Alport Syndrome

Lens
- Anterior Lenticonus
  - bilateral in 75%
  - usually absent at birth and appears in 2nd or 3rd decade
  - present in 50% of males with X-linked
  - may have associated cataract
  - Rarely associated with capsular rupture
- Posterior subcapsular cataract associated with diffuse leiomyomatosis
Fleck Retinopathy- whiteish/yellow flecks in the perimacular region 70% males and 20% females
- associated with retinal failure before age 30 in males
- peripheral retinopathy with temporal retinal thinning on OCT is common
Cornea
- posterior polymorphous corneal dystrophy and recurrent erosion
Macular hole- rare

Renal
- persistent microscopic hematuria, progressing to proteinuria, declining GFR, and ultimately end-stage kidney disease (ESKD)
- kidney biopsy shows basket-weave appearance of glomerular basement membrane, thickening and splitting of the lamina densa
- early treatment with renin-angiotensin system blockers can delay progression of end-stage renal disease
Hearing
- Progressive bilateral high-tone sensorineural hearing loss usually develops by late childhood or early adolescence