Schnyder Corneal Dystrophy in a Saudi Arabian Family
Author Information
Author(s): Al-Ghadeer Huda Mohamed Jawahir Y., Khan Arif O.
Primary Institution: King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
Hypothesis
This report investigates the presence of Schnyder corneal dystrophy in a Saudi Arabian family with a specific UBIAD1 mutation.
Conclusion
The study confirms the occurrence of Schnyder corneal dystrophy in a Saudi Arabian family linked to a heterozygous UBIAD1 mutation.
Supporting Evidence
- The affected family members exhibited central crystalline keratopathy consistent with Schnyder corneal dystrophy.
- Genetic testing revealed a known point mutation (c.361C>T, p.L121F) in both affected individuals.
- Blood lipid profiles showed mildly elevated cholesterol and low-density lipoproteins in the affected patients.
Takeaway
This study shows that a rare eye condition called Schnyder corneal dystrophy can happen in families from Saudi Arabia due to a specific gene change.
Methodology
The study involved clinical examinations, blood testing, and genetic analysis of family members.
Limitations
The study is limited by the small sample size and the lack of long-term follow-up.
Participant Demographics
The participants included a mother and her daughter, both affected, and other asymptomatic family members.
Digital Object Identifier (DOI)
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