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Table 1 Clinical characteristics of the affected individuals analyzed by WGS

From: Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants

Pedigree subject

Onset age

First symptom

Age at time of the genetic assessment

Symptoms at time of the genetic assessment

Fundus examination

Clinical diagnosis

Other considerations

III:3 (female)

22

Night blindness

38

Night blindness; reduction of the visual field

N.A.

adRP → arRP

Affected father

III:23 (male)

33

Decreased of visual acuity

43

Concentric reduction of the visual field (5° central); decreased visual acuity

Narrowed vessels; bone splicule pigmentation; RPE degeneration

adRP → arRP

One older brother with the same clinical diagnosis (III:17); one older sister with a later onset age (III:20)

  1. adRP autosomal dominant Retinitis Pigmentosa, arRP autosomal recessive Retinitis Pigmentosa, N.A. not available, RPE retinal pigment epithelium