Rare diseases · Sign or symptom
Corneal opacity
HP:0007957
What it means
A reduction of corneal clarity.
Rare diseases that can present with this113
Very common80–99%
34- Alpha-mannosidosis
- Aniridia-ptosis-intellectual disability-familial obesity syndrome
- Atopic keratoconjunctivitis
- Cerebello-oculo-facio-genital syndrome
- Congenital hereditary endothelial dystrophy type II
- Corneal dystrophy-perceptive deafness syndrome
- Cystinosis
- De Barsy syndrome
- Fabry disease
- Fish-eye disease
- Fuchs endothelial corneal dystrophy
- Galactosialidosis
- Gómez-López-Hernández syndrome
- Hurler-Scheie syndrome
- Lattice corneal dystrophy type I
- Microphthalmia with linear skin defects syndrome
- Mietens syndrome
- Mosaic variegated aneuploidy syndrome
- Mucolipidosis type IV
- Mucopolysaccharidosis type 1
- Mucopolysaccharidosis type 4
- Mucopolysaccharidosis type 7
- Norrie disease
- Ophthalmomandibulomelic dysplasia
- Persistent hyperplastic primary vitreous
- Peters plus syndrome
- Scheie syndrome
- Sialidosis type 1
- Sialidosis type 2
- Stickler syndrome type 2
- Tyrosinemia type 2
- X-linked corneal dermoid
- X-linked endothelial corneal dystrophy
- Zellweger syndrome
Common30–79%
31- 8q21.11microdeletion syndrome
- Ablepharon macrostomia syndrome
- Aniridia-renal agenesis-psychomotor retardation syndrome
- Bartsocas-Papas syndrome
- CHIME syndrome
- Congenital glaucoma
- Distal deletion 6p syndrome
- Encephalocraniocutaneous lipomatosis
- Fryns syndrome
- Fucosidosis
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- Hereditary bullous dystrophy, macular type
- Hurler syndrome
- Incontinentia pigmenti
- Isolated aniridia
- LCAT deficiency
- Macrosomia-microphthalmia-cleft palate syndrome
- Moebius syndrome
- Mosaic trisomy 8 syndrome
- Mucolipidosis type III
- Multiple sulfatase deficiency
- Nasopalpebral lipoma-coloboma syndrome
- Oculocerebral hypopigmentation syndrome, Cross type
- Oculodental syndrome, Rutherfurd type
- Oculomaxillofacial dysostosis
- Osteogenesis imperfecta
- Osteoporosis-pseudoglioma syndrome
- Spinocerebellar degeneration-corneal dystrophy syndrome
- Syndromic recessive X-linked ichthyosis
- Walker-Warburg syndrome
- Wiedemann-Rautenstrauch syndrome
Sometimes5–29%
15- Alpha-mannosidosis, infantile form
- Autosomal dominant cutis laxa
- Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- Cataract-microcornea syndrome
- Congenital rubella syndrome
- Congenital sialidosis type 2
- DYRK1A-related intellectual disability syndrome
- Erythrokeratodermia variabilis
and 7 more in this range
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: Corneal clouding · Corneal opacities · Reduction of corneal clarity · Scarring or clouding of the cornea of the eye
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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.