Central corneal mosaic opacities in Schnyder's crystalline dystrophy.
OBJECTIVE
To report an unusual presentation of Schnyder's corneal crystalline dystrophy (SCCD), sharing the feature of central corneal mosaic opacities.


METHODS
Observational case report.


METHODS
A 51-year-old man and his family members were examined. Investigations included slit-lamp biomicroscopy, radiography of knee joint, plasma lipid level, and genotyping of the SCCD candidate region in chromosome 1p34.1-1p36.


RESULTS
A symmetric, central, disciform, full-thickness opacity was seen in both corneas of the patient. The opacities appeared in a mosaic pattern, instead of collections of crystals or a diffuse haze as typically detected in SCCD. Small clumps of crystalline deposits and arcus lipoides were also observed. Systemically, hyperlipidemia and bilateral genu valgus were identified. He had 2 daughters, and both of them had bilateral corneal crystalline deposits and genu valgus. No other family members had findings suggesting SCCD. The genetic study demonstrated that all of the affected individuals shared a common haplotype within the region of previously reported SCCD locus. However, 1 unaffected sibling of the proband also had the same haplotype.


CONCLUSIONS
Central corneal mosaic opacities may be another variant of SCCD.
Wu
Chih-Wei
CW
Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan.
Lin
Pei-Yu
PY
Liu
Yu-Fen
YF
Liu
Ting-Chun
TC
Lin
Ming-Wei
MW
Chen
Wei-Ming
WM
Lee
Fenq-Lih
FL
Lee
Shui-Mei
SM
Hsu
Wen-Ming
WM
D000293:Adolescent; D002648:Child; D002784:Cholesterol / Q000378:metabolism; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D003315:Cornea / Q000473:pathology*; D003317:Corneal Dystrophies, Hereditary / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D003318:Corneal Opacity / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D003460:Crystallization; D005260:Female; D006239:Haplotypes; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D014280:Triglycerides / Q000097:blood
D014280:Triglycerides; D002784:Cholesterol