Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen

General Information (adopted from Orphanet):

Synonyms, Signs: MICROPHTHALMIA, POSTERIOR, WITH RETINITIS PIGMENTOSA, FOVEOSCHISIS, AND OPTIC DISC DRUSEN
MCOP5
Number of Symptoms 25
OrphanetNr: 251279
OMIM Id: 611040
ICD-10: Q15.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Isolated anophthalmia - microphthalmia
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000568) Microphthalmia 183 / 7739
2
 (HPO:0012152) Foveoschisis 3 / 7739
3
 (HPO:0000505) Visual impairment 297 / 7739
4
 (HPO:0011510) Drusen 6 / 7739
5
 (HPO:0000540) Hypermetropia 99 / 7739
6
 (HPO:0000613) Photophobia rare [HPO:skoehler] 158 / 7739
7
 (HPO:0000591) Abnormality of the sclera 3 / 7739
8
 (HPO:0000518) Cataract rare [HPO:skoehler] 454 / 7739
9
 (HPO:0008323) Abnormal light- and dark-adapted electroretinogram 5 / 7739
10
 (HPO:0011505) Cystoid macular edema rare [HPO:skoehler] 8 / 7739
11
 (HPO:0012426) Optic disc drusen 2 / 7739
12
 (HPO:0007722) Retinal pigment epithelial atrophy 10 / 7739
13
 (HPO:0000493) Abnormality of the fovea 1 / 7739
14
 (HPO:0007737) Bone spicule pigmentation of the retina 26 / 7739
15
 (HPO:0000510) Rod-cone dystrophy 266 / 7739
16
 (HPO:0007663) Reduced visual acuity 100 / 7739
17
 (HPO:0000662) Nyctalopia 92 / 7739
18
 (HPO:0001000) Abnormality of skin pigmentation 105 / 7739
19
 (OMIM) Retinal pigment epithelium atrophy with pigment clumping and bone-spicule pigmentation 1 / 7739
20
 (OMIM) Cone responses decreased on ERG 1 / 7739
21
 (OMIM) Rod responses extinguished on ERG 1 / 7739
22
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
23
 (OMIM) Scleral thickening 1 / 7739
24
 (OMIM) Absence of foveal pit 1 / 7739
25
 (OMIM) Microphthalmia, posterior 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ayala-Ramirez et al. (2006) described a 49-year-old woman, born of second-cousin Mexican parents, who presented with progressive impairment of night vision and bilateral progressive decrease in visual acuity, both starting around 24 years of age. On examination, her ...
Molecular genetics OMIM In a consanguineous Mexican family with posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen, Ayala-Ramirez et al. (2006) analyzed the MFRP (606227) and CHX10 (142993) genes, which cause autosomal recessive forms of nanophthalmos (NNO2; 609549) and microphthalmia ...