Rare diseases · Sign or symptom
Glaucoma
HP:0000501
What it means
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognized at the superior and inferior poles of the optic disc. The vertical cup:disk ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population.
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 this130
Very common80–99%
16- Blepharoptosis-myopia-ectopia lentis syndrome
- Congenital glaucoma
- Desbuquois syndrome
- Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
- Glaucoma-sleep apnea syndrome
- Isolated complete colobomatous microphthalmia
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Microcornea-glaucoma-absent frontal sinuses syndrome
- Mosaic variegated aneuploidy syndrome
- Muscle-eye-brain disease
- Peters plus syndrome
- Pseudoprogeria syndrome
- Scheie syndrome
- Spastic paraplegia-glaucoma-intellectual disability syndrome
- Weill-Marchesani syndrome
- X-linked retinoschisis
Common30–79%
39- Aniridia-absent patella syndrome
- Axenfeld-Rieger syndrome
- Blau syndrome
- Charcot-Marie-Tooth disease type 4B2
- Coats disease
- Congenital rubella syndrome
- Distal deletion 6p syndrome
- Distal duplication 14q syndrome
- Erythrokeratodermia variabilis
- GAPO syndrome
- Hennekam syndrome
- Hereditary ATTR amyloidosis
- Hurler syndrome
- Hypertelorism-hypospadias-polysyndactyly syndrome
- Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
- Iridocorneal endothelial syndrome
- Isolated aniridia
- Marshall syndrome
- Microphthalmia, Lenz type
- Mitochondrial myopathy and sideroblastic anemia
- MOMO syndrome
- Mucopolysaccharidosis type 1
- Oculocerebrorenal syndrome of Lowe
- Oculodentodigital dysplasia
- Oculoskeletodental syndrome
- Osteogenesis imperfecta
- PHACE syndrome
- Phakomatosis pigmentovascularis
- Retinitis pigmentosa
- Retinoblastoma
- Rubinstein-Taybi syndrome
- Seckel syndrome
- Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
- SHORT syndrome
- Sturge-Weber syndrome
- Sympathetic ophthalmia
- Walker-Warburg syndrome
- Wolfram-like syndrome
- X-linked intellectual disability, Armfield 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
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.