OPN1LW gene related symptoms and diseases
All the information presented here about the OPN1LW gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to OPN1LW gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Abnormality of retinal pigmentation | Common - Between 50% and 80% cases |
| Photophobia | Common - Between 50% and 80% cases |
| Abnormality of color vision | Common - Between 50% and 80% cases |
| Visual impairment | Common - Between 50% and 80% cases |
| Nystagmus | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with OPN1LW gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Progressive cone degeneration
- Deuteranopia
- Deuteranomaly
- Protanomaly
- Protanopia
- Neurofibromas
- Retinal degeneration
- Nyctalopia
And 15 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to OPN1LW gene
Here you will find a list of rare diseases related to the OPN1LW. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BLUE CONE MONOCHROMATISM
Alternate names
BLUE CONE MONOCHROMATISM Is also known as s cone monochromatism, x-linked incomplete achromatopsia, blue cone monochromatism, color blindness, blue monocone monochromatic type, blue cone monochromacy, colorblindness, blue-mono-cone-monochromatic type, cbbm, s cone monochromacy, atypical x-linked achromat
Description
Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term).
Most common symptoms of BLUE CONE MONOCHROMATISM
- Nystagmus
- Visual impairment
- Myopia
- Reduced visual acuity
- Photophobia
More info about BLUE CONE MONOCHROMATISM
CONE ROD DYSTROPHY
Alternate names
CONE ROD DYSTROPHY Is also known as human retinal gene 4, hrg4
Description
Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies.
Most common symptoms of CONE ROD DYSTROPHY
- Visual impairment
- Photophobia
- Nyctalopia
- Retinal degeneration
- Abnormality of retinal pigmentation
More info about CONE ROD DYSTROPHY
COLORBLINDNESS, PARTIAL, PROTAN SERIES; CBP
Alternate names
COLORBLINDNESS, PARTIAL, PROTAN SERIES; CBP Is also known as red colorblindness, protanopia
Description
Normal color vision in humans is trichromatic, being based on 3 classes of cone that are maximally sensitive to light at approximately 420 nm (blue cones; {613522}), 530 nm (green cones; {300821}), and 560 nm (red cones; {300822}). Comparison by neural circuits of light absorption by the 3 classes of cone photoreceptors allows perception of red, yellow, green, and blue colors individually or in various combinations. Dichromatic color vision is severely defective color vision based on the use of only 2 types of photoreceptors, blue plus green (protanopia) or blue plus red (deuteranopia; see {303800}). Anomalous trichromacy is trichromatic color vision based on a blue, green, and an anomalous red-like photoreceptor (protanomaly), or a blue, red, and an anomalous green-like photoreceptor (deuteranomaly). The color vision defect is generally mild but may in certain cases be severe. Common variation in red-green color vision exists among both normal and color-deficient individuals (review by Deeb, 2005).
Most common symptoms of COLORBLINDNESS, PARTIAL, PROTAN SERIES; CBP
- Abnormality of color vision
- Protanopia
- Protanomaly
- Deuteranomaly
- Deuteranopia
More info about COLORBLINDNESS, PARTIAL, PROTAN SERIES; CBP
SOURCES: OMIM
Search interest in OPN1LW
Potential gene panels for OPN1LW gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
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 United States.
Blue Cone Monochromacy Panel Panel
United States.
By Molecular Vision Laboratory Blue Cone Monochromacy Panel that also includes the following genes: OPN1MW OPN1LW
More info about this panel United States.
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 United States.
OPN1LW Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the OPN1LW gene.
More info about this panel United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FUCA1 DCTN1 COL2A1 PAH POGZ PRKG1 ALAD