Central Corneal Mosaic Opacities in Schnyder's Crystalline Dystrophy
Presented at: American Academy of Ophthalmology Annual Meeting, November 15–18, 2003; Anaheim, California.
Received 26 May 2004; accepted 1 November 2004. published online 04 March 2005.
Purpose
To report an unusual presentation of Schnyder's corneal crystalline dystrophy (SCCD), sharing the feature of central corneal mosaic opacities.
Design
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.
1Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan
2School of Medicine, National Yang-Ming University, Taipei, Taiwan
3Institute of Genetics and Genome Research Center, National Yang-Ming University, Taipei, Taiwan
4Department of Medical Research and Education, Taipei Veterans General Hospital, Taipei, Taiwan
5Department of Orthopedics, Taipei Veterans General Hospital, Taipei, Taiwan
Reprint requests and correspondence to Pei-Yu Lin, MD, Department of Ophthalmology, 201, Sec. 2, Shih-Pai Road, Taipei 11217, Taiwan
Manuscript no. 240407.
The authors had no proprietary or financial interest in any product or company involved in this study.
ABSTRACT