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



(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)

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