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Inherited Retinal Diseases

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  • Animal
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  • Inherited Retinal Diseases
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Case report on a de novo variant in the X-linked PRPS1 gene presenting with retinal dystrophy, severe tremors, and ataxia in a female patient

Agosto 16, 2024
Sather RN, Brown C, Montezuma SR. Case report on a de novo variant in the X-linked PRPS1 gene presenting with retinal dystrophy, severe tremors, and ataxia in a female patient. Published online August 16, 2024.

Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases

Maio 31, 2024
Surl D, Won D, Lee ST, et al. Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases. Published online May 31, 2024.

De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia

Maio 24, 2024
25. Huang X, Li H, Yang S, et al. BMC Medical Genomics. 2024;17(1):142.

Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes

Maio 8, 2024
Bodenbender JP, Marino V, Philipp J, et al. Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes. Scientific Reports. 2024;14(1):10551.

Diagnosis of Incomplete Congenital Stationary Night Blindness in a 2-year-old boy

Abril 23, 2024
Merle DA, Kohl S, Kempf M, Stingl K, Kowalski M, Kühlewein L. Klin Monbl Augenheilkd. Published online April 23, 2024.

A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD

Março 21, 2024
Suga A, Mizobuchi K, Inooka T, et al. Genetics in Medicine Open. Published online March 2024:101843. doi:10.1016/j.gimo.2024.101843

Genotype-Phenotype of CRB1-Associated Early-Onset Retinal Dystrophy: Novel Insights on Retinal Architecture and Therapeutic Window for Clinical Trials

Março 1, 2024
Jin Y, Li S, Jiang Z, et al. Investigative Ophthalmology & Visual Science. 2024;65(3):11. doi:10.1167/iovs.65.3.11

The Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort

Janeiro 19, 2024
Sather R, Ihinger J, Simmons M, Lobo GP, Montezuma SR. IJMS. 2024;25(2):1253.

Multimodal analysis of two siblings with Oguchi disease

Janeiro 2, 2024
Sane S, Mahalingam P, Ganesan G, Achari P. Indian Journal of Ophthalmology – Case Reports. 2024;4(1):296.

Suspected case of benign familial fleck retina with functional loss

Dezembro 21, 2023
Constable PA, Loh L, Grigg JR. Clinical Case Reports. 2023;11(12):e8362.

Double Hyperautofluorescence Rings as a Sign of CFAP410-related Retinopathy

Dezembro 5, 2023
Li X, Wang Y, Wang J, Wang P, Zhang Q. Investigative Ophthalmology & Visual Science. 2023;64(15):44.

Leber congenital amaurosis as the initial and essential manifestation in a Chinese patient with autoimmune polyglandular syndrome Type 1

Setembro 16, 2023
Wei X. Documenta Ophthalmologica. Published online 2023.

Clinical and Genetic Features of Korean Patients with Achromatopsia

Fevereiro 18, 2023
Choi YJ, Joo K, Lim HT, Kim SS, Han J, Woo SJ. Clinical and Genetic Features of Korean Patients with Achromatopsia. Published online February 18, 2023.

Upward saccadic intrusions as the presenting feature for incomplete congenital stationary night blindness

Dezembro 22, 2022
Aghazadeh H, MacDonald IM, Jivraj I. Journal of American Association for Pediatric Ophthalmology and Strabismus. 2023;27(1):47-49.

Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome

Dezembro 14, 2022
Wang Q, Qin T, Wang X, et al. Genes. 2022;13(12):2364.

Ocular findings and genetic test in Alström syndrome in childhood

Outubro 4, 2022
Wang Y, Huang L, Sun L, et al. Experimental Eye Research. Volume 225, December 2022.

Assessing nonsedated handheld cone flicker electroretingram as a screening test in pediatric patients: comparison to sedated conventional cone flicker electroretinogram.

Janeiro 6, 2019
Osigian CJ, Grace SF, Cavuoto KM, et al. J AAPOS. 2019;23(1):34.e1-34.e5.
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Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice

Janeiro 1, 2018
Author(s): Aiden Eblimita, Smriti Akshay Agrawala, Kandace Thomasa, Ivan Assenov Anastassovc, Tajiguli Abulikemub, Graeme Mardonb, Rui Chena Publication: Experimental Eye Research…

Nonsedated handheld electroretinogram as a screening test of retinal dysfunction in pediatric patients with nystagmus.

Setembro 15, 2017
Grace, S. F. et al. J. AAPOS 21, 384–388 (2017).
iovs-march-2017

Contributions of Second- and Third-Order Retinal Neurons to Cone Electroretinograms After Loss of Rod Function in Rhodopsin P347L Transgenic Rabbits

Março 1, 2017
Author(s): Taro Kominami; Shinji Ueno; Satoshi Okado; Ayami Nakanishi; Mineo Kondo; Hiroko Terasaki, 2017. Publication: Investigative Opthalmology and Visual Science (IOVS)…
iovs-march-2017

Arap1 Deficiency Causes Photoreceptor Degeneration in Mice

Março 1, 2017
Author(s): Ala Moshiri; Devin Humpal; Brian C. Leonard; Denise M. Imai; Addy Tham; Lynette Bower; Dave Clary; Thomas M. Glaser; K….
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Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa

Novembro 17, 2016
Author(s): Ullah, I., F. Kabir, C. B. Gottsch, M. A. Naeem, A. A. Guru, R. Ayyagari, S. N. Khan, S…

Evaluation of cone function by a handheld non-mydriatic flicker electroretinogram device.

Junho 30, 2016
Nakamura N, Fujinami K, Mizuno Y, Noda T, Tsunoda K. Clin Ophthalmol. 2016;10:1175-1185. doi:10.2147/OPTH.S104721
iovs-april-2014

A Pro23His Mutation Alters Prenatal Rod Photoreceptor Morphology in a Transgenic Swine Model of Retinitis Pigmentosa

Abril 1, 2014
Author(s): Patrick A. Scott; Juan P. Fernandez de Castro; Henry J. Kaplan; Maureen A. McCall, 2014. Publication: Investigative Ophthalmology and Visual…
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California Proposition 65 information

Prop-65Warning: This product can expose you to chemicals including lead, which is known to the State of California to cause cancer and birth defects or other reproductive harm. For more information go to www.P65Warnings.ca.gov.

Substance Tables:

The table below lists substances which may be contained within LKC’s RETeval and RETevet products. Substances listed as Type 1 are within permissible levels in one or more of LKC’s products. Substances listed as Type 2 are used in the production of some components used in LKC products and may be present at trace levels, but are typically destroyed during processing. 

RETeval and RETevet Devices

Substance CAS # Type Listed as causing:
Nickel 7440-02-0 1 Cancer
Acrylonitrile 107-13-1 2
Ethylbenzine 100-41-4 2
Crystaline Silica 14808-60-7 1
Lead 7439-92-1 1 Cancer Developmental Toxicity Male Reproductive Toxicity Female Reproductive Toxicity
Methylene Chloride 75-09-2 2 Cancer Female Reproductive Toxicity
Bisphenol A 80-05-7 2
N-Hexane  110-54-3 2 Male Reproductive Toxicity