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Table 5 Association of crumbs cell polarity complex component 1 (CRB1) mutation types with retinal and clinical characteristics

From: Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis

CRB1

Fundus characteristics

BCVA OU

IRDs

Mutation types

Macular Condition (Xi2 = 65, P = 0.026)

Macular pigmentation (Xi2 = 44, P = 0.01)

Optic Disc (Xi2 = 63, P < 0.001)

Periphery pigmentation (Xi2 = 33, P = 0.034))

(LogMar, P = 0.001)

(Xi2 = 41, P = 0.001)

 

Atrophy

Absence

Pale

Presence

Relative risk

RCD

LCA

Homozygous Missense

 

56 (49%)

18 (46%)

38 (63%)

1.4

88 (60%)

59 (40%)

Missense; Nonsense

   

15 (79%)

1.7

12 (37%)

20 (63%)

Missense; Indel

13 (65%)

12 (43%)

6 (67%)

 

1.5

9 (28%)

23 (72%)

Homozygous Nonsense

 

14 (50%)

 

14 (78%)

2.7

3 (10%)

28 (90%)

  1. The relative risk was calculated using a logistic binary model with BCVA OU as the dependent variable and the CRB1 mutation types as independent
  2. BCVA: Best Corrected Visual Acuity, OU: Oculus Uterque, IRDs: inherited retinal diseases, Xi2: Chi-square independent test, RCD: Rod Cone Dystrophy, H: H Kruskal Wallis, LCA: Leber congenital amaurosis
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BMC Ophthalmology

ISSN: 1471-2415

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