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Expanding the ocular phenotype of 14q terminal deletions: a novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature

Expanding the ocular phenotype of 14q terminal deletions: a novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature
Expanding the ocular phenotype of 14q terminal deletions: a novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature
A variety of ocular anomalies have been described in the rare ring 14 and 14q terminal deletion syndromes, yet the character, prevalence, and extent of these anomalies are not well defined. Identification of these ocular anomalies can be central to providing diagnoses and facilitating optimal individual patient management. We report a child with a 14q32.31 terminal deletion and ring chromosome formation, presenting with severe visual impairment secondary to significant bilateral coloboma and microphthalmia. This patient is compared to previously reported patients with similar ocular findings and deletion sizes to further refine a locus for coloboma in the 14q terminal region. Those with ring formation and linear deletions are compared and the possibility of ring formation affecting the proximal 14q region is discussed. This report highlights the severity of ocular anomalies that can be associated with ring 14 and 14q terminal deletion syndromes and reveals the limited documentation of ocular examination in these two related syndromes. This suggests that many children with these genetic changes do not undergo an ophthalmology examination as part of their clinical assessment, yet it is only when this evaluation becomes routine that the true prevalence and extent of ocular involvement can be defined. This report therefore advocates for a thorough ophthalmological exam in children with ring 14 or 14q terminal deletion syndrome. © 2016 Wiley Periodicals, Inc.
chromosomes, human, pair 14, ring chromosomes, ring 14 syndrome, 14q terminal deletion syndrome, coloboma, microphthalamos, ophthalmology
1552-4825
1017-1022
Salter, Claire G.
e7908fa1-57b1-4d14-82eb-14e465b19c42
Baralle, Diana
faac16e5-7928-4801-9811-8b3a9ea4bb91
Collinson, Morag N.
e1313be8-5065-4e8a-a4df-ccf5bf29d466
Self, James E.
0f6efc58-ae24-4667-b8d6-6fafa849e389
Salter, Claire G.
e7908fa1-57b1-4d14-82eb-14e465b19c42
Baralle, Diana
faac16e5-7928-4801-9811-8b3a9ea4bb91
Collinson, Morag N.
e1313be8-5065-4e8a-a4df-ccf5bf29d466
Self, James E.
0f6efc58-ae24-4667-b8d6-6fafa849e389

Salter, Claire G., Baralle, Diana, Collinson, Morag N. and Self, James E. (2016) Expanding the ocular phenotype of 14q terminal deletions: a novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature. American Journal of Medical Genetics: Part A, 170 (4), 1017-1022. (doi:10.1002/ajmg.a.37436). (PMID:26773965)

Record type: Article

Abstract

A variety of ocular anomalies have been described in the rare ring 14 and 14q terminal deletion syndromes, yet the character, prevalence, and extent of these anomalies are not well defined. Identification of these ocular anomalies can be central to providing diagnoses and facilitating optimal individual patient management. We report a child with a 14q32.31 terminal deletion and ring chromosome formation, presenting with severe visual impairment secondary to significant bilateral coloboma and microphthalmia. This patient is compared to previously reported patients with similar ocular findings and deletion sizes to further refine a locus for coloboma in the 14q terminal region. Those with ring formation and linear deletions are compared and the possibility of ring formation affecting the proximal 14q region is discussed. This report highlights the severity of ocular anomalies that can be associated with ring 14 and 14q terminal deletion syndromes and reveals the limited documentation of ocular examination in these two related syndromes. This suggests that many children with these genetic changes do not undergo an ophthalmology examination as part of their clinical assessment, yet it is only when this evaluation becomes routine that the true prevalence and extent of ocular involvement can be defined. This report therefore advocates for a thorough ophthalmological exam in children with ring 14 or 14q terminal deletion syndrome. © 2016 Wiley Periodicals, Inc.

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More information

Accepted/In Press date: 3 October 2015
e-pub ahead of print date: 15 January 2016
Published date: April 2016
Keywords: chromosomes, human, pair 14, ring chromosomes, ring 14 syndrome, 14q terminal deletion syndrome, coloboma, microphthalamos, ophthalmology
Organisations: Human Development & Health, Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 386040
URI: https://eprints.soton.ac.uk/id/eprint/386040
ISSN: 1552-4825
PURE UUID: f46a1d5e-fcc9-471f-9475-38cbf7d1cb4c
ORCID for Diana Baralle: ORCID iD orcid.org/0000-0003-3217-4833
ORCID for James E. Self: ORCID iD orcid.org/0000-0002-1030-9963

Catalogue record

Date deposited: 28 Jan 2016 12:18
Last modified: 19 Nov 2019 01:46

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