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2. Exam
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4. Diagnosis
5. Teaching Points
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Case 109 Diagnosis

Usher’s syndrome, Type I

Differential Diagnosis

The following diseases can also present with RPE degeneration and hearing loss.

• Alport’s syndrome (autosomal dominant): nephropathy, myopia, cataract
• Alström’s syndrome (autosomal recessive): nephropathy, obesity, diabetes
• Cockayne’s syndrome (autosomal recessive): dwarfism, mental retardation
• Dysplasia spondyloepiphysaria congenita (autosomal dominant): dwarfism, cleft palate, congenital high myopia, cataracts, glaucoma
• Hurler’s syndrome (autosomal recessive): early corneal clouding, gargoyle facies, mental retardation, dwarfism, skeletal abnormalities, hepatosplenomegally
• Refsum disease: cerebellar ataxia, ictyosis