120970.1.5

Country

United Arab Emirates

HPO Terms

Peripapillary atrophy; Abnormality of macular pigmentation; Abnormality of retinal pigmentation; Yellow/white lesions of the macula; Retinal pigment epithelial mottling
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Sex

Male

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000554.4:c.(100+1_101-1)_(c.900+1_?)del1

Remarks

Sibling of 120970.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
120970.1.1United Arab EmiratesReduced visual acuity; Peripapillary atrophy; Macular atrophy; Yellow/white lesions of the macula; Retinal pigment epithelial mottling; Cone/cone-rod dystrophy; Photophobia; NyctalopiaMaleYesNo
120970.1.2United Arab EmiratesReduced visual acuity; Peripapillary atrophy; Yellow/white lesions of the macula; Pigmentary retinopathy; Cone/cone-rod dystrophyFemaleYesNoDaughter of 120970.1.1
120970.1.3United Arab EmiratesReduced visual acuity; Peripapillary atrophy; Yellow/white lesions of the macula; Cone/cone-rod dystrophyFemaleYesNoDaughter of 120970.1.1
120970.1.4United Arab EmiratesReduced 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; NyctalopiaFemaleYesNoSibling of 120970.1.1
120970.1.6United Arab EmiratesReduced visual acuity; Peripapillary atrophy; Macular atrophy; Abnormality of macular pigmentation; Yellow/white lesions of the macula; Retinal pigment epithelial mottling; Cone/cone-rod dystrophyFemaleYesNoSibling of 120970.1.1
120970.1.7United Arab EmiratesReduced visual acuity; Peripapillary atrophy; Yellow/white lesions of the macula; Retinal pigment epithelial mottling; Cone/cone-rod dystrophyFemaleYesNoDaughter of 120970.1.4
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