Cataract, and Corneal opacity

Diseases related with Cataract and Corneal opacity

In the following list you will find some of the most common rare diseases related to Cataract and Corneal opacity that can help you solving undiagnosed cases.


Top matches:

Medium match CATARACT 36; CTRCT36


CATARACT 36; CTRCT36 Is also known as cataract, autosomal recessive congenital 4|catc4

Related symptoms:

  • Cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 36; CTRCT36

Medium match HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME


Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME Is also known as hereditary hyperferritinemia with congenital cataracts|bonneau-beaumont syndrome|hhcs

Related symptoms:

  • Cataract
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

Medium match STICKLER SYNDROME TYPE 2


A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.

Related symptoms:

  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia
  • Retinopathy


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 2

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Other less relevant matches:

Low match FUCHS ENDOTHELIAL CORNEAL DYSTROPHY


Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.

FUCHS ENDOTHELIAL CORNEAL DYSTROPHY Is also known as fecd|late hereditary endothelial dystrophy|endoepithelial corneal dystrophy

Related symptoms:

  • Cataract
  • Blindness
  • Abnormality of the eye
  • Opacification of the corneal stroma
  • Corneal dystrophy


SOURCES: ORPHANET MENDELIAN

More info about FUCHS ENDOTHELIAL CORNEAL DYSTROPHY

Low match GRANULAR CORNEAL DYSTROPHY TYPE I


Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.

GRANULAR CORNEAL DYSTROPHY TYPE I Is also known as classic gcd|corneal dystrophy groenouw type i|gcd1|granular corneal dystrophy, type i|granular corneal dystrophy type 1|gcdi|corneal dystrophy, punctate or nodular|classic granular corneal dystrophy

Related symptoms:

  • Strabismus
  • Cataract
  • Corneal dystrophy
  • Granular corneal dystrophy
  • Punctate corneal dystrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GRANULAR CORNEAL DYSTROPHY TYPE I

Low match CATARACT 34, MULTIPLE TYPES; CTRCT34


Mutations in the FOXE3 gene have been found to cause multiple types of cataract, which have been described as membranous and posterior subcapsular.

CATARACT 34, MULTIPLE TYPES; CTRCT34 Is also known as cataract, autosomal recessive congenital 3|cataract 34, multiple types, with or without microcornea|catc3

Related symptoms:

  • Nystagmus
  • Cataract
  • Corneal opacity
  • Congenital cataract
  • Microcornea


SOURCES: OMIM MESH MENDELIAN

More info about CATARACT 34, MULTIPLE TYPES; CTRCT34

Low match CATARACT-MICROCORNEA SYNDROME


Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.

Related symptoms:

  • Nystagmus
  • Cataract
  • Myopia
  • Corneal opacity
  • Iris coloboma


SOURCES: MESH ORPHANET MENDELIAN

More info about CATARACT-MICROCORNEA SYNDROME

Low match ANIRIDIA 3; AN3


Related symptoms:

  • Cataract
  • Visual impairment
  • Glaucoma
  • Corneal opacity
  • Progressive visual loss


SOURCES: OMIM MENDELIAN

More info about ANIRIDIA 3; AN3

Low match MEGALOCORNEA


Related symptoms:

  • Cataract
  • Tremor
  • Glaucoma
  • Astigmatism
  • Megalocornea


SOURCES: OMIM MENDELIAN

More info about MEGALOCORNEA

Top 5 symptoms//phenotypes associated to Cataract and Corneal opacity

Symptoms // Phenotype % cases
Corneal dystrophy Uncommon - Between 30% and 50% cases
Nystagmus Rare - less than 30% cases
Glaucoma Rare - less than 30% cases
Microcornea Rare - less than 30% cases
Myopia Rare - less than 30% cases
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Other less frequent symptoms

Patients with Cataract and Corneal opacity. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Lens subluxation Corneal arcus Miosis Membranous cataract Astigmatism Tremor Aniridia Progressive visual loss Iridodonesis Visual impairment Increased corneal thickness Iris coloboma Megalocornea Congenital cataract Posterior subcapsular cataract Subcapsular cataract Abnormality of metabolism/homeostasis Nodular corneal dystrophy Punctate corneal dystrophy Granular corneal dystrophy Strabismus Opacification of the corneal stroma Abnormality of the eye Blindness Abnormal vitreous humor morphology Retinal detachment Retinopathy Cleft palate Sensorineural hearing impairment Mosaic corneal dystrophy



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