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It is characterized by chronic renal failure leading to end-stage renal disease (ESRD) and is often associated with sensorineural deafness (Kanski 2003). The inheritance is typically XL dominant (about 80-85%) although autosomal recessive and autosomal dominant cases have been reported (Ermisch, Gross et al. 2000). The typical ocular signs are anterior lenticonus and scattered, pale, yellow, punctate flecks in the peri-macular region, sparing the fovea with normal visual acuity (Kanski 2003).
The X-linked form of the disease is caused by mutations in the COL4A5 gene encoding the alpha5-chain of type IV-collagen (Hertz, Juncker et al...
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