11 September 2020
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Genetic testing for inherited retinal degenerations: Triumphs and tribulations

Kari Branham,  Dana Schlegel,  Abigail T. Fahim,  K. Thiran Jayasundera, 
  • Pages: 571-577
  • First Published: 31 August 2020

RESEARCH ARTICLE

Open Access

Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom

Daniel Jackson,  Samantha Malka,  Philippa Harding,  Juliana Palma,  Hannah Dunbar,  Mariya Moosajee, 
  • Pages: 578-589
  • First Published: 23 August 2020

RESEARCH REVIEW

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Ocular coloboma: Genetic variants reveal a dynamic model of eye development

Kevin H. Yoon,  Sabrina C. Fox,  Renée Dicipulo,  Ordan J. Lehmann,  Andrew J. Waskiewicz, 
  • Pages: 590-610
  • First Published: 27 August 2020

RESEARCH ARTICLES

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CHARGE syndrome without colobomas: Ophthalmic findings

Eniolami O. Dosunmu,  Katherine M. Castleberry, 
  • Pages: 611-617
  • First Published: 10 September 2020
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The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature

Malena Daich Varela,  Priyam Jani,  Wadih M. Zein,  Precilla D'Souza,  Lynne Wolfe,  Jennifer Chisholm,  Christopher Zalewski,  David Adams,  Blake M. Warner,  Laryssa A. Huryn,  Robert B. Hufnagel, 
  • Pages: 618-630
  • First Published: 31 August 2020
Open Access

A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis

Elena R. Schiff,  Malena Daich Varela,  Anthony G. Robson,  Karen Pierpoint,  Rola Ba-Abbad,  Savita Nutan,  Wadih M. Zein,  Ehsan Ullah,  Laryssa A. Huryn,  Sari Tuupanen,  Omar A. Mahroo,  Michel Michaelides,  Derek Burke,  Katie Harvey,  Gavin Arno,  Robert B. Hufnagel,  Andrew R. Webster, 
  • Pages: 631-643
  • First Published: 07 August 2020
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Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations

Virginia Miraldi Utz,  Diana S. Brightman,  Monica A. Sandoval,  Robert B. Hufnagel,  Howard M. Saal, 
  • Pages: 644-655
  • First Published: 05 September 2020
Open Access

Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population

Kaoru Fujinami,  Akio Oishi,  Lizhu Yang,  Gavin Arno,  Nikolas Pontikos,  Kazutoshi Yoshitake,  Yu Fujinami-Yokokawa,  Xiao Liu,  Takaaki Hayashi,  Satoshi Katagiri,  Kei Mizobuchi,  Atsushi Mizota,  Kei Shinoda,  Natsuko Nakamura,  Toshihide Kurihara,  Kazuo Tsubota,  Yozo Miyake,  Takeshi Iwata,  Akitaka Tsujikawa,  Kazushige Tsunoda,  Japan Eye Genetics Consortium study group , 
  • Pages: 656-674
  • First Published: 20 August 2020
Open Access

RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype–phenotype association

Kaoru Fujinami,  Xiao Liu,  Shinji Ueno,  Atsushi Mizota,  Kei Shinoda,  Kazuki Kuniyoshi,  Yu Fujinami-Yokokawa,  Lizhu Yang,  Gavin Arno,  Nikolas Pontikos,  Shuhei Kameya,  Taro Kominami,  Hiroko Terasaki,  Hiroyuki Sakuramoto,  Natsuko Nakamura,  Toshihide Kurihara,  Kazuo Tsubota,  Yozo Miyake,  Kazutoshi Yoshiake,  Takeshi Iwata,  Kazushige Tsunoda,  Japan Eye Genetics Consortium Study Group , 
  • Pages: 675-693
  • First Published: 01 September 2020
Open Access

Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1

Xiao Liu,  Xiaohong Meng,  Lizhu Yang,  Yanling Long,  Yu Fujinami-Yokokawa,  Jiayun Ren,  Toshihide Kurihara,  Kazuo Tsubota,  Kazushige Tsunoda,  Kaoru Fujinami,  Shiying Li,  East Asia Inherited Retinal Disease Society Study Group , 
  • Pages: 694-707
  • First Published: 26 August 2020
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Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy

Sarah Hull,  Gulunay Kiray,  John Pei-Wen Chiang,  Andrea L. Vincent, 
  • Pages: 708-717
  • First Published: 28 August 2020

RESEARCH REVIEW

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Ophthalmic genetics practice and research in India: Vision in 2020

Mayank Bansal,  Radhika Tandon,  Rohit Saxena,  Arundhati Sharma,  Sagnik Sen,  Alisha Kishore,  Pradeep Venkatesh,  Souvik Maiti,  Debojyoti Chakraborty, 
  • Pages: 718-727
  • First Published: 31 August 2020

RESEARCH ARTICLES

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Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients

Juliana Maria Ferraz Sallum,  Fabiana Louise Motta,  Gavin Arno,  Fernanda Belga Ottoni Porto,  Rosane Guazi Resende,  Rubens Belfort Jr, 
  • Pages: 728-752
  • First Published: 31 August 2020
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Ophthalmic genetics in South America

Malena Daich Varela,  Rene Moya,  Patricio G. Schlottmann,  Robert B. Hufnagel,  Claudia Arberas,  Federico M. Fernández,  M. Eugenia Inga,  Juliana Lores,  Harry Pachajoa,  Carlos E. Prada,  Juliana M. Ferraz Sallum, 
  • Pages: 753-761
  • First Published: 28 August 2020
Open Access

The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates

Cécile Méjécase,  Igor Kozak,  Mariya Moosajee, 
  • Pages: 762-772
  • First Published: 11 August 2020

RESEARCH REVIEWS

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Inherited eye diseases in Turkey: Current approaches and future directions

Fulya Yaylacioglu Tuncay,  Sezen Guntekin Ergun,  Ayse Oner,  Ayse Turan,  Emin Ozmert,  Mehmet Ali Ergun,  Sengul Ozdek, 
  • Pages: 773-781
  • First Published: 30 August 2020
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Insights into the regulatory molecules involved in glaucoma pathogenesis

Hamidreza Moazzeni,  Marzieh Khani,  Elahe Elahi, 
  • Pages: 782-827
  • First Published: 16 September 2020

RESEARCH ARTICLE

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Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network

Kerry E. Goetz,  Melissa J. Reeves,  Shaina Gagadam,  Delphine Blain,  Chelsea Bender,  Cara Lwin,  Amelia Naik,  Santa J. Tumminia,  Robert B. Hufnagel, 
  • Pages: 828-837
  • First Published: 07 September 2020

RESEARCH REVIEWS

Open Access

Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non-profit foundation

Brian C. Mansfield,  Benjamin R. Yerxa,  Kari H. Branham, 
  • Pages: 838-845
  • First Published: 11 August 2020
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The new landscape of retinal gene therapy

Cristy A. Ku,  Mark E. Pennesi, 
  • Pages: 846-859
  • First Published: 05 September 2020
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Ocular genetics in the genomics age

Michael A. Walter,  Tayebeh Rezaie,  Robert B. Hufnagel,  Gavin Arno, 
  • Pages: 860-868
  • First Published: 08 September 2020