204000.5

Saudi Arabia

Visual impairment; Nystagmus; Attenuation of retinal blood vessels; Abnormality of retinal pigmentation; Undetectable electroretinogram

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001023570.4:c.1130-1G>C	2		Leber Congenital Amaurosis 1

The patient had a great-grandfather and a great-grandaunt who were similarly affected.