OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA

General Information (adopted from Orphanet):

Synonyms, Signs: MYOPIA-OPHTHALMOPLEGIA SYNDROME
OPEM
Number of Symptoms 13
OrphanetNr:
OMIM Id: 311000
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000545) Myopia 286 / 7739
2
(HPO:0007686) Abnormal pupillary function 3 / 7739
3
(HPO:0200065) Chorioretinal degeneration 7 / 7739
4
(HPO:0000546) Retinal degeneration 61 / 7739
5
(HPO:0000508) Ptosis 459 / 7739
6
(HPO:0007945) Choroidal degeneration 1 / 7739
7
(HPO:0000602) Ophthalmoplegia 56 / 7739
8
(HPO:0006844) Absent patellar reflexes 2 / 7739
9
(HPO:0003438) Absent Achilles reflex 9 / 7739
10
(HPO:0002414) Spina bifida 47 / 7739
11
(HPO:0001417) X-linked inheritance 173 / 7739
12
(OMIM) Abnormal pupillary shape 1 / 7739
13
(OMIM) Absent patellar and Achilles reflexes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Salleras and Ortiz de Zarate (1950) reported a family showing X-linked inheritance of external ophthalmoplegia and myopia. Affected men showed bilateral ptosis, complete or partial ophthalmoplegia, abnormal shape or function of the pupil, myopia, and progressive degeneration of ...