PMID- 29219953
OWN - NLM
STAT- MEDLINE
DCOM- 20181109
LR  - 20190301
IS  - 1476-5454 (Electronic)
IS  - 0950-222X (Print)
IS  - 0950-222X (Linking)
VI  - 32
IP  - 3
DP  - 2018 Mar
TI  - Specific retinal phenotype in early IQCB1-related disease.
PG  - 646-651
LID - 10.1038/eye.2017.283 [doi]
AB  - PurposeTo describe the ocular and systemic phenotype in IQCB1-related 
      disease.MethodsFour cases (3 males, 1 female) with molecularly confirmed 
      IQCB1-related disease underwent ophthalmological examination including 
      best-corrected visual acuity (BCVA) measurement, fundus evaluation, 
      electroretinography (ERG), and spectral-domain optical coherence tomography 
      (SD-OCT). Systemic evaluation including abdominal ultrasound was performed in all 
      cases.ResultsBCVA ranged from perception of light (Case-2; 1 year) to 20/125 
      (Case-1; 9 years). Fundus evaluation showed whitish or silvery reflex outside the 
      vascular arcades in all cases; the reflex was circumferential, irregular and 
      covered at-least 6 clock hours at younger ages (3 cases; 1-4 years). The reflex 
      was less conspicuous with increasing age (Case-1 (9 years) and Case-4 (20 
      years)). The peripheral retinal SD-OCT scans showed evidence of extensive 
      deposition at the level of retinal pigment epithelium with complete absence of 
      overlying photoreceptor outer segments and myoid zone. The ERG was non-detectable 
      in all cases. All cases harbored biallelic nonsense (p.R364*, p. R455*) or 
      frameshifting (p.M370Yfs*49, p.C253Afs*9) mutations in IQCB1. Case-1 additionally 
      had developmental delay, hemi-hyperplasia, toe syndactyly, and kidney 
      cysts.ConclusionIQCB1-related syndromic or non-syndromic Leber congenital 
      amaurosis (LCA) carries unique retinal characteristics which helps differentiate 
      IQCB1-retinopathy from other genetic forms of LCA in childhood.
FAU - Vincent, A
AU  - Vincent A
AD  - Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, 
      Toronto, ON, Canada.
AD  - Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, 
      ON, Canada.
AD  - Program of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, 
      ON, Canada.
FAU - AlAli, A
AU  - AlAli A
AD  - Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, 
      Toronto, ON, Canada.
AD  - Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, 
      ON, Canada.
FAU - MacDonald, H
AU  - MacDonald H
AD  - Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, 
      Toronto, ON, Canada.
AD  - Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
AD  - Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 
      Toronto, ON, Canada.
FAU - VandenHoven, C
AU  - VandenHoven C
AD  - Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, 
      Toronto, ON, Canada.
FAU - Heon, E
AU  - Heon E
AD  - Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, 
      Toronto, ON, Canada.
AD  - Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, 
      ON, Canada.
AD  - Program of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, 
      ON, Canada.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20171208
PL  - England
TA  - Eye (Lond)
JT  - Eye (London, England)
JID - 8703986
RN  - 0 (Calmodulin-Binding Proteins)
RN  - 0 (IQCB1 protein, human)
SB  - IM
MH  - Calmodulin-Binding Proteins/*genetics
MH  - Child, Preschool
MH  - Electroretinography
MH  - Female
MH  - Fundus Oculi
MH  - Humans
MH  - Infant
MH  - Male
MH  - Mutation
MH  - Photoreceptor Cells, Vertebrate/pathology
MH  - *Retinal Diseases/genetics/pathology/physiopathology
MH  - Retinal Pigment Epithelium/pathology
MH  - Tomography, Optical Coherence/methods
MH  - Visual Acuity/physiology
MH  - Young Adult
PMC - PMC5848295
COIS- The authors declare no conflict of interest.
EDAT- 2017/12/09 06:00
MHDA- 2018/11/10 06:00
PMCR- 2019/03/01
CRDT- 2017/12/09 06:00
PHST- 2017/06/16 00:00 [received]
PHST- 2017/10/21 00:00 [accepted]
PHST- 2017/12/09 06:00 [pubmed]
PHST- 2018/11/10 06:00 [medline]
PHST- 2017/12/09 06:00 [entrez]
PHST- 2019/03/01 00:00 [pmc-release]
AID - eye2017283 [pii]
AID - 10.1038/eye.2017.283 [doi]
PST - ppublish
SO  - Eye (Lond). 2018 Mar;32(3):646-651. doi: 10.1038/eye.2017.283. Epub 2017 Dec 8.