Progressive retinal dystrophy due to retinol transport defect

General Information (adopted from Orphanet):

Synonyms, Signs: RDCCAS
Retinol dystrophy-iris coloboma-comedogenic acne syndrome
Number of Symptoms 24
OrphanetNr: 352718
OMIM Id: 615147
ICD-10: H35.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of other vitamins and cofactors metabolism and transport
 -Rare genetic disease
Retinal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000482) Microcornea rare [HPO:skoehler] 102 / 7739
2
 (HPO:0000505) Visual impairment 297 / 7739
3
 (HPO:0200070) Peripheral retinal atrophy 2 / 7739
4
 (HPO:0007663) Reduced visual acuity 100 / 7739
5
 (HPO:0000612) Iris coloboma 116 / 7739
6
 (HPO:0000556) Retinal dystrophy 65 / 7739
7
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
8
 (OMIM) Attenuation of retinal arterioles 3 / 7739
9
 (OMIM) Cataract, nuclear sclerotic (in some patients) 1 / 7739
10
 (OMIM) Irregular macular reflex (in some patients) 1 / 7739
11
 (OMIM) Prominent optic disc with irregular capillaries (in some patients) 1 / 7739
12
 (OMIM) Bone spicule pigmentation of retina (in some patients) 1 / 7739
13
 (OMIM) Decreased peripheral vision, childhood-onset 1 / 7739
14
 (OMIM) Retinal dystrophy, progressive 1 / 7739
15
 (OMIM) Decreased night vision, childhood-onset 1 / 7739
16
 (OMIM) Absent foveal reflex (in some patients) 2 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
 (OMIM) Acne, severe comedogenic 1 / 7739
19
 (OMIM) Coloboma of the iris, inferior 1 / 7739
20
 (HPO:0040137) Comodogenic acne 1 / 7739
21
 (OMIM) Follicular keratosis, generalized (in some patients) 1 / 7739
22
 (OMIM) Photopic responses reduced on electroretinography 1 / 7739
23
 (OMIM) Scotopic responses reduced or nondetectable on electroretinography 1 / 7739
24
 (OMIM) Displacement of pupil, inferior (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Seeliger et al. (1999) reported 2 German sisters, aged 17 and 13 years, respectively, who had night vision problems since early childhood but were otherwise well, except for severe comedogenic acne with densely aggregated open and closed comedones, ...
Molecular genetics OMIM In 2 German sisters with night blindness and retinal dystrophy, who had had no detectable serum RBP, retinol levels less than 20% of normal, and normal retinyl esters, Seeliger et al. (1999) identified compound heterozygosity for missense mutations ...