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-Reference-Cited by-同舟云学术

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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

Published:2023-08-24 Issue: Volume: Page:1-6
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Garza-Garza Lucas A.¹,Villarreal-Martinez Priscila¹²,Villafuerte-de la Cruz Rocio¹³,Garza-Leon Manuel¹²^ORCID

Affiliation:

1. Fundación Destellos de Luz, San Pedro Garza García, México

2. Departamento de Ciencias Clínicas de la División de Ciencias de la Salud, Universidad de Monterrey, San Pedro Garza García, México

3. Escuela de Medicina y Ciencias de la Salud, Tecnologico de Monterrey, Monterrey, Mexico

Funder

reported

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2023.2245460

Reference23 articles.

1. Non-syndromic retinitis pigmentosa

2. Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities

3. Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3)

4. Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa

5. Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium

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