611544.3.1

Saudi Arabia

Pulverulent cataract; Reduced visual acuity

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001887.4:c.171del	2		Cataract 17, Multiple Types

Cataract surgery done at 11 years of age did not improve visual acuity. Patient had an affected brother who was not tested for the variant

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
611544.3.2	Saudi Arabia	Pulverulent cataract; Reduced visual acuity	Female	Yes	No	Sister of 611544.3.1. Patient also had "cortical riders; dull red reflex from ametropia but excellent with refractive correction".