Female
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000554.4:c.(100+1_101-1)_(c.900+1_?)del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 120970.1.1 | United Arab Emirates | Reduced visual acuity; Peripapillary atrophy; Macular atrophy; Yellow/white lesions of the macula; Retinal pigment epithelial mottling; Cone/cone-rod dystrophy; Photophobia; Nyctalopia | Male | Yes | No | |
| 120970.1.3 | United Arab Emirates | Reduced visual acuity; Peripapillary atrophy; Yellow/white lesions of the macula; Cone/cone-rod dystrophy | Female | Yes | No | Daughter of 120970.1.1 |
| 120970.1.4 | United Arab Emirates | Reduced visual acuity; Peripapillary atrophy; Macular atrophy; Abnormality of macular pigmentation; Abnormality of retinal pigmentation; Yellow/white lesions of the macula; Retinal pigment epithelial mottling; Cone/cone-rod dystrophy; Photophobia; Nyctalopia | Female | Yes | No | Sibling of 120970.1.1 |
| 120970.1.5 | United Arab Emirates | Peripapillary atrophy; Abnormality of macular pigmentation; Abnormality of retinal pigmentation; Yellow/white lesions of the macula; Retinal pigment epithelial mottling | Male | Yes | No | Sibling of 120970.1.1 |
| 120970.1.6 | United Arab Emirates | Reduced visual acuity; Peripapillary atrophy; Macular atrophy; Abnormality of macular pigmentation; Yellow/white lesions of the macula; Retinal pigment epithelial mottling; Cone/cone-rod dystrophy | Female | Yes | No | Sibling of 120970.1.1 |
| 120970.1.7 | United Arab Emirates | Reduced visual acuity; Peripapillary atrophy; Yellow/white lesions of the macula; Retinal pigment epithelial mottling; Cone/cone-rod dystrophy | Female | Yes | No | Daughter of 120970.1.4 |