Table 2 Genetic characterization of the patient cohort sub-divided by mode of inheritance.

From: Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance

Mode of Inheritance

N

Genes with disease-causing variants (N)

arRP

53

USH2A (15)*, PDE6β (6), EYS (5), PDE6α (4), CDHR1 (2), CNGB1 (2), DHDDS (2), KIZ (2), MAK (2), MERTK (2), MYO7A (2)*, C21ORF2 (1), CERKL (1), FAM161A (1), GPR98 (1)*, IFT140 (1), NPHP1 (1), REEP6 (1), SPATA7 (1), TULP1 (1)

adRP

35

RHO (13), RP1 (9), PRPF31 (4), KLHL7 (3), IMPDH1 (2), GUCA1B (1), NRL (1), PRPF8 (1), PRPH2 (1)

XLRP

8

RPGR (8)

  1. N = number; RP = retinitis pigmentosa; arRP = autosomal recessive; adRP = autosomal dominant; XLRP = X-linked recessive. * denotes patients with syndromic arRP: 2 patients presented with Usher syndrome type 1 caused by MYO7A and 4 with Usher syndrome type 2 caused by USH2A (3) and GPR98 (1).
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