Genotype-phenotype Correlations, and Retinal Function and Structure in von Hippel-Lindau Disease.
(2014) In Ophthalmic Genetics 35(2). p.91-106- Abstract
- Abstract Purpose: To investigate genotype-phenotype correlation and to analyze functional and structural changes in the retina of patients with von Hippel-Lindau (VHL) disease. Methods: Thirteen patients from four families (A, B, C and D) with known VHL disease and known mutations in the VHL gene were examined. All patients underwent clinical examination and optical coherence tomography (OCT). Full-field electroretinography (full-field ERG) was performed in twelve patients. Results: Family A, with deletion of exon 3 in the VHL gene, and family B, with the missense mutation p.R79P, exhibited type 1 VHL characterized by the absence of pheochromocytoma and a high incidence of central nervous system hemangioblastomas. One member of family B... (More)
- Abstract Purpose: To investigate genotype-phenotype correlation and to analyze functional and structural changes in the retina of patients with von Hippel-Lindau (VHL) disease. Methods: Thirteen patients from four families (A, B, C and D) with known VHL disease and known mutations in the VHL gene were examined. All patients underwent clinical examination and optical coherence tomography (OCT). Full-field electroretinography (full-field ERG) was performed in twelve patients. Results: Family A, with deletion of exon 3 in the VHL gene, and family B, with the missense mutation p.R79P, exhibited type 1 VHL characterized by the absence of pheochromocytoma and a high incidence of central nervous system hemangioblastomas. One member of family B exhibited Goldenhar syndrome. A novel missense mutation (p.L198P) was identified in the VHL gene in the patient from family C. This p.L198P mutation caused a phenotype with early onset of a neuroendocrine tumor of the pancreas, bilateral pheochromocytomas, and optic nerve hemangioblastoma. Full-field ERG showed significantly prolonged implicit times of the b-wave and maximal combined a-wave in VHL patients, compared to controls. Examination of the retinal structure in all patients with VHL, using OCT, showed a significant decrease in retinal thickness in VHL patients without ocular hemangioblastomas, compared to controls. Conclusions: Our findings support previously established genotype-phenotype correlations. However, we here describe an unusual phenotype with a novel missense mutation, p.L198P, and report the finding that VHL disease can be associated with Goldenhar syndrome. Electrophysiological and structural findings suggest that VHL disease is a progressive, neurodegenerative disease of the retina. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/4334364
- author
- Wittström, Elisabeth LU ; Nordling, Margareta and Andréasson, Sten LU
- organization
- publishing date
- 2014
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Ophthalmic Genetics
- volume
- 35
- issue
- 2
- pages
- 91 - 106
- publisher
- Taylor & Francis
- external identifiers
-
- pmid:24555745
- wos:000335923100006
- scopus:84899874656
- pmid:24555745
- ISSN
- 1744-5094
- DOI
- 10.3109/13816810.2014.886265
- language
- English
- LU publication?
- yes
- id
- 036adbab-5d17-4179-9802-b6996970a037 (old id 4334364)
- alternative location
- http://www.ncbi.nlm.nih.gov/pubmed/24555745?dopt=Abstract
- date added to LUP
- 2016-04-01 10:21:31
- date last changed
- 2022-04-12 05:26:58
@article{036adbab-5d17-4179-9802-b6996970a037,
abstract = {{Abstract Purpose: To investigate genotype-phenotype correlation and to analyze functional and structural changes in the retina of patients with von Hippel-Lindau (VHL) disease. Methods: Thirteen patients from four families (A, B, C and D) with known VHL disease and known mutations in the VHL gene were examined. All patients underwent clinical examination and optical coherence tomography (OCT). Full-field electroretinography (full-field ERG) was performed in twelve patients. Results: Family A, with deletion of exon 3 in the VHL gene, and family B, with the missense mutation p.R79P, exhibited type 1 VHL characterized by the absence of pheochromocytoma and a high incidence of central nervous system hemangioblastomas. One member of family B exhibited Goldenhar syndrome. A novel missense mutation (p.L198P) was identified in the VHL gene in the patient from family C. This p.L198P mutation caused a phenotype with early onset of a neuroendocrine tumor of the pancreas, bilateral pheochromocytomas, and optic nerve hemangioblastoma. Full-field ERG showed significantly prolonged implicit times of the b-wave and maximal combined a-wave in VHL patients, compared to controls. Examination of the retinal structure in all patients with VHL, using OCT, showed a significant decrease in retinal thickness in VHL patients without ocular hemangioblastomas, compared to controls. Conclusions: Our findings support previously established genotype-phenotype correlations. However, we here describe an unusual phenotype with a novel missense mutation, p.L198P, and report the finding that VHL disease can be associated with Goldenhar syndrome. Electrophysiological and structural findings suggest that VHL disease is a progressive, neurodegenerative disease of the retina.}},
author = {{Wittström, Elisabeth and Nordling, Margareta and Andréasson, Sten}},
issn = {{1744-5094}},
language = {{eng}},
number = {{2}},
pages = {{91--106}},
publisher = {{Taylor & Francis}},
series = {{Ophthalmic Genetics}},
title = {{Genotype-phenotype Correlations, and Retinal Function and Structure in von Hippel-Lindau Disease.}},
url = {{http://dx.doi.org/10.3109/13816810.2014.886265}},
doi = {{10.3109/13816810.2014.886265}},
volume = {{35}},
year = {{2014}},
}