Br J Ophthalmol 1998;82:241-244 ( March )
Coexistence of macular corneal dystrophy types I and II in a
single sibship
Ning-Pu Liu,a
Jennifer Baldwin,b
Felicia Lennon,b
Jeffrey M Stajich,b
Eugene J-M A Thonar,c
Margaret A Pericak-Vance,b
Gordon K Klintworth,a
Jeffery M Vanceb
a Department of
Ophthalmology, Duke University Medical Center, Durham, NC 27710, USA, b Department of
Medicine, Division of Neurology and Section of Medical Genetics, Duke
University Medical Center, Durham, NC 27710, USA, c Department of Biochemistry and Internal
Medicine, Rush Medical College at Rush-Presbyterian- St Luke's Medical
Center, Chicago, Illinois, USA
Correspondence to: Jeffery M Vance, PhD, MD, Division of
Neurology, Department of Medicine, Duke University Medical Center, Box
2903, Durham, NC 27710, USA.
Accepted for publication 10 October 1997
BACKGROUND Macular corneal dystrophy (MCD) is an
inherited autosomal recessive disorder that has been subdivided into
two primary immunophenotypes, MCD types I and II. The MCD type I gene
has been localised previously to chromosome 16q22 and suggestive
evidence provided that MCD type II gene is also linked to this region.
Here an unusual family is reported where both MCD types I and II are
found in a single sibship.
METHODSImmunoreactivity to an anti-keratan
sulphate monoclonal antibody (5-D-4) was evaluated in patients' serum
and in corneal tissue obtained at keratoplasty. Chromosomal haplotypes
were constructed using microsatellite repeat markers spanning the
region of the MCD type I locus.
RESULTSImmunological studies demonstrated that
two of the affected siblings have MCD type II while one has MCD type I. Haplotype analysis suggests that all three affected sibs inherited one
identical parental haplotype. However, the two MCD types differ in
their alternative chromosome with both MCD type II children sharing an
identical haplotype, different from their MCD type I sibling.
CONCLUSIONThe findings in this study support the
hypothesis that the genes for MCD types I and II co-localise to the
same region of chromosome 16 and are likely to be due to allelic
manifestations of the same abnormal gene.
Keywords:
macular corneal dystrophy;
immunophenotype;
alleles;
chromosome 16
© 1998 by British Journal of Ophthalmology
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