MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION

General Information (adopted from Orphanet):

Synonyms, Signs: MCVD
Number of Symptoms 10
OrphanetNr:
OMIM Id: 614292
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001132) Lens subluxation rare [HPO:skoehler] 13 / 7739
2
(HPO:0001083) Ectopia lentis 45 / 7739
3
(HPO:0000541) Retinal detachment rare [HPO:skoehler] 87 / 7739
4
(HPO:0011003) Severe Myopia 31 / 7739
5
(HPO:0007899) Retinal nonattachment 10 / 7739
6
(HPO:0200071) Peripheral vitreoretinal degeneration 1 / 7739
7
(HPO:0000518) Cataract 454 / 7739
8
(OMIM) Lens instability (in some patients) 1 / 7739
9
(OMIM) Increased axial length of globe 2 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mordechai et al. (2011) studied a large consanguineous Israeli Bedouin kindred segregating autosomal recessive nonsyndromic severe myopia with variable expressivity of cataract and vitreoretinal degeneration. The 13 affected family members all presented with poor eyesight in childhood, and ...
Molecular genetics OMIM In a large consanguineous Israeli Bedouin kindred with nonsyndromic severe myopia with cataract and vitreoretinal degeneration mapping to chromosome 3q28, Mordechai et al. (2011) analyzed 6 candidate genes and identified homozygosity for a missense mutation in the LEPREL1 ...