Cataract, and Retinal detachment

Diseases related with Cataract and Retinal detachment

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

Top matches:

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

Mutations in the CRYAB gene have been found to cause multiple types of cataract, which have been described as congenital posterior polar, congenital lamellar, and juvenile. Autosomal dominant and autosomal recessive forms have been described.The preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 2; CTPP2.'

CATARACT 16, MULTIPLE TYPES; CTRCT16 Is also known as cataract, posterior polar, 2|cataract, congenital lamellar|ctpp2

Related symptoms:

  • Cataract
  • Myopia
  • Congenital cataract
  • Retinal dystrophy
  • Retinal detachment


SOURCES: OMIM MENDELIAN

More info about CATARACT 16, MULTIPLE TYPES; CTRCT16

Familial exudative vitreoretinopathy is an inherited blinding disorder caused by defects in the development of retinal vasculature. There is extensive variation in disease severity among patients, even between members of the same family. Severely affected individuals often are registered as blind during infancy and can present with a phenotype resembling retinal dysplasia. Conversely, mildly affected individuals frequently have few or no visual problems and may have just a small area of avascularity in their peripheral retina, detectable only by fluorescein angiography (summary by Poulter et al., 2012).For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy (FEVR), see EVR1 (OMIM ).

Related symptoms:

  • Cataract
  • Reduced visual acuity
  • Congenital cataract
  • Retinal detachment
  • Vitreoretinopathy


SOURCES: MESH OMIM MENDELIAN

More info about EXUDATIVE VITREORETINOPATHY 5; EVR5

Other less relevant matches:

MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3 Is also known as microphthalmia, colobomatous, isolated 3

Related symptoms:

  • Cataract
  • Cryptorchidism
  • Microphthalmia
  • Coloboma
  • Congenital cataract


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3

Related symptoms:

  • Cataract
  • Myopia
  • Retinal detachment
  • Progressive visual loss
  • Chorioretinal atrophy


SOURCES: OMIM MENDELIAN

More info about EXUDATIVE VITREORETINOPATHY 6; EVR6

Ectopia lentis et pupillae is a congenital hereditary disorder in which there is displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and pupils displaced in opposite directions (summary by Cruysberg and Pinckers, 1995). Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disc, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy (summary by Christensen et al., 2010).

ECTOPIA LENTIS ET PUPILLAE Is also known as ectopia lentis with ectopia of pupil

Related symptoms:

  • Cataract
  • Visual impairment
  • Myopia
  • Dilatation
  • Glaucoma


SOURCES: MESH OMIM MENDELIAN

More info about ECTOPIA LENTIS ET PUPILLAE

Wagner vitreoretinopathy is a rare vitreoretinal degeneration inherited as an autosomal dominant trait, first described in a large Swiss pedigree (Wagner, 1938) and subsequently identified in other families. Penetrance in Wagner syndrome is complete, and the disease manifests in childhood or adolescence with a progressive course. Affected individuals usually present with an 'empty' vitreous cavity with fibrillary condensation or avascular strands and veils. Additional features, which are variable and age-dependent, include chorioretinal atrophy with loss of the retinal pigment epithelium (RPE), lattice degeneration of the retina, complicated cataracts, mild myopia, and peripheral traction retinal detachment. Rod and cone electroretinography shows reduced b-wave amplitude and correlates with severe chorioretinal pathology. It is believed that liquefaction of vitreous initiates a degenerative cascade that results in the complex eye phenotype of Wagner syndrome (summary by Kloeckener-Gruissem et al., 2006). Patients with additional ocular features such as progressive nyctalopia (night blindness), visual field constriction, and chorioretinal atrophy, with loss of RPE and choriocapillaries on fluorescein angiography and rod-cone abnormalities on electroretinography, were initially believed to have a distinct clinical entity, which was designated 'erosive vitreoretinopathy' (ERVR). Extraocular abnormalities are not present in patients diagnosed with Wagner or erosive vitreoretinopathy (summary by Mukhopadhyay et al., 2006).

WAGNER VITREORETINOPATHY; WGVRP Is also known as erosive vitreoretinopathy|wagner syndrome 1|wagner vitreoretinal degeneration|hyaloideoretinal degeneration of wagner|wgn1|ervr

Related symptoms:

  • Cataract
  • Visual impairment
  • Myopia
  • Optic atrophy
  • Blindness


SOURCES: OMIM MENDELIAN

More info about WAGNER VITREORETINOPATHY; WGVRP

Low match PETERS ANOMALY

Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.

PETERS ANOMALY Is also known as peters congenital glaucoma

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Glaucoma
  • Reduced visual acuity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PETERS ANOMALY

Top 5 symptoms//phenotypes associated to Cataract and Retinal detachment

Symptoms // Phenotype % cases
Myopia Common - Between 50% and 80% cases
Vitreoretinopathy Uncommon - Between 30% and 50% cases
Congenital cataract Uncommon - Between 30% and 50% cases
Glaucoma Uncommon - Between 30% and 50% cases
Ectopia lentis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Cataract and Retinal detachment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Visual impairment High myopia Exudative vitreoretinopathy

Rare Symptoms - Less than 30% cases

Ectopia pupillae Blindness Chorioretinal atrophy Lens luxation Retinal exudate Tractional retinal detachment Coloboma Reduced visual acuity Aphakia Corneal opacity Chorioretinal dystrophy Retinal pigment epithelial atrophy Mild myopia Presenile cataracts Thinning of Descemet membrane Axenfeld anomaly Vitreous floaters Rhegmatogenous retinal detachment Moderate myopia Optically empty vitreous Erosive vitreoretinopathy Peripheral tractional retinal detachment Ectopic fovea Nystagmus Polycoria Corneal neovascularization Strabismus Amblyopia Opacification of the corneal stroma Blurred vision Rieger anomaly Congenital glaucoma Anterior synechiae of the anterior chamber Subcapsular cataract Retinal atrophy Aniridia Posterior embryotoxon Anterior segment developmental abnormality Peters anomaly Hypoplasia of the iris Abnormality of the vasculature Sensorineural hearing impairment Visual field defect Cortical cataract Retinopathy Abnormal vitreous humor morphology Retinal dystrophy Posterior polar cataract Polar cataract Lenticonus Posterior lenticonus Retinal dysplasia Shallow anterior chamber Cryptorchidism Microphthalmia Microcornea Progressive visual loss Retinal fold Posterior vitreous detachment Constriction of peripheral visual field Falciform retinal fold Lens subluxation Epiretinal membrane Lens coloboma Axial myopia Peripheral vitreoretinal degeneration Dilatation Cleft palate Astigmatism Persistent pupillary membrane Corneal astigmatism Optic atrophy Visual loss Nyctalopia Central opacification of the cornea


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