Inher Management

Disease itanc Charcteristics RP characteristics Features

e
Ushers
AR Develops before puberty Deafness
syndrome

Mitoc
Kearns-Sayre Coarse pigment clumping which
h
syndrome principally affects the central fundus
DNA.
Initially
Inborn error of Cerebellar ataxia ,
Plasmapheres
metabolism due to Develops in second decades Polyneuropathy,
is
deficiency of Gen. saltand-pepper fundus Cardiomyopathy
Later
enzyme phytanic Progressive weakness of distal extremities
Phytanic acid
acid 2- Deafness
free diet
Refsums
AR hydroxylase Dry skin
disease
resulting in Anosmia
accumulation of Cataract, Miosis, Prominent corneal Progressive
phytanic acid in nerves restriction of ocular motility.
blood & body Elevated CSF protein in absence of pleocytosis (
tissues Cytoalbuminous inversion)

Diagnosis
Towards the end of first decades
based on
Bassen- Deficiency in Pigment clumps are larger than RP & not
serum Apo-B
Kornzweig lipoproteins and confined to equatorial region Spinocerebeller ataxia
deficiency
syndrome malabsorption of Acanthocytosis
AD Vitamine E, if
(Heredit. the fat-soluble Fat intolerance
instituted
abetalipoprot vitamins A, D, E, diarrhoea
Ophthalmoplegia, Ptosis early may be
einemia) and K.
benefiaicial

RP is serious & 75% patients become

Bardet-Biedl Obesity Mental retardation Polydactyly
blind by 20 years
syndrome Hypogonadism
Bulls eye Maculopathy
Cockaynes Deafness,progeria ,dwarfism ,mental
syndrome retardation.