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.
MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2 Is also known as maculopathy, age-related, 2|macular degeneration, senile
Related symptoms:
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:
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:
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 |
Patients with Abnormality of the skeletal system and Retinal degeneration. may also develop some of the following symptoms:
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