MICROPHTHALMIA, ISOLATED 6

General Information (adopted from Orphanet):

Synonyms, Signs: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC
MCOP6
Number of Symptoms 14
OrphanetNr:
OMIM Id: 613517
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:0000568) Microphthalmia 183 / 7739
2
(HPO:0000482) Microcornea rare [HPO:skoehler] 102 / 7739
3
(OMIM) Thick sclera 1 / 7739
4
(OMIM) Elevated papillomacular retinal fold 1 / 7739
5
(OMIM) Foreshortening of axial length of eyes (bilateral) 1 / 7739
6
(OMIM) Shallow anterior chamber and angle 1 / 7739
7
(OMIM) Macular pigment migration 1 / 7739
8
(OMIM) Thick choroid 1 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(OMIM) Uveal effusion (rare) 1 / 7739
11
(OMIM) Crowded optic disc 1 / 7739
12
(OMIM) High lens-to-eye volume ratio 1 / 7739
13
(OMIM) Reduction of capillary-free zone 1 / 7739
14
(OMIM) High hyperopia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive isolated posterior microphthalmos defines a rare distinct phenotype restricted to the posterior segment of the eye. In adults, it is clinically characterized by extreme hyperopia (from +7.5 to +21 diopters) due to short axial length (14 ...
Clinical Description OMIM Fuchs et al. (2005) reported 2 families from the Faroe Islands, 1 of which had previously been studied by Fledelius and Rosenberg (1987), in which affected individuals exhibited a rare ocular phenotype characterized by a short axial length ...
Molecular genetics OMIM In a large consanguineous Tunisian family segregating autosomal recessive posterior microphthalmos, Gal et al. (2011) analyzed the candidate gene PRSS56 (613858) and identified a homozygous 1-bp duplication that segregated with the disease (613858.0001). Analysis of PRSS56 in 27 ...