Abnormality of the skeletal system, and Retinal degeneration
Diseases related with Abnormality of the skeletal system and Retinal degeneration
In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Retinal degeneration that can help you solving undiagnosed cases.
Top matches:
Low match MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2
MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2 Is also known as maculopathy, age-related, 2|macular degeneration, senile
Related symptoms:
- Macular degeneration
More info about MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2
Low match MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4
Related symptoms:
- Macular degeneration
More info about MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4
Low match MACULAR DEGENERATION, AGE-RELATED, 6; ARMD6
Related symptoms:
- Macular degeneration
More info about MACULAR DEGENERATION, AGE-RELATED, 6; ARMD6
Too many results?
We can help you with your rare disease diagnosis.
Other less relevant matches:
Low match MACULAR DEGENERATION, AGE-RELATED, 11; ARMD11
Related symptoms:
- Macular degeneration
More info about MACULAR DEGENERATION, AGE-RELATED, 11; ARMD11
Low match RETINITIS PIGMENTOSA 48; RP48
Related symptoms:
- Visual impairment
- Rod-cone dystrophy
- Retinal dystrophy
- Macular degeneration
More info about RETINITIS PIGMENTOSA 48; RP48
Low match RETINITIS PIGMENTOSA 42; RP42
Related symptoms:
- Rod-cone dystrophy
- Pallor
- Retinal degeneration
More info about RETINITIS PIGMENTOSA 42; RP42
Low match RETINITIS PIGMENTOSA 67; RP67
Retinitis pigmentosa (RP) is the name given to a group of hereditary retinal conditions in which degeneration of rod photoreceptors, responsible for vision under dark conditions, is more pronounced than that of cone photoreceptors, which mediate daylight vision. Individuals with RP typically experience night blindness at first, followed by progressive and unstoppable visual impairment in daytime conditions as well. Their visual fields become reduced gradually and sight is lost from the midperiphery to the periphery, then from the midperiphery to the center, resulting eventually in complete or near-complete blindness if left untreated. Most patients show intraretinal pigment in a bone-spicule configuration around the fundus periphery as well as retinal arteriolar attenuation, elevated final dark-adapted thresholds, and reduced and delayed electroretinograms. Autosomal recessive RP is the most common form of hereditary retinal degeneration in humans (summary by Nishiguchi et al., 2013).For a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.
Related symptoms:
- Visual impairment
- Blindness
- Rod-cone dystrophy
- Nyctalopia
- Retinal degeneration
More info about RETINITIS PIGMENTOSA 67; RP67
Low match MACULAR DEGENERATION, AGE-RELATED, 8; ARMD8
Age-related macular degeneration (ARMD) is a common complex disorder that affects the central region of the retina (macula) and is the leading cause of legal blindness in white Americans over age 65. Contributions of environmental factors and genetic susceptibility have been identified. The strongest nongenetic risk factor for ARMD is cigarette smoking.For a general phenotypic description and a discussion of genetic heterogeneity of ARMD, see {603075}.
Related symptoms:
- Blindness
- Macular degeneration
More info about MACULAR DEGENERATION, AGE-RELATED, 8; ARMD8
Low match MACULAR DEGENERATION, X-LINKED ATROPHIC
Related symptoms:
- Visual impairment
- Reduced visual acuity
- Progressive visual loss
- Macular degeneration
- Macular atrophy
More info about MACULAR DEGENERATION, X-LINKED ATROPHIC
Low match RETINITIS PIGMENTOSA 68; RP68
Related symptoms:
- Blindness
- Rod-cone dystrophy
- Nyctalopia
- Visual field defect
- Retinal atrophy
More info about RETINITIS PIGMENTOSA 68; RP68
Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Retinal degeneration
| Symptoms // Phenotype | % cases |
|---|---|
| Macular degeneration | Common - Between 50% and 80% cases |
| Rod-cone dystrophy | Uncommon - Between 30% and 50% cases |
| Visual impairment | Uncommon - Between 30% and 50% cases |
| Blindness | Uncommon - Between 30% and 50% cases |
| Nyctalopia | Rare - less than 30% cases |
Accelerate your rare disease diagnosis with us
Other less frequent symptoms
Patients with Abnormality of the skeletal system and Retinal degeneration. may also develop some of the following symptoms:
Rare Symptoms - Less than 30% cases
Retinal dystrophy Pallor Reduced visual acuity Progressive visual loss Macular atrophy Visual field defect Retinal atrophy
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Diabetes mellitus, related diseases and genetic alterations
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
