MedGen for Gene (Select 6010) - MedGen

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Items: 3

Select item 4623511.

Retinitis pigmentosa 4

Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene. [from MONDO]

MedGen UID:: 462351
•Concept ID:: C3151001
•: Disease or Syndrome

Select item 3558522.

Congenital stationary night blindness autosomal dominant 1

Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene. [from MONDO]

MedGen UID:: 355852
•Concept ID:: C1864869
•: Disease or Syndrome

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OMIM
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Select item 863173.

Pigmentary retinal dystrophy

This form of fleck retina disease (see 228980) is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. Night blindness occurs. Both autosomal dominant and autosomal recessive inheritance had been suggested (Krill and Folk, 1962; Krill, 1977). [from OMIM]