Diseases of the eye and adnexa
Disorders of choroid and retina
Autosomal dominant Autosomal recessive
17p13.1
Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 601777.1.1 | Jordan | Female | Yes | Yes | Abnormal visual fixation; Hypermetropia;... Abnormal visual fixation; Hypermetropia; Optic disc pallor; Cone dystrophy  | NM_000180.4:c.2563C>T | Homozygous | Autosomal, Recessive | Makrythanasis et al. 2014 | |
| 601777.1.2 | Jordan | Female | Yes | Yes | Abnormal visual fixation; Hypermetropia;... Abnormal visual fixation; Hypermetropia; Optic disc pallor; Cone dystrophy | NM_000180.4:c.2563C>T | Homozygous | Autosomal, Recessive | Makrythanasis et al. 2014 | Sister of 601777.1.1 |