Absence of phenotype-genotype correlation of patients expressing mutations in the SLC4A11 gene

Cornea
Jodhbir Singh MehtaPeriasamy Sundaresan

Abstract

The purposes of this study were to describe the clinical characteristics of corneal patients with mutations in the SLC4A11 gene and to determine if these characteristics could be correlated with specific genetic mutations. A retrospective case series review was conducted. Baseline demographic data, including gender, age at diagnosis of congenital hereditary endothelial dystrophy, family history, and pedigree information, were obtained. Information from clinical examination, including intraocular pressure, ultrasonic pachymetry, best spectacle-corrected visual acuity, axial length, and slit-lamp biomicroscopic evaluation, including corneal diameter and fundus examination, were also documented from the notes. History of corneal surgery was also recorded. Hearing loss was assessed by audiometry. Genetic analysis was performed by polymerase chain reaction amplification and sequencing. Seven patients were identified. Four of the seven had associated hearing loss; all of the patients had undergone or were awaiting penetrating keratoplasty to one or both eyes. No correlation could be reached between the ocular phenotype and the gene mutation in this small sample. Individuals with the same mutation had different degrees of hearing loss...Continue Reading

References

Aug 1, 1992·Archives of Ophthalmology·F CaronesR Magni
Feb 1, 1987·The British Journal of Ophthalmology·C M KirknessA D Steele
Oct 1, 1970·American Journal of Ophthalmology·B E Antine
Jan 1, 1971·Archives of Ophthalmology·G HarboyanF Karam
Nov 7, 1998·American Journal of Medical Genetics·A C PugaS Kwitko
Apr 3, 2001·Nature Reviews. Molecular Cell Biology·C J WiluszS W Peltz
Feb 12, 2002·Journal of Medical Genetics·M J AbramowiczA Zanen
Dec 1, 1960·American Journal of Ophthalmology·A E MAUMENEE
Aug 1, 1960·American Journal of Public Health and the Nation's Health·G G READER, M OLENCKI
Jul 11, 2006·Journal of Medical Genetics·Xiaodong JiaoChitra Kannabiran
Nov 21, 2007·Human Molecular Genetics·Eranga N VithanaTin Aung
Oct 17, 2008·Orphanet Journal of Rare Diseases·Julie Desir, Marc Abramowicz
Dec 4, 2008·European Journal of Human Genetics : EJHG·Alexey ShatunovLev G Goldfarb

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