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CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation

CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation
CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation
Purpose: To report a new phenotype in retinitis pigmenotosa (RP) patients with CRB1 mutations at the RP12 locus. Patients: Thirty-seven patients from two Pakistani families with severe retinitis pigmentosa. Methods: Samples were screened with single-strand conformation polymorphism analysis followed by DNA sequencing of the coding sequence of the CRB1 gene. Results: Two novel CRB1 mutations were discovered. No patients had evidence of preservation of the para-arteriolar retinal pigment epithelium (PPRPE) that has been previously reported in all cases of RP associated with CRB1 mutations. Conclusions: Patients with severe autosomal recessive (or simplex) RP who lack the finding of PPRPE should not be excluded from molecular analysis of CRB1 purely because they lack the clinical feature of PPRPE. This report illustrates that RP at the RP12 locus is not clinically uniform. The absence of PPRPE cannot be used to exclude CRB1 as a potential molecular explanation for RP.
1381-6810
163 - 169
Lotery, A.J.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Malik, A.
70d1befd-41db-4d9b-a5f1-5edcac1ffd62
Shami, S.A.
ec5b0e63-3471-4725-85e2-6d7e96ed7a35
Sindhi, M.
0c3edefc-3d00-4545-adca-e53e2edf47d8
Chohan, B.
cb5960b9-f751-4627-87f1-52da675740fe
Maqbool, C.
b0554744-e8bb-465b-bc6d-368a0caf325f
Moore, P.A.
c528d1af-3e16-4569-8d2c-fc0e7dfb96b1
Denton, M.J.
c5f14768-4588-42ab-8ee9-cee5f2bda46f
Stone, E.M.
d788b3ba-d2ab-4350-860a-83ae0abe5805
Lotery, A.J.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Malik, A.
70d1befd-41db-4d9b-a5f1-5edcac1ffd62
Shami, S.A.
ec5b0e63-3471-4725-85e2-6d7e96ed7a35
Sindhi, M.
0c3edefc-3d00-4545-adca-e53e2edf47d8
Chohan, B.
cb5960b9-f751-4627-87f1-52da675740fe
Maqbool, C.
b0554744-e8bb-465b-bc6d-368a0caf325f
Moore, P.A.
c528d1af-3e16-4569-8d2c-fc0e7dfb96b1
Denton, M.J.
c5f14768-4588-42ab-8ee9-cee5f2bda46f
Stone, E.M.
d788b3ba-d2ab-4350-860a-83ae0abe5805

Lotery, A.J., Malik, A., Shami, S.A., Sindhi, M., Chohan, B., Maqbool, C., Moore, P.A., Denton, M.J. and Stone, E.M. (2001) CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation. Ophthalmic Genetics, 22 (3), 163 - 169. (doi:10.1076/opge.22.3.163.2222).

Record type: Article

Abstract

Purpose: To report a new phenotype in retinitis pigmenotosa (RP) patients with CRB1 mutations at the RP12 locus. Patients: Thirty-seven patients from two Pakistani families with severe retinitis pigmentosa. Methods: Samples were screened with single-strand conformation polymorphism analysis followed by DNA sequencing of the coding sequence of the CRB1 gene. Results: Two novel CRB1 mutations were discovered. No patients had evidence of preservation of the para-arteriolar retinal pigment epithelium (PPRPE) that has been previously reported in all cases of RP associated with CRB1 mutations. Conclusions: Patients with severe autosomal recessive (or simplex) RP who lack the finding of PPRPE should not be excluded from molecular analysis of CRB1 purely because they lack the clinical feature of PPRPE. This report illustrates that RP at the RP12 locus is not clinically uniform. The absence of PPRPE cannot be used to exclude CRB1 as a potential molecular explanation for RP.

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Published date: 2001

Identifiers

Local EPrints ID: 24837
URI: http://eprints.soton.ac.uk/id/eprint/24837
ISSN: 1381-6810
PURE UUID: b84c419c-ca04-4989-80b1-63f53a656455
ORCID for A.J. Lotery: ORCID iD orcid.org/0000-0001-5541-4305

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Date deposited: 05 Apr 2006
Last modified: 16 Mar 2024 03:31

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Contributors

Author: A.J. Lotery ORCID iD
Author: A. Malik
Author: S.A. Shami
Author: M. Sindhi
Author: B. Chohan
Author: C. Maqbool
Author: P.A. Moore
Author: M.J. Denton
Author: E.M. Stone

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