Multiple Sulfatase Deficiency
General: Autosomal recessive
Ocular Congenital peripheral cataract; retinal degeneration; cherry red-spot of macula
Clinical: Progressive neurologic disease with death in the teenage years; ichthysis
Coats Disease (Leber Miliary Aneurysm; Retinal Telangiectasia)   [...] |
Good Acuity Plus Photosensitivity (GAPP). Track Related Iridiocyclitis and Scleritis (TRISC), Transient Light Sensitivity (TLS) [...] |
Duck-Bill Lips and Ptosis   [...] |
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