Familial exudative vitreoretinopathy and DiGeorge syndrome : a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?
PURPOSE: To describe a patient with DiGeorge syndrome in association with familial exudative vitreoretinopathy (FEVR).
DESIGN: Observational case report.
PARTICIPANTS: A newborn female and her parents.
METHODS: Family members were examined by slit-lamp biomicroscopy and indirect ophthalmoscopy. Deletion mapping was performed by fluorescent in situ hybridization and genotyping. Mutation screening was undertaken by direct sequencing.
MAIN OUTCOME MEASURES: The presence or absence of a microdeletion on chromosome 22q11.2 in the patient and her parents and mutation screening of FZD4 and LRP5 in the patient.
RESULTS: The patient had classical features of DiGeorge syndrome and FEVR. A de novo microdeletion on chromosome 22q11.2 was found in the patient, confirming the diagnosis of DiGeorge syndrome. No mutations were identified in the known FEVR genes.
CONCLUSIONS: Patients with DiGeorge syndrome should have a dilated retinal examination to look for signs of FEVR. Chromosome 22q11.2 may represent a novel locus for FEVR.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2009 |
|---|---|
| Erschienen: |
2009 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:116 |
|---|---|
| Enthalten in: |
Ophthalmology - 116(2009), 8 vom: 01. Aug., Seite 1522-4 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Gilmour, David F [VerfasserIn] |
|---|
| Links: |
|---|
| Anmerkungen: |
Date Completed 17.08.2009 Date Revised 17.11.2011 published: Print-Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1016/j.ophtha.2009.02.032 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM189083123 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM189083123 | ||
| 003 | DE-627 | ||
| 005 | 20231223183028.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231223s2009 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.ophtha.2009.02.032 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n0630.xml |
| 035 | |a (DE-627)NLM189083123 | ||
| 035 | |a (NLM)19501404 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Gilmour, David F |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Familial exudative vitreoretinopathy and DiGeorge syndrome |b a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2? |
| 264 | 1 | |c 2009 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 17.08.2009 | ||
| 500 | |a Date Revised 17.11.2011 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a PURPOSE: To describe a patient with DiGeorge syndrome in association with familial exudative vitreoretinopathy (FEVR) | ||
| 520 | |a DESIGN: Observational case report | ||
| 520 | |a PARTICIPANTS: A newborn female and her parents | ||
| 520 | |a METHODS: Family members were examined by slit-lamp biomicroscopy and indirect ophthalmoscopy. Deletion mapping was performed by fluorescent in situ hybridization and genotyping. Mutation screening was undertaken by direct sequencing | ||
| 520 | |a MAIN OUTCOME MEASURES: The presence or absence of a microdeletion on chromosome 22q11.2 in the patient and her parents and mutation screening of FZD4 and LRP5 in the patient | ||
| 520 | |a RESULTS: The patient had classical features of DiGeorge syndrome and FEVR. A de novo microdeletion on chromosome 22q11.2 was found in the patient, confirming the diagnosis of DiGeorge syndrome. No mutations were identified in the known FEVR genes | ||
| 520 | |a CONCLUSIONS: Patients with DiGeorge syndrome should have a dilated retinal examination to look for signs of FEVR. Chromosome 22q11.2 may represent a novel locus for FEVR | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 7 | |a FZD4 protein, human |2 NLM | |
| 650 | 7 | |a Frizzled Receptors |2 NLM | |
| 650 | 7 | |a LDL-Receptor Related Proteins |2 NLM | |
| 650 | 7 | |a LRP5 protein, human |2 NLM | |
| 650 | 7 | |a Low Density Lipoprotein Receptor-Related Protein-5 |2 NLM | |
| 650 | 7 | |a Receptors, G-Protein-Coupled |2 NLM | |
| 700 | 1 | |a Downey, Louise M |e verfasserin |4 aut | |
| 700 | 1 | |a Sheridan, Eamonn |e verfasserin |4 aut | |
| 700 | 1 | |a Long, Vernon |e verfasserin |4 aut | |
| 700 | 1 | |a Bradbury, John |e verfasserin |4 aut | |
| 700 | 1 | |a Inglehearn, Chris F |e verfasserin |4 aut | |
| 700 | 1 | |a Toomes, Carmel |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Ophthalmology |d 1993 |g 116(2009), 8 vom: 01. Aug., Seite 1522-4 |w (DE-627)NLM000457019 |x 1549-4713 |7 nnns |
| 773 | 1 | 8 | |g volume:116 |g year:2009 |g number:8 |g day:01 |g month:08 |g pages:1522-4 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1016/j.ophtha.2009.02.032 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 116 |j 2009 |e 8 |b 01 |c 08 |h 1522-4 | ||