Table 1 Summary of Clinical and Genetic Features of Individuals with L-ORD.

From: Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration

Family

Sample ID

Genotype

Protein

Status

Age of onset

Dark adaptation delay

Fundus appearance

drusenoid deposits

RPE atrophy

macular degeneration

1

IV:I

Heterozygous c.646G>T

p.G216C

Affected

late 50s

yes

yes

yes

yes

IV:II

Heterozygous c.646G>T

p.G216C

Affected

early 50s

yes

yes

yes

yes

V:I

Heterozygous c.646G>T

p.G216C

Affected

mid-60s

yes

yes

yes

yes

V:III

Heterozygous c.646G>T

p.G216C

Affected

late 50s

yes

yes

yes

yes

V:VI

Heterozygous c.646G>T

p.G216C

Affected

mid-60s

yes

yes

no

no

V:VII

Heterozygous c.646G>T

p.G216C

Affected

mid-60s

yes

yes

no

no

2

II:I

Heterozygous c.562C>A

p.P188T

Affected

mid-40s

yes

yes

yes

yes

II:II

Heterozygous c.562C>A

p.P188T

Affected

mid-60s

yes

yes

yes

yes

II:III

Heterozygous c.562C>A

p.P188T

Affected

late 50s

yes

yes

no

no

3

III:I

Heterozygous c.489C>A

p.S163R

Affected

mid-60s

yes

yes

yes

yes