Rare diseases · Sign or symptom
Cataract
Clouding of the lens of the eye
HP:0000518
What it means
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity).
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 this318
Very common80–99%
55- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- Absence deformity of leg-cataract syndrome
- Adult Refsum disease
- ALDH18A1-related De Barsy syndrome
- Alpha-mannosidosis
- Alpha-N-acetylgalactosaminidase deficiency type 3
- Aniridia-intellectual disability syndrome
- Autosomal recessive palmoplantar keratoderma and congenital alopecia
- Autosomal recessive spastic paraplegia type 46
- Blomstrand lethal chondrodysplasia
- Cardiomyopathy-cataract-hip spine disease syndrome
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- Cataract-intellectual disability-hypogonadism syndrome
- Cataract-microcornea syndrome
- Cataract-nephropathy-encephalopathy syndrome
- Cochleosaccular degeneration-cataract syndrome
- CODAS syndrome
- COFS syndrome
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
- Congenital cataracts-facial dysmorphism-neuropathy syndrome
- Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
- Congenital rubella syndrome
- Foveal hypoplasia-presenile cataract syndrome
- Galactose epimerase deficiency
- Hereditary hyperferritinemia-cataract syndrome
- Hereditary mucoepithelial dysplasia
- Hydrocephaly-cerebellar agenesis syndrome
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
- Infantile spasms-broad thumbs syndrome
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
- Lathosterolosis
- Marinesco-Sjögren syndrome
- Marshall syndrome
- Microcephalic osteodysplastic dysplasia, Saul-Wilson type
- Microcephalic primordial dwarfism, Toriello type
- Microcephaly-microcornea syndrome, Seemanova type
- Micro syndrome
- Monosomy 9q22.3 syndrome
- Mosaic variegated aneuploidy syndrome
- Nance-Horan syndrome
- Nathalie syndrome
- Norrie disease
- Oculocerebrorenal syndrome of Lowe
- Oculofaciocardiodental syndrome
- Persistent hyperplastic primary vitreous
- Progeria-short stature-pigmented nevi syndrome
- Proximal myotonic myopathy
- Relapsing polychondritis
- Rhizomelic chondrodysplasia punctata
- Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
- Stickler syndrome
- Stickler syndrome type 1
- Stickler syndrome type 2
- Werner syndrome
Common30–79%
24- Adams-Oliver syndrome
- AGel amyloidosis
- ALG2-CDG
- ALG8-CDG
- Alpha-mannosidosis, infantile form
- Alpha-N-acetylgalactosaminidase deficiency
- Alström syndrome
- Amoebic keratitis
- Aniridia-absent patella syndrome
- Autoimmune hypoparathyroidism
- Autoimmune polyendocrinopathy type 1
- Autosomal dominant optic atrophy and cataract
- Autosomal recessive spastic paraplegia type 69
- Autosomal recessive Stickler syndrome
- Aymé-Gripp syndrome
- Birdshot chorioretinopathy
- Blau syndrome
- Blindness-scoliosis-arachnodactyly syndrome
- Cataract-aberrant oral frenula-growth delay syndrome
- Classic galactosemia
- Cloverleaf skull-multiple congenital anomalies syndrome
- Cockayne syndrome
- Cockayne syndrome type 1
- Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
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, and Orphanet separately records 2 diseases where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Cataracts · Cloudy lens · Lens opacities · Lens opacity
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.