J Korean Ophthalmol Soc.  2010 Mar;51(3):440-446.

N102S Mutation of UBIAD1 Gene in a Family with Schnyder Crystalline Corneal Dystrophy

• Chung WS
• Hong HK
• Kim TI
• Kim EJ
• Kim EK

Abstract

PURPOSE
Schnyder crystalline corneal dystrophy (SCCD) is an autosomal dominant disease characterized by progressive central corneal opacification and premature development of peripheral arcus in the cornea. This disease results from a point mutation of UBIAD1 in chromosome 1p34-36. Until now, 15 different mutations of UBIAD1 gene on chromosome 1p34-36 have been reported for Schnyder crystalline corneal dystrophy. More point mutations are expected to be added to the list in the future. Schnyder crystalline corneal dystrophy is a rare disease, with only three reported cases in Korea, although there has been no report of a genetically confirmed case of the disease.
CASE SUMMARY
We encountered six patients with an N102S mutation of UBIAD1, who are from a family of two generation with 12 family members. Genetic confirmation for Schnyder crystalline corneal dystrophy was performed on these patients. This was the first report of a genetic confirmation of Schnyder crystalline corneal dystrophy in Korea. We will discuss our cases along with a review of the related literature.

Keyword

Cornea; N102S; Schnyder corneal dystrophy; Schnyder crystalline corneal dystrophy; UBIAD1

MeSH Terms

Cornea
Corneal Dystrophies, Hereditary
Crystallins
Humans
Korea
Point Mutation
Rare Diseases
Corneal Dystrophies, Hereditary
Crystallins

Figure

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  Figure 1. Pedigree of the study family. Squares indicate male and circles indicate female. Slash means family member who was deceased, whereas blackened symbols represent the individuals who were affected by Schnyder crystalline corneal dystrophy. Black arrow indicates proband.

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  Figure 2. External photographs of the cornea of 38-year-old female(II:4, the proband) with BCVA of 0.8(OU) show bilateral deposition of anterior stromal crystals, corneal arcus and stromal haze. OD(A, B), OS(C, D).

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  Figure 3. Anterior segment Fourier domain OCT (A) and external photograph (B) of the right cornea of 38-year-old female (II:4) with BCVA of 0.8 show deposition of typical central subepithelial and anterior stromal crystals within anterior one third of the corneal depth. Crystalline deposits splitted into spindle shape (white arrow). Bowman layer was broken after crystalline deposits were dropped out (white wedge).

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  Figure 4. Slit-lamp photographs of affected patients' eyes (OD:A, C, E, G, I. OS:B, D, F, H, J.). (A, B) Both cornea of the 48-year-old female (II:2) shows with BCVA 0.4 (OU) show diffuse corneal opacifications and arcus lipoides. (C, D) Both cornea of the 44-year-old female (II: 3) shows with BCVA 0.6 (OU) show diffuse garland corneal opacifications and arcus lipoides. No crystals are apparent in the corneal stroma. (E, F) Both cornea of the 31-year-old female (II:7) shows show minimal garland stromal haze. (G, H) Both cornea of the 25-year-old female (III:1) shows with BCVA 0.8 (OU) show mild garland anterior stromal haze. (I, J) Both cornea of the 17-year-old male (III:3) shows with BCVA 0.8 (OD) 0.9 (OS) show dominant deposition of subepithelial crystals with slight stromal haze.

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  Figure 5. (A) Sequence chromatogram of the proband showing heterozygous mutation N102S in exon 1, forward reading. (B) Reverse reading of the same mutation, showing N102S.

Reference

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