RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (RDJCSS)

Question 1

What is  RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (RDJCSS)?

Accepted Answer

rare

autosomal recessive

mutation in the RDH11 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 616108

Question 3

Which enzymes are involved?

Accepted Answer

Retinol dehydrogenase 11

Disease	RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (RDJCSS)
OMIM	616108 OMIM = Online Mendelian Inheritance of Men
Orphanet	436245
Protein (UniProt)	Retinol dehydrogenase 11
ExPASy	1.1.1.300
Gene locus	1q24.1
ICD	Q87.8
Summary	rare autosomal recessive mutation in the RDH11 gene
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	blindness, visual loss, visual impairment cataract dysmorphism learning disability onset, adolescent onset, childhood psychomotor retardation retinitis pigmentosa short stature