LRIT3 gene related symptoms and diseases

All the information presented here about the LRIT3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LRIT3 gene

Symptoms // Phenotype % Cases
Strabismus Very Common - Between 80% and 100% cases
Blindness Very Common - Between 80% and 100% cases
Reduced visual acuity Very Common - Between 80% and 100% cases
Nyctalopia Very Common - Between 80% and 100% cases
High myopia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with LRIT3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Congenital stationary night blindness
  • Complete congenital stationary night blindness
  • Myopia
  • Not very common - Between 30% and 50% cases

  • Optic disc hypoplasia
  • Moderate myopia
  • Hypertropia
  • Abnormal fundus morphology
  • Monochromacy

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LRIT3 gene

Here you will find a list of rare diseases related to the LRIT3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F; CSNB1F


Most common symptoms of NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F; CSNB1F

  • Strabismus
  • Myopia
  • Blindness
  • Reduced visual acuity
  • Nyctalopia


More info about NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F; CSNB1F

SOURCES: OMIM

CONGENITAL STATIONARY NIGHT BLINDNESS


Alternate names

CONGENITAL STATIONARY NIGHT BLINDNESS Is also known as hemeralopia-myopia, myopia-night blindness, night blindness, congenital stationary, with myopia, csnb, complete, x-linked, nbm1, congenital essential nyctalopia

Description

Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.

Most common symptoms of CONGENITAL STATIONARY NIGHT BLINDNESS

  • Nystagmus
  • Strabismus
  • Myopia
  • Blindness
  • Reduced visual acuity


More info about CONGENITAL STATIONARY NIGHT BLINDNESS

SOURCES: ORPHANET OMIM


Potential gene panels for LRIT3 gene

Congenital Stationary Night Blindness Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Stationary Night Blindness Panel that also includes the following genes: RHO GRK1 SAG SLC24A1 CABP4 CACNA1F LRIT3 GPR179 GNAT1 GNB3

More info about this panel

LRIT3 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the LRIT3 gene.

More info about this panel

Night blindness, congenital stationary (NGS panel of 13 genes) Panel

Portugal.

By CGC Genetics Night blindness, congenital stationary (NGS panel of 13 genes) that also includes the following genes: RHO GRK1 SAG SLC24A1 CACNA1F LRIT3 GPR179 GNAT1 GNB3 GRM6

More info about this panel

Night blindness, congenital stationary (NGS panel of 13 genes) Panel

Portugal.

By CGC Genetics Night blindness, congenital stationary (NGS panel of 13 genes) that also includes the following genes: RHO GRK1 SAG SLC24A1 CACNA1F LRIT3 GPR179 GNAT1 GNB3 GRM6

More info about this panel

Congenital Stationary Night Blindness Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Stationary Night Blindness Sequencing Panel with CNV Detection that also includes the following genes: RHO GRK1 RPE65 SAG SLC24A1 CABP4 CACNA1F CHM CACNA2D4 LRIT3

More info about this panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Congenital Stationary Night Blindness via LRIT3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the LRIT3 gene.

More info about this panel

Congenital Stationary Night Blindness Panel Panel

Germany.

By CeGaT GmbH Congenital Stationary Night Blindness Panel that also includes the following genes: RHO GRK1 SAG SLC24A1 CABP4 CACNA1F CACNA2D4 LRIT3 GPR179 GNAT1

More info about this panel

Retinal Dystrophy Panel Panel

United States.

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Congenital Stationary Night Blindness panel Panel

United States.

By Molecular Vision Laboratory Congenital Stationary Night Blindness panel that also includes the following genes: RHO GRK1 SAG SLC24A1 CABP4 CACNA1F LRIT3 GPR179 GNAT1 GRM6

More info about this panel

MVL Vision Panel Panel

United States.

By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Eye Disorders: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

Congenital Stationary Night Blindness: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Stationary Night Blindness: Sequencing Panel that also includes the following genes: RHO SAG SLC24A1 CABP4 CACNA1F CACNA2D4 LRIT3 GPR179 GNAT1 GRM6

More info about this panel

Retina/Photoreceptor Dystrophy: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retina/Photoreceptor Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4

More info about this panel

Congenital Stationary Night Blindness: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Stationary Night Blindness: Deletion/Duplication Panel that also includes the following genes: RHO SAG SLC24A1 CABP4 CACNA1F CACNA2D4 LRIT3 GPR179 GNAT1 GRM6

More info about this panel

Eye Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

LRIT3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LRIT3 gene.

More info about this panel

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

More info about this panel

Congenital Stationary Night Blindness Panel Panel

Finland.

By Blueprint Genetics Congenital Stationary Night Blindness Panel that also includes the following genes: RHO GRK1 RLBP1 RPE65 SAG CABP4 CACNA1F CACNA2D4 CYP4V2 LRIT3

More info about this panel

NIGHT BLINDNESS, CONGENITAL STATIONARY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL NIGHT BLINDNESS, CONGENITAL STATIONARY NGS PANEL that also includes the following genes: RHO GRK1 SAG SLC24A1 CABP4 CACNA1F CACNA2D4 LRIT3 GPR179 GNAT1

More info about this panel


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