Disorder
Oculo-reno-cerebellar syndrome

Clinical Characteristics

General description (for patients):

This is a severe congenital disorder involving primarily the brain, eyes and kidneys. Developmental delays and lack of responsiveness become evident within the first months of life as vision and hearing become impaired.  Kidney failure and progressive mental retardation lead to severe disabilities with end of life occurring around 10 years of age.

Medical description (for healthcare providers):

Oculorencerebellar syndrome is a rare disorder which has only been reported in one family. Developmental problems are usually noted at 3-6 months of age with gradual loss of responses and severe retardation. Vision is also abnormal with lack of fixation early and hearing can be impaired as well.  Progressive sclerosis of renal glomeruli and arterioles seems to be responsible for gradual failure of kidney function.  The retinas clinically have scattered pigment clumps, and a loss of vascularity, while histologically there is a paucity of retinal neurons with a reduction of rods and cones.  Clinically the optic nerves appear pale although at autopsy they are described as of normal size.  Brain sections at autopsy of one case showed cerebellar hypoplasia with disorganization and a lack of the granular layer.

Genetics:

A single Canadian Mennonite family has been reported with five of 11 children affected.  Consanguinity of the parents suggests autosomal recessive inheritance although no molecular data are available.

Management:

None known. General support.

Prognosis:

This is a progressive disorder with death from kidney failure at about 8-13 years of age.

Specialists and specialty centers:

Neurologist, Nephrologists.

References:

Hunter, A.G.W., Jurenka, S., Thompson, D., and Evans, J.A.:  Absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy:  An autosomal recessive oculo-renal-cerebellar syndrome. Am. J. Med. Genet. 11: 383-395, 1982.  PubMed ID: 7091183

Resources:

National Kidney Foundation