Familial nephropathy with retinitis pigmentosa

Congenital Nephropathy Associated with Hearing Loss, Ocular Abnormalities, Mental Retardation, Convulsions and Abnormal E. E. G

“…[12][13][14] Some cases of familial juvenile nephronophthisis and of medullary cystic disease of the kidney have been reported to be accompanied by ocular abnormalities such as tapetoretinal degeneration, etc. [15][16][17][18] The symptoms of our patient resembled in some respects familial juvenile nephronophthisis, showing growth retardation, anemia, polyuria and polydipsia since early childhood, insidious renal insufficiency without hematuria, pyuria and proteimuria, and chorioretinal degeneration, etc. Further, intravenous pyelogram of our patient revealed no visualized kidney, and a retrograde pyelogram showed a normal urinary tract and a renal arteriogram demonstrated extremely small kidneys with a very thin cortex, as usually seen in familial juvenile nephronoph thisis.…”

A new syndrome with ocular, skeletal and renal involvement

“…The renal abnormalities have included juvenile nephronophthisis [5,6], medullary cystic disease [7], hereditary hematuric nephritis [8], and vasopression -resistant diabetes insipidus [9].…”

Renal Retinal Dysplasia with Diffuse Glomerular Cysts

“…Senior et al [5] first discribed juvenile familial nephropathy with tapetoretinal dystrophy seen in family of 13. Later, Meier and Hess [6] called this specific association of juvenile nephronophthisis-cystic renal medulla complex with retinitis pigmentosa renal retinal dysplasia. And since that time this condition was reported by other authors [7][8][9].…”