A number of syndromes may be associated with retinitis pigmentosa.
Categories of syndromic forms of retinitis pigmentosa:
(1) ciliopathies
(2) metabolic disorders
(3) mitochondrial disorders
Ciliopathies:
(1) Bardet-Biedl syndorme
(2) Cohen syndrome
(3) Joubert syndrome
(4) Senior-Loken syndrome
(5) Sensenbrenner syndrome
(6) short rib thoracic dysplasia with/without polydactyly
(7) Usher syndrome
Metabolic disorders:
(1) alfa-tocopherol transfer protein deficiency
(2) Bassen-Kornzweig syndrome (abetalipoproteinemia)
(3) HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration)
(4) mevalonate kinase deficiency
(5) mucopolysaccharidoses
(6) neuronal ceroid-lipofuscinoses (Batten disease)
(7) PHARC syndrome (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract)
(8) Refsum disease (classical)
(9) Zellweger spectrum disorder (ZSD)
Mitochondrial disorders:
(1) Kearns-Sayre syndrome
(2) NARP syndrome (neuropathy, ataxia, retinitis pigmentosa)
