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ARVO Annual Meeting Abstract June 2025

Age Estimation of TMEM216 c.-69G>A and c.-69G>T Mutations in Pakistani and African Populations Affected by Non-Syndromic Retinitis Pigmentosa

Shiwali Goyal; Xiaodong Jiao; Pooja Biswas; Siying Lin; Samantha Malka; Mukhtar Ullah; Mathieu Quinodoz; S Amer Riazuddin; Gavin Arno; Muhammad Ansar; Carlo Rivolta; Radha Ayyagari; Andrew Webster; James Fielding Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):3137.

ARVO Annual Meeting Abstract June 2025

Progressive Chorioretinopathy in Bietti’s Crystalline Dystrophy by Multimodal Retinal Imaging

Qian LI; Xiaodong Jiao; James Fielding Hejtmancik; Xiaoyan Peng

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):5513.

ARVO Annual Meeting Abstract June 2025

Clinical and genetic landscape of congenital cataract: systematic insights into 39 genes

Dongwei Guo; Yi Jiang; yuxi zheng; Shiqiang Li; Guangming Jin; Xueshan Xiao; Xiaoyun Jia; Wenmin Sun; Danying Zheng; James Fielding Hejtmancik; Qingjiong Zhang

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1358.

ARVO Annual Meeting Abstract June 2025

Whole Exome Sequencing Identifies Novel and Known Mutations in 15 Pakistani Families with Inherited Retinal Dystrophies

Mohd Hussain Hussain Shah; Xiaodong Jiao; Shiwali Goyal; Sheikh Riazuddin; S Amer Riazuddin; Bushra Rauf; Muhammad Asif Naeem; Radha Ayyagari; James Fielding Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1826.

ARVO Annual Meeting Abstract June 2025

Comprehensive reanalysis of a large cohort of unsolved hereditary optic atrophy: insight from novel causative genes

yuxi zheng; Xiaoyun Jia; Shiqiang Li; Yi Jiang; Dongwei Guo; Xueshan Xiao; James Fielding Hejtmancik; Wenmin Sun; Qingjiong Zhang

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):3204.

Retina January 2025

ABCA4 Deep Intronic Variants Contributed to Nearly Half of Unsolved Stargardt Cases With a Milder Phenotype

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Yingwei Wang; Pangfeng Wang; Zhen Yi; Jiamin Ouyang; Yi Jiang; Shiqiang Li; Xiaoyun Jia; Xueshan Xiao; James Fielding Hejtmancik; Wenmin Sun; Qingjiong Zhang
TAGS: abca4 gene, introns, phenotype
Invest. Ophthalmol. Vis. Sci.. 2025; 66(1):65. https://doi.org/10.1167/iovs.66.1.65

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

Targeted lipidomics uncovers oxylipin perturbations in Bietti's crystalline dystrophy

Qian LI; Zhongjie Fu; James Fielding Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1696.

ARVO Annual Meeting Abstract June 2024

Identification and evaluation of a non-coding variant located in the 5'-UTR of TMEM216 as an underlying cause of non-syndromic recessive retinal degeneration (RD) in Pakistani families.

Anne Marie Berry; Pooja Biswas; Gavin Arno; Mathieu Quinodoz; Riccardo Sangermano; Jiao Xiaodong; Mukhtar Ullah; Alison J Hardcastle; Kelly A Frazer; James Fielding Hejtmancik; Matteo D'Antonio; S. Amer Riazuddin; Carlo Rivolta; Kinga Maria Bujakowska; Andrew R Webster; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5287.

ARVO Annual Meeting Abstract June 2015

Identification of a mutation in ASRGL1 as the underlying cause of early-onset recessive Retinal Degeneration (RD).

Pooja Biswas; Venkata R M Chavali; Giulia Agnello; Jacque L Duncan; Muhammad Asif Naeem; Sheikh Riazuddin; James Fielding Hejtmancik; George Georgiou; S Amer Riazuddin; Radha Ayyagari; Genetics

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4348.

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