Peripheral cone dystrophy- MedGen UID:
- 323031
- •Concept ID:
- C1836946
- •
- Disease or Syndrome
Retinitis pigmentosa 2- MedGen UID:
- 394544
- •Concept ID:
- C2681923
- •
- Disease or Syndrome
Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population (Boughman et al., 1980).
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Cone-rod dystrophy 24- MedGen UID:
- 1841082
- •Concept ID:
- C5830446
- •
- Disease or Syndrome
Cone-rod dystrophy-24 (CORD24) is characterized by night blindness, defective color vision, and reduced visual acuity. Macular atrophy, macular pigmentation deposits, and drusen-like deposits in the macula have been observed. Age at onset varies widely, from the first to the sixth decades of live (Kobayashi et al., 2000; Huang et al., 2013; Zenteno et al., 2023).
For a general phenotypic description and discussion of genetic heterogeneity of CORD, see CORD2 (120970).