Clinical Signs and Symptoms
ORPHA:137902 Isolated optic nerve hypoplasia/aplasia
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Optic nerve hypoplasia HP:0000609
Always present
- Abnormal best corrected visual acuity test HP:0030534
- Optic disc hypoplasia HP:0007766
- Pseudopapilledema HP:0000538
- Reduced visual acuity HP:0007663
Very frequent
- Chorioretinal coloboma HP:0000567
- EEG abnormality HP:0002353
- Peripheral vitreous opacities HP:0007710
Frequent
- Abnormal involuntary eye movements HP:0012547
- Aplasia/Hypoplasia of the iris HP:0008053
- Corneal opacity HP:0007957
- Growth delay HP:0001510
- Neurodevelopmental delay HP:0012758
- Unilateral microphthalmos HP:0011480
- Ventriculomegaly HP:0002119
- Vesicoureteral reflux HP:0000076
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.