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Items: 3

1.

Choroideremia

Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in carrier females. Typically, symptoms in affected males evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Although carrier females are generally asymptomatic, signs of chorioretinal degeneration can be observed with careful fundus examination. These signs become more readily apparent after the second decade. [from GeneReviews]

MedGen UID:
944
Concept ID:
C0008525
Disease or Syndrome
2.

Choroideremia

MedGen UID:
504743
Concept ID:
CN001071
Finding
3.

Cone dysfunction syndrome

Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia. [from HPO]

MedGen UID:
850784
Concept ID:
C0543968
Disease or Syndrome
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