A family is described in which one child was affected by juvenile nephronophthisis and retinitis pigmentosa. Two additional siblings had both congenital cataracts and congenital night blindness but without kidney involvement. A pedigree analysis of this family strongly suggests that the condition is inherited as autosomal recessive trait. From our findings it can't be emphasized if pleitropism, genetic heterogeneity or change are responsible for the spectrum of the anomalies. However, it appears that the prevalence of the ocular involvement in the family members of the nephronophthisis patients could be more widespread than currently appreciated.
|Number of pages||5|
|Journal||Metabolic and Pediatric Ophthalmology|
|State||Published - 1980|