Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy.
BACKGROUND
To describe the underlying molecular genetic basis, surgical management and phenotypic variation of Schnyder corneal dystrophy (SCD) identified in a four-generation Chinese family.


METHODS
This is an interventional case series of 13 members from a non-consanguineous Chinese family. All patients underwent complete ophthalmological examination and slit-lamp photography. Subsequent corneal transplantations were performed (n = 3). Blood samples were taken for DNA extraction and subsequent genetic analysis.


RESULTS
Genotyping indicated linkage to the locus at chromosome 1p36. Screening of the UBIAD1 gene identified a highly conserved mutation, Ser171Pro. Phenotypic variation in this large pedigree is similar to that seen in Caucasian patients. Surgical management of patients with anterior lamellar keratoplasty and deep anterior lamellar keratoplasty showed good visual outcomes.


CONCLUSIONS
The S171P mutation is described for the first time in a Chinese family. This is the largest non-Caucasian pedigree described with SCD. Visual rehabilitation may be performed successfully with lamellar surgical procedures as opposed to full-thickness corneal grafts.
Singapore Eye Research Institute, Singapore. jodmehta@gmail.com
J S
JS
Mehta
E N
EN
Vithana
D
D
Venkataraman
A
A
Venkatraman
V H K
VH
Yong
T
T
Aung
D T H
DT
Tan
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000601:surgery; D016039:Corneal Transplantation; D004252:DNA Mutational Analysis; D004122:Dimethylallyltranstransferase; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity
D011506:Proteins; D004122:Dimethylallyltranstransferase; C425464:UBIAD1 protein, human