Figure 949

NPH: EXTRARENAL INVOLVEMENT Nephronophthisis (NPH): extrarenal involvement. Extrarenal involve ment occurs in 20% of NPH cases. The most frequent finding is tapetoretinal degeneration (known as Senior-Loken syndrome), which often results in early blindness or progressive visual impairment. Other rare manifestations include liver (hepatomegaly, hepatic fibro-sis), bone (cone-shaped epiphysis), and central nervous system (mental retardation, cerebellar ataxia) abnormalities, quite often in association.

Retinitis pigmentosa (Senior-Loken syndrome) Multiple organ involvement, including Liver fibrosis Other rare features Skeletal changes (cone-shaped epiphyses) Cerebellar ataxia Mental retardation

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