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 7 publications

(2 citation statements)

References 324 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…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

View full text Add to dashboard Cite

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.

show abstract

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

View full text Add to dashboard Cite

show abstract

“…Early detection and accurate diagnosis of these eye problems are crucial for prevention and timely treatment, as these conditions can have a significant impact on the quality of life of affected individuals [1]. In addition, myopia, another common eye disorder, is related to genetic and environmental factors, and can lead to severe visual complications [2], [3]. In older people, eye problems often go unnoticed due to the gradual growth of symptoms [4].…”

Section: Introductionmentioning

confidence: 99%

Advances in the diagnosis of ocular diseases: an innovative approach through an expert system

Andrade-Arenas,

Yactayo-Arias

2024

Bulletin EEI

View full text Add to dashboard Cite

In the context of ophthalmic care, where early diagnosis of eye disorders plays a crucial role in patients' quality of life, this study focused on the development and evaluation of an expert system based on SWI Prolog. The main objective of this research was to provide an effective method for the preliminary diagnosis of ocular disorders, including cataract, trachoma, uveitis, glaucoma, and presbyopia. For the evaluation of the system, a confusion matrix was implemented and accuracy, sensitivity and specificity were calculated using a sample of 30 cases, of which 20 were positive and 10 negatives. The findings revealed an outstanding accuracy of 95%, with a sensitivity and specificity of 90%. This highlights the potential of the tool as an effective means of early detection of visual problems. In conclusion, this expert system represents a significant advance in ophthalmologic diagnosis, with important implications for clinical care and patients' quality of life, although expansion and validation of the tool in further clinical studies is suggested for its wider and more successful implementation in the field of ophthalmology.

show abstract

The impact of lifestyle factors on myopia development: Insights and recommendations

Ba,

2024

AJO International

View full text Add to dashboard Cite

Shedding light on myopia by studying complete congenital stationary night blindness

Cited by 7 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

Advances in the diagnosis of ocular diseases: an innovative approach through an expert system

The impact of lifestyle factors on myopia development: Insights and recommendations

Contact Info

Product

Resources

About