Shedding light on myopia by studying complete congenital stationary night blindness

Zeitz, Christina; Roger, Jérôme E.; Audo, Isabelle; Michiels, Christelle; Sánchez-Farías, Nuria; Varin, Juliette; Frederiksen, Helen; Wilmet, Baptiste; Crinon, Jacques; Gimenez, Marie-Laure; Bouzidi, Nassima; Blond, Fréderic; Guilllonneau, Xavier; Fouquet, Stéphane; Léveillard, Thierry; Smirnov, Vasily; Vincent, Ajoy; Hèon, Elise; Sahel, José‐Alain; Kloeckener-Gruissem, Barbara; Sennlaub, Florian; Morgans, Catherine W.; Duvoisin, Robert M.; Tkatchenko, Andrei V.; Picaud, Serge

doi:10.1016/j.preteyeres.2022.101155

Cited by 14 publications

(6 citation statements)

References 324 publications

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“…Dysfunctions in ON-BC signaling have also been suggested to be associated with the development of refractive errors [ 16 ]. Many patients with cCSNB are found to have myopia, especially in those patients carrying with GRM6 [ 17 ] and NYX mutations [ 18 ].…”

Section: Discussionmentioning

confidence: 99%

Clinical and genetic studies for a cohort of patients with congenital stationary night blindness

Huang,

Bai,

Xie

et al. 2024

Orphanet J Rare Dis

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Background Congenital stationary night blindness (CSNB) is an inherited retinal disorder. Most of patients have myopia. This study aims to describe the clinical and genetic characteristics of fifty-nine patients with CSNB and investigate myopic progression under genetic cause. Results Sixty-five variants were detected in the 59 CSNB patients, including 32 novel and 33 reported variants. The most frequently involved genes were NYX, CACNA1F, and TRPM1. Myopia (96.61%, 57/59) was the most common clinical finding, followed by nystagmus (62.71%, 37/59), strabismus (52.54%, 31/59), and nyctalopia (49.15%, 29/59). An average SE of -7.73 ± 3.37 D progressed to -9.14 ± 2.09 D in NYX patients with myopia, from − 2.24 ± 1.53 D to -4.42 ± 1.43 D in those with CACNA1F, and from − 5.21 ± 2.89 D to -9.24 ± 3.16 D in those with TRPM1 during the 3-year follow-up; the TRPM1 group showed the most rapid progression. Conclusions High myopia and strabismus are distinct clinical features of CSNB that are helpful for diagnosis. The novel variants identified in this study will further expand the knowledge of variants in CSNB and help explore the molecular mechanisms of CSNB.

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Section: Discussionmentioning

confidence: 99%

Clinical and genetic studies for a cohort of patients with congenital stationary night blindness

Huang,

Bai,

Xie

et al. 2024

Orphanet J Rare Dis

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“…Notably, visual acuity in patients with cCSNB was better than in patients with iCSNB, consistent with findings from the previous literature. 1 , 3 , 13 This discrepancy in visual acuity might be attributed to genetic differences associated with the two subtypes. Since 1999, several genes linked to CSNB have been identified, with cCSNB being associated with five genes including NYX , TRPM1 , LRIT3 , GRM6 , and GPR179 , 3 , 13 – 15 whereas iCSNB is related to CACNA1F and CABP4.…”

Section: Discussionmentioning

confidence: 99%

“… 1 , 3 , 13 This discrepancy in visual acuity might be attributed to genetic differences associated with the two subtypes. Since 1999, several genes linked to CSNB have been identified, with cCSNB being associated with five genes including NYX , TRPM1 , LRIT3 , GRM6 , and GPR179 , 3 , 13 – 15 whereas iCSNB is related to CACNA1F and CABP4. 4 , 15 The study by Bijveld et al 1 further clarified that the distinctions between cCSNB and iCSNB arose from the varying functions and cellular localizations of the affected proteins.…”

Section: Discussionmentioning

confidence: 99%

Characterizing Retinal Sensitivity and Structure in Congenital Stationary Night Blindness: A Combined Microperimetry and OCT Study

Yu,

Hao,

Wang

et al. 2024

Invest. Ophthalmol. Vis. Sci.

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“…Myopia can also have a genetic origin (Tedja et al, 2018) such that many mutated mouse models were found to develop or to have increased susceptibility to develop myopia under application of different optical devices (Zeitz et al, 2023). For instance, mutations causing complete congenital stationary night blindness (cCSNB) in patients and animal models were often found to induce myopia (Zeitz et al, 2023). For instance, a substantial increase of the myopic shift was reported in Gpr179 −/− mice compared to wild-type littermates following a 3-week-long lens-induced myopia protocol (Wilmet et al, 2022).…”

Section: ) Induced Genetic Modelsmentioning

confidence: 99%

Rodent Models of Retinal Degeneration: From Purified Cells in Culture to Living Animals

Fradot,

Augustin,

Fontaine

et al. 2023

Cold Spring Harb Perspect Med

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Rodent models of retinal degeneration are essential for the development of therapeutic strategies. In addition to living animal models, we here also discuss models based on rodent cell cultures, such as purified retinal ganglion cells and retinal explants. These ex vivo models extend the possibilities for investigating pathological mechanisms and assessing the neuroprotective effect of pharmacological agents by eliminating questions on drug pharmacokinetics and bioavailability. The number of living rodent models has greatly increased with the possibilities to achieve transgenic modifications in animals for knocking in and out genes and mutations. The cre-lox system has further enabled investigators to target specific genes or mutations in specific cells at specific stages. However, chemically or physically induced models can provide alternatives to such targeted gene modifications. The increased diversity of rodent models has widened our possibility to address most ocular pathologies for providing initial proof of concept of innovative therapeutic strategies.

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Shedding light on myopia by studying complete congenital stationary night blindness

Cited by 14 publications

References 324 publications

Clinical and genetic studies for a cohort of patients with congenital stationary night blindness

Clinical and genetic studies for a cohort of patients with congenital stationary night blindness

Characterizing Retinal Sensitivity and Structure in Congenital Stationary Night Blindness: A Combined Microperimetry and OCT Study

Rodent Models of Retinal Degeneration: From Purified Cells in Culture to Living Animals

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