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DIFFUSE RETINAL VASCULAR LEAKAGE AND CONE-ROD DYSTROPHY IN A FAMILY WITH THE HOMOZYGOUS MISSENSE C.1429G>A (P.GLY477ARG) MUTATION IN CRB1

Alsulaiman, Hamad M. ; Schatz, Patrik LU orcid ; Nowilaty, Sawsan R. ; Abdelkader, Ehab and Abu Safieh, Leen (2020) In Retinal Cases & Brief Reports 14(2). p.203-210
Abstract

PURPOSE: To describe a specific cone-rod dystrophy phenotype in a family with the homozygous c.1429G>A; p.Gly477Arg mutation in CRB1. The detailed phenotype of subjects with this specific mutation has not been described previously. METHODS: Clinical examination included full-field electroretinography and high-resolution and widefield retinal imaging and uveitis workup. Molecular genetic analysis included next-generation sequencing of known retinal dystrophy genes and Sanger sequencing for segregation analysis. RESULTS: Three affected male siblings (26, 16, and 8 years old) were diagnosed with cone-rod dystrophy, featuring bilateral macular hypoautofluorescent lesions. In addition, the eldest brother was found to have retinal vascular... (More)

PURPOSE: To describe a specific cone-rod dystrophy phenotype in a family with the homozygous c.1429G>A; p.Gly477Arg mutation in CRB1. The detailed phenotype of subjects with this specific mutation has not been described previously. METHODS: Clinical examination included full-field electroretinography and high-resolution and widefield retinal imaging and uveitis workup. Molecular genetic analysis included next-generation sequencing of known retinal dystrophy genes and Sanger sequencing for segregation analysis. RESULTS: Three affected male siblings (26, 16, and 8 years old) were diagnosed with cone-rod dystrophy, featuring bilateral macular hypoautofluorescent lesions. In addition, the eldest brother was found to have retinal vascular leakage throughout the retina without telangiectasia. Uveitis laboratory workup was unremarkable. The homozygous c.1429G>A; p.Gly477Arg mutation in CRB1 was found to segregate with disease in this family. CONCLUSION: To the best of our knowledge, diffuse vascular leakage without telangiectasia or exudation, with bull's eye maculopathy, has not been reported previously in CRB1-cone rod dystrophy. This expands the phenotype complexity associated with CRB1 mutations and confirms that dystrophies associated with mutations in this gene may appear with features of uveitis.

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; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Retinal Cases & Brief Reports
volume
14
issue
2
pages
8 pages
publisher
Lippincott Williams & Wilkins
external identifiers
  • scopus:85072062152
  • pmid:29200130
ISSN
1935-1089
DOI
10.1097/ICB.0000000000000654
language
English
LU publication?
yes
id
16aea088-025a-4b30-861e-6996d49c503e
date added to LUP
2021-01-05 11:25:19
date last changed
2024-05-30 02:39:54
@article{16aea088-025a-4b30-861e-6996d49c503e,
  abstract     = {{<p>PURPOSE: To describe a specific cone-rod dystrophy phenotype in a family with the homozygous c.1429G&gt;A; p.Gly477Arg mutation in CRB1. The detailed phenotype of subjects with this specific mutation has not been described previously. METHODS: Clinical examination included full-field electroretinography and high-resolution and widefield retinal imaging and uveitis workup. Molecular genetic analysis included next-generation sequencing of known retinal dystrophy genes and Sanger sequencing for segregation analysis. RESULTS: Three affected male siblings (26, 16, and 8 years old) were diagnosed with cone-rod dystrophy, featuring bilateral macular hypoautofluorescent lesions. In addition, the eldest brother was found to have retinal vascular leakage throughout the retina without telangiectasia. Uveitis laboratory workup was unremarkable. The homozygous c.1429G&gt;A; p.Gly477Arg mutation in CRB1 was found to segregate with disease in this family. CONCLUSION: To the best of our knowledge, diffuse vascular leakage without telangiectasia or exudation, with bull's eye maculopathy, has not been reported previously in CRB1-cone rod dystrophy. This expands the phenotype complexity associated with CRB1 mutations and confirms that dystrophies associated with mutations in this gene may appear with features of uveitis.</p>}},
  author       = {{Alsulaiman, Hamad M. and Schatz, Patrik and Nowilaty, Sawsan R. and Abdelkader, Ehab and Abu Safieh, Leen}},
  issn         = {{1935-1089}},
  language     = {{eng}},
  number       = {{2}},
  pages        = {{203--210}},
  publisher    = {{Lippincott Williams & Wilkins}},
  series       = {{Retinal Cases & Brief Reports}},
  title        = {{DIFFUSE RETINAL VASCULAR LEAKAGE AND CONE-ROD DYSTROPHY IN A FAMILY WITH THE HOMOZYGOUS MISSENSE C.1429G>A (P.GLY477ARG) MUTATION IN CRB1}},
  url          = {{http://dx.doi.org/10.1097/ICB.0000000000000654}},
  doi          = {{10.1097/ICB.0000000000000654}},
  volume       = {{14}},
  year         = {{2020}},
}