Rare diseases · Sign or symptom
Myopia
Close sighted
HP:0000545
What it means
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this216
Very common80–99%
33- 1p21.3microdeletion syndrome
- 4H leukodystrophy
- Åland Islands eye disease
- Aniridia-ptosis-intellectual disability-familial obesity syndrome
- Blepharoptosis-myopia-ectopia lentis syndrome
- Choroideremia
- Cohen syndrome
- Congenital stationary night blindness
- Donnai-Barrow syndrome
- Encephalopathy due to sulfite oxidase deficiency
- Epidermolysis bullosa simplex with anodontia/hypodontia
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
- Flynn-Aird syndrome
- Gastrocutaneous syndrome
- Gyrate atrophy of choroid and retina
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- Intellectual disability-myopathy-short stature-endocrine defect syndrome
- Knobloch syndrome
- Marshall syndrome
- Maternal uniparental disomy of chromosome 9 syndrome
- Muscle-eye-brain disease
- Night blindness-skeletal anomalies-dysmorphism syndrome
- Osteoporosis-oculocutaneous hypopigmentation syndrome
- Pitt-Hopkins syndrome
- Polydactyly-myopia syndrome
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
- Progressive bifocal chorioretinal atrophy
- Proteus-like syndrome
- Retinal degeneration-nanophthalmos-glaucoma syndrome
- Spastic ataxia-corneal dystrophy syndrome
- Stickler syndrome
- Stickler syndrome type 1
- Stickler syndrome type 2
Common30–79%
47- 17q24.2microdeletion syndrome
- 19p13.3microduplication syndrome
- 49,XXXXY syndrome
- 5q35microduplication syndrome
- Ablepharon macrostomia syndrome
- Achromatopsia
- Acrocraniofacial dysostosis
- Acute zonal occult outer retinopathy
- Alopecia-contractures-dwarfism-intellectual disability syndrome
- Alpha-mannosidosis, infantile form
- Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
- Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- Autosomal recessive Stickler syndrome
- B4GALT1-CDG
- Blepharophimosis-ptosis-epicanthus inversus syndrome
- Blue cone monochromatism
- Cardiac-valvular Ehlers-Danlos syndrome
- Cardiofaciocutaneous syndrome
- Cartilage-hair hypoplasia
- Cataract-microcornea syndrome
- Conductive deafness-ptosis-skeletal anomalies syndrome
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
- Congenital muscular dystrophy, Fukuyama type
- Cornelia de Lange syndrome
- Costello syndrome
- Danon disease
- Deafness-epiphyseal dysplasia-short stature syndrome
- Deafness-intellectual disability syndrome, Martin-Probst type
- Dermatosparaxis Ehlers-Danlos syndrome
- Developmental and speech delay due to SOX5 deficiency
- Distal limb deficiencies-micrognathia syndrome
- Emanuel syndrome
- Hermansky-Pudlak syndrome
- Homocystinuria due to cystathionine beta-synthase deficiency
- Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
- Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- Marfan syndrome
- Megalocornea-intellectual disability syndrome
- Microcephaly-chorioretinopathy-lymphedema syndrome
- Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
- Monosomy 18q syndrome
- Mucopolysaccharidosis type 3
- Musculocontractural Ehlers-Danlos syndrome
- Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
- Neuroectodermal melanolysosomal disease
- Oculocerebrofacial syndrome, Kaufman type
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Near sighted · Near sightedness · Nearsightedness
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.