Archives of Ophthalmology · 1971 · 38 citations · 9 references
Life SciencesGeneticsOphthalmologyHuman GeneticsMedical GeneticsOcular GeneticsCongenital DisordersCongenital Eye AnomaliesCorneal DiseaseCorneal DisordersGenetic DisordersAutosomal Recessive InheritanceCorneal Dystrophy Candidate GenesCorneal Dystrophy GeneticsCorneal Dystrophy Inheritance PatternsCorneal Dystrophy Molecular GeneticsCorneal Dystrophy PathogenesisSingle-gene InheritanceSingle-gene Mutations
A family has three siblings suffering from congenital corneal dystrophy in association with progressive sensorineural deafness. With the parents of the propositi being first cousins, an autosomal recessive mode of inheritance is suggested. All the positive findings in these patients are attributed to a single gene.
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British Journal of Ophthalmology · 1970 · 1.1K citations · Full text
Congenital Hereditary Corneal Dystrophy
A. Edward Maumenee · American Journal of Ophthalmology · 1960 · 100 citations
Medicine, Genetics, Ophthalmology +10