29th December 2023

Systemic Associations

RP can be classified into isolated or syndromic forms.

The latter occurs in conjunction with systemic disease such as in the case of Usher syndrome (sensorineural deafness), Bardet-Biedl syndrome (truncal obesity, polydactyly, short stature, renal failure), Bassen-Kornzweig syndrome (steatorrhoea, ataxia, progressive external ophthalmoplegia) due to fat-soluble vitamin deficiency, Refsum syndrome (ataxia, ichthyosis, peripheral neuropathy, anosmia) due to accumulation of excessive phytanic acid, and mucopolysaccharidoses. Kearns-Sayre syndrome, a mitochondrial disorder, is sometimes associated with pigmentary retinopathy or atypical retinitis pigmentosa.