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RP84
MCID: RTN218
MIFTS: 16
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Retinitis Pigmentosa 84 (RP84)
Categories:
Eye diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Retinitis Pigmentosa 84:Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
age of onset between 3-4 years onset of blindness between 7-8 years Classifications: |
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UniProtKB/Swiss-Prot
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76
Retinitis pigmentosa 84: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP84 is an autosomal recessive, early onset form characterized by night blindness by age 4 and complete blindness by age 8. Funduscopy shows severely attenuated retinal vessels, severe macular atrophy, and prominent and deep macular colobomas lacking neuroretinal tissue.
MalaCards based summary : Retinitis Pigmentosa 84, is also known as rp84. An important gene associated with Retinitis Pigmentosa 84 is DHX38 (DEAH-Box Helicase 38).
Description from OMIM:
618220
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ClinVar genetic disease variations for Retinitis Pigmentosa 84:6
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Search
GEO
for disease gene expression data for Retinitis Pigmentosa 84.
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