Portal de Periódicos da CAPES

Meesmann corneal epithelial dystrophy in a Saudi Arabian family

1998; Elsevier BV; Volume: 125; Issue: 2 Linguagem: Inglês

10.1016/s0002-9394(99)80089-0

1879-1891

Ihsan A. Badr, Salim Basaffar, Monzer Jabak Rim, Michael D. Wagoner,

Advanced Glycation End Products research

Purpose Meesmann corneal epithelial dystrophy is a dominantly inherited disorder that was originally reported in Germany and later in descendants of German immigrants to the United States. We report Meesmann corneal epithelial dystrophy in a family that cannot be traced to Germanic origin. Methods A 17-year-old Saudi boy from the Al-Qahtani tribe of the Asir region of the kingdom came to the King Khaled Eye Specialist Hospital with classic clinical findings of Meesmann corneal epithelial dystrophy. We examined all members of the immediate family of the index case and members of five branches of the extended family. Results Meesmann corneal epithelial dystrophy was present in the father and one sister of the index case. Four additional affected individuals were identified in three generations of one branch of the extended family. All but one of the seven affected individuals were aged 17 years or older. Our findings are consistent with previous reports of an autosomal dominant pattern of inheritance, with probable incomplete penetrance or delayed onset of phenotypic expression. Conclusion We report Meesmann corneal epithelial dystrophy in a family without German ancestry. Meesmann corneal epithelial dystrophy is a dominantly inherited disorder that was originally reported in Germany and later in descendants of German immigrants to the United States. We report Meesmann corneal epithelial dystrophy in a family that cannot be traced to Germanic origin. A 17-year-old Saudi boy from the Al-Qahtani tribe of the Asir region of the kingdom came to the King Khaled Eye Specialist Hospital with classic clinical findings of Meesmann corneal epithelial dystrophy. We examined all members of the immediate family of the index case and members of five branches of the extended family. Meesmann corneal epithelial dystrophy was present in the father and one sister of the index case. Four additional affected individuals were identified in three generations of one branch of the extended family. All but one of the seven affected individuals were aged 17 years or older. Our findings are consistent with previous reports of an autosomal dominant pattern of inheritance, with probable incomplete penetrance or delayed onset of phenotypic expression. We report Meesmann corneal epithelial dystrophy in a family without German ancestry.