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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 subjectOnset ageFirst symptomAge at time of the genetic assessmentSymptoms at time of the genetic assessmentFundus examinationClinical diagnosisOther considerations
III:3 (female)22Night blindness38Night blindness; reduction of the visual fieldN.A.adRP → arRPAffected father
III:23 (male)33Decreased of visual acuity43Concentric reduction of the visual field (5° central); decreased visual acuityNarrowed vessels; bone splicule pigmentation; RPE degenerationadRP → arRPOne 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