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


SOURCES: MESH OMIM MENDELIAN

More info about MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2

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Other less relevant matches:

Low match RETINITIS PIGMENTOSA 48; RP48


Related symptoms:

  • Visual impairment
  • Rod-cone dystrophy
  • Retinal dystrophy
  • Macular degeneration


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 48; RP48

Low match RETINITIS PIGMENTOSA 42; RP42


Related symptoms:

  • Rod-cone dystrophy
  • Pallor
  • Retinal degeneration


SOURCES: OMIM MESH MENDELIAN

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


SOURCES: OMIM MENDELIAN

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


SOURCES: OMIM MENDELIAN

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


SOURCES: OMIM MENDELIAN

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


SOURCES: OMIM MENDELIAN

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
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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



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