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Clin Exp Ophthalmol. 2015 Sep-Oct;43(7):643-7. doi: 10.1111/ceo.12541. Epub 2015 Jun 19.

Clinical and molecular characterization of females affected by X-linked retinoschisis.

Author information

1
Centre for Eye Research Australia, University of Melbourne, Department of Ophthalmology, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
2
Macquarie University, Sydney, New South Wales, Australia.
3
Save Sight Institute, University of Sydney, Sydney, New South Wales, Australia.
4
Australian Inherited Retinal Disease Register & DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
5
Lions Eye Institute, Centre for Ophthalmology and Visual Science, University of Western Australia, Perth, Western Australia, Australia.
6
School of Medicine, Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.

Abstract

BACKGROUND:

X-linked retinoschisis (XLRS) is a leading cause of juvenile macular degeneration associated with mutations in the RS1 gene. XLRS has a variable expressivity in males and shows no clinical phenotype in carrier females.

DESIGN:

Clinical and molecular characterization of male and female individuals affected with XLRS in a consanguineous family.

PARTICIPANTS:

Consanguineous Eastern European-Australian family

METHODS:

Four clinically affected and nine unaffected family members were genetically and clinically characterized. Deoxyribonucleic acid (DNA) analysis was conducted by the Australian Inherited Retinal Disease Register and DNA Bank.

MAIN OUTCOME MEASURES:

Clinical and molecular characterization of the causative mutation in a consanguineous family with XLRS.

RESULTS:

By direct sequencing of the RS1 gene, one pathogenic variant, NM_000330.3: c.304C > T, p. R102W, was identified in all clinically diagnosed individuals analysed. The two females were homozygous for the variant, and the males were hemizygous.

CONCLUSION:

Clinical and genetic characterization of affected homozygous females in XLRS affords the rare opportunity to explore the molecular mechanisms of XLRS and the manifestation of these mutations as disease in humans.

KEYWORDS:

X-linked retinoschisis; clinical genetics; molecular genetics

PMID:
25894957
DOI:
10.1111/ceo.12541
[Indexed for MEDLINE]

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