retinal pallor

Retinal Dystrophy and Obesity

Clinical Characteristics
Ocular Features: 

The age of onset of symptoms is unknown but based on the report of a single family with three affected sibs, it may occur early in the second decade. Patients may note some loss of night vision and the visual fields are restricted.  The ERG responses are consistent with a generalized rod-cone dystrophy.  Fundoscopy reveals a generalized RPE atrophy together with arteriolar attenuation, peripheral pigmentary mottling and scattered white dots.  A nonspecific dyschromatopsia can be demonstrated but the fovea is relatively normal and central acuity is remarkably good.  Little is known about disease progression but an 18 year old male reported decreasing vision since the age of 11 years.  

Systemic Features: 

Obesity and a high BMI may be present.

Genetics

Homozygous mutations in the TUB gene (11p15) segregated with this disorder in a sibship from a consanguineous family.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No treatment has been reported.

References
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