Presentation of <i>TRPM1</i>-Associated Congenital Stationary Night Blindness in Children

Utz, Virginia Miraldi; Pfeifer, Wanda; Longmuir, Susannah Q.; Olson, Randall J.; Wang, Kai; Drack, Arlene V.

doi:10.1001/jamaophthalmol.2018.0185

Cited by 37 publications

(20 citation statements)

References 60 publications

(147 reference statements)

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“…Strabismus has in several cases been successfully treated by vision therapy or surgery. Notably, the clinical findings of our patients are consistent with a recently described large cohort of TRPM1 -associated CSNB in children 15 .…”

Section: Discussionsupporting

confidence: 91%

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews

Hirsch¹,

Zeevi

Lam

et al. 2019

Hum Genome Var

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Congenital stationary night blindness (CSNB) is a disease affecting the night vision of individuals. Previous studies identified TRPM1 as a gene involved in reduced night vision. Homozygous deletion of TRPM1 was the cause of CSNB in several children in 6 Ashkenazi Jewish families, thereby prompting further investigation of the carrier status within the families as well as in large cohorts of unrelated Ashkenazi and Sephardi individuals. Affected children were tested with a CSNB next-generation (NextGen) sequencing panel. A deletion of TRPM1 exons 2 through 7 was detected and confirmed by PCR and sequence analysis. A TaqMan-based assay was used to assess the frequency of this deletion in 18266 individuals of Jewish descent. High-throughput amplicon sequencing was performed on 380 samples to determine the putative deletion-flanking founder haplotype. Heterozygous TRPM1 deletions were found in 2.75% (1/36) of Ashkenazi subjects and in 1.22% (1/82) individuals of mixed Ashkenazi/Sephardic origin. The homozygous deletion frequency in our data was 0.03% (1/4025) and was only found in Ashkenazi Jewish individuals. Homozygous deletion of exons 2–7 in TRPM1 is a common cause of CSNB and myopia in many Ashkenazi Jewish patients. This deletion is a founder Ashkenazi Jewish deletion.

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Section: Discussionsupporting

confidence: 91%

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews

Hirsch¹,

Zeevi

Lam

et al. 2019

Hum Genome Var

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“…Visual symptoms primarily include night blindness with decreased visual acuity, refractive errors, nystagmus, or strabismus [ 3 ]. A recent study suggested that children with CSNB may present without complaints of night blindness [ 4 ]. In addition, these symptoms can overlap with other progressive IRDs, such as cone–rod dystrophies; thus, accurate diagnosis is essential to predict future visual outcomes.…”

Section: Introductionmentioning

confidence: 99%

“…Studies have found that Riggs type patients present relatively mild visual symptoms, such as restricted night blindness but normal photopic visual acuity, slight myopia, and no nystagmus [ 3 ]. The complete form of the Schubert–Bornschein type involves some notable pathogenic genes, such as X-linked recessive NYX (leucine-rich proteoglycan nyctalopin) [ 18 , 19 , 20 ], autosomal recessive GRM6 [ 21 , 22 ], TRPM1 [ 4 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 ], GPR179 [ 31 , 32 ], and LRIT3 [ 33 ], affecting signal transduction in the selective rod ON bipolar cell postsynaptic signal loss pathway. Typically, these complete type patients show moderate visual symptoms, including decreased visual acuity and high myopia.…”

Section: Introductionmentioning

confidence: 99%

Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients

Kim

Joo

Han

et al. 2021

Genes

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In this study, we investigated the clinical and genetic characteristics of 19 Korean patients with congenital stationary night blindness (CSNB) at two tertiary hospitals. Clinical evaluations, including fundus photography, spectral-domain optical coherence tomography, and electroretinography, were performed. Genetic analyses were conducted using targeted panel sequencing or whole exome sequencing. The median age was 5 (3–21) years at the initial examination, 2 (1–8) years at symptom onset, and 11 (5–28) years during the final visit. Genetic mutations were identified as CNGB1 and GNAT1 for the Riggs type (n = 2), TRPM1 and NYX for the complete type (n = 3), and CACNA1F (n = 14) for the incomplete type. Three novel variants were identified, and best-corrected visual acuity (BCVA) and spherical equivalents (SE) were related to each type of CSNB. The Riggs and TRPM1 complete types presented mild myopia and good BCVA without strabismus and nystagmus, whereas the NYX complete and incomplete types showed mixed SE and poor BCVA with strabismus and nystagmus. This is the first case series of Korean patients with CSNB, and further studies with a larger number of subjects should be conducted to correlate the clinical and genetic aspects of CSNB.

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“…The manifestation of the disease may include loss of night vision and decreased visual field, eventually progressing to blindness. CSNB is a group of heterogeneous genetic disorders of the retina that manifest as non-progressive nyctalopia [ 124 ]. Finally, AMD is a complex disease that exhibits several different pathological mechanisms including degeneration of photoreceptors and RPE cells causing visual impairment [ 125 ].…”

Section: Polyphenols Effects In Retinal Degenerative Diseasesmentioning

confidence: 99%

Polyphenols and Visual Health: Potential Effects on Degenerative Retinal Diseases

2021

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Dietary polyphenols are a group of natural compounds that have been proposed to have beneficial effects on human health. They were first known for their antioxidant properties, but several studies over the years have shown that these compounds can exert protective effects against chronic diseases. Nonetheless, the mechanisms underlying these potential benefits are still uncertain and contradictory effects have been reported. In this review, we analyze the potential effects of polyphenol compounds on some visual diseases, with a special focus on retinal degenerative diseases. Current effective therapies for the treatment of such retinal diseases are lacking and new strategies need to be developed. For this reason, there is currently a renewed interest in finding novel ligands (or known ligands with previously unexpected features) that could bind to retinal photoreceptors and modulate their molecular properties. Some polyphenols, especially flavonoids (e.g., quercetin and tannic acid), could attenuate light-induced receptor damage and promote visual health benefits. Recent evidence suggests that certain flavonoids could help stabilize the correctly folded conformation of the visual photoreceptor protein rhodopsin and offset the deleterious effect of retinitis pigmentosa mutations. In this regard, certain polyphenols, like the flavonoids mentioned before, have been shown to improve the stability, expression, regeneration and folding of rhodopsin mutants in experimental in vitro studies. Moreover, these compounds appear to improve the integration of the receptor into the cell membrane while acting against oxidative stress at the same time. We anticipate that polyphenol compounds can be used to target visual photoreceptor proteins, such as rhodopsin, in a way that has only been recently proposed and that these can be used in novel approaches for the treatment of retinal degenerative diseases like retinitis pigmentosa; however, studies in this field are limited and further research is needed in order to properly characterize the effects of these compounds on retinal degenerative diseases through the proposed mechanisms.

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Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children

Cited by 37 publications

References 60 publications

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews

Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients

Polyphenols and Visual Health: Potential Effects on Degenerative Retinal Diseases

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