OOA (Old Order Amish)

MEN (General Swiss-German Mennonite)

Inheritance: autosomal recessive
Genes: NPHP1

SLNS1
Renal-retinal syndrome
Renal dysplasia and retinal aplasia

Kidney disease
Blindness
Diabetes insipidus
Pigmentary retinopathy

Senior-Loken Syndrome 1

Clinical Characteristics

General description (for patients):

This is a disease affecting the kidneys and retinas.  It may not be diagnosed until the second decade although symptoms of excessive thirst and urination may be present much earlier.  Notable vision loss occurs earlier as a result of abnormal pigmentation of the retinas.  Overall growth and development may be normal.  Fatigue and anemia from the progressive kidney failure are common problems.

Medical description: 

A number of renal-retinal disorders have been reported and the nosology is not clear.  This type, found in an Amish/Mennonite family, includes progressive azotemia, anemia and a pigmentary retinopathy.  A renal biopsy showed extensive interstitial fibrosis with focal lymphocytic infiltration.  One individual had a mutlti-year history of diabetes insipidus and vision ‘problems’ before being diagnosed.  Easy fatigability can be a chief complaint.  The pigmentary retinopathy has been called retinitis pigmentosa and Leber’s congenital amaurosis, diagnoses unlikely in view of the course of vision loss.  No retinal function studies have been reported.

Genetics:  

This (SLNS1) is an uncommon autosomal recessive disorder due to a mutation in the nephronophthisis-1 gene (NPHP1) located on chromosome 2 (2q13).  It has been reported in an Amish/Mennonite family but no information on the genotype is available.

Treatment:

No treatment is available for the pigmentary retinopathy, but anemia and kidney failure are amenable to the usual therapies.

Prognosis:

Relatively good with survival to adulthood.

Ancillary treatments and support:

General supportive.

Specialists and specialty centers:

Ophthalmologist, Nephrologist, Internist.

References:

Schimke, R.N.:  Hereditary renal-retinal dysplasia.  Ann. Intern. Med. 70: 735-744, 1969.  PubMed ID: 5771531

Caridi, G., Murer, L., Bellaneuono, R., Sorino, p. Caringella, D.A., Gusmano, R., and Ghiggeri, G.M.:  Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deetion of the NPH1 locus.  Am. J. Kidney Dis. 32: 1059-1062, 1998.  PubMed ID: 9856524

Warady, B.A., Cibis, G., Alon, U., Blowey, D., and Hellerstein, S.:  Senior-Loken syndrome: revisited.  Pediatrics 94: 111-112, 1994.  PubMed ID: 8008515

Resources:

National Kidney Foundation
Foundation Fighting Blindness