Saldino-Mainzer Syndrome 222j95c 222j95c 222j95c 222j95c 222j95c
General: Autosomal recessive; Leber congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphysis of the hands; similar to Senior-Loken syndrome, with the difference being cone-shaped epiphysis.
Ocular: Tapetoretinal degeneration; retinal atrophy; Leber congenital amaurosis; retinitis pigmentosa.
Clinical: Nephronophthisis; cone-shaped epiphyses of hands and feet; flared ribs; hypoplastic pelvis; brachydactyly; hyperparathyroidism; osteomalacia; osteopetrosis; renal failure.
Ellis DS, et al. Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphysis of the hands. Am J Ophthalmol 1984; 97:233-239.
Foxman SG, et al. Classification of congenital and early onset retinitis pigmentosa. Arch Ophthalmol 1985; 103: 1502-l507.
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