Myopia, and Glaucoma

Diseases related with Myopia and Glaucoma

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


Top matches:

Medium match CATARACT 42; CTRCT42


Related symptoms:

  • Cataract
  • Myopia
  • Glaucoma
  • Congenital cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 42; CTRCT42

Medium match GLAUCOMA, PRIMARY OPEN ANGLE; POAG


Quigley (1993) reviewed adult-onset primary open angle glaucoma, which combines a particular abnormal appearance of the optic disc (optic nerve head) with a slowly progressive loss of visual sensitivity. Many patients with glaucoma have intraocular pressures above the normal range, although this cannot be considered part of the definition of the disease, since some patients have normal intraocular pressures. Changes in the optic disc, either inherited or acquired, contribute to the development of the disorder, which leads to visual loss from increasing nerve fiber layer atrophy. Quigley et al. (1994) stated that POAG should be reviewed as a multifactorial disorder. Genetic Heterogeneity of Primary Open Angle GlaucomaOther forms of primary open angle glaucoma include GLC1A (OMIM ), caused by mutation in the MYOC gene (OMIM ) on chromosome 1q24.3-q25.2; GLC1B (OMIM ) on chromosome 2cen-q13; GLC1C (OMIM ) on chromosome 3q21-q24; GLC1D (OMIM ) on chromosome 8q23; GLC1F (OMIM ), caused by mutation in the ASB10 gene on chromosome 7q36; GLC1G (OMIM ), caused by mutation in the WDR36 gene (OMIM ) on chromosome 5q22; GLC1H (OMIM ) on chromosome 2p16-p15; GLC1I (OMIM ) on chromosome 15q11-q13; GLC1J (OMIM ) on chromosome 9q22; GLC1K (OMIM ) on chromosome 20p12; GLC1L (see {137750}) on chromosome 3p22-p21; GLC1M (OMIM ) on chromosome 5q22; GLC1N (OMIM ) on chromosome 15q22-q24; GLC1O (OMIM ), caused by mutation in the NTF4 gene (OMIM ) on chromosome 19q13.3; GLC1P (OMIM ), caused by an approximately 300-kb duplication on chromosome 12q24, most likely involving the TBK1 gene (OMIM ).Nail-patella syndrome (NPS ), which is caused by mutation in the LMX1B gene (OMIM ) on chromosome 9q34, has open angle glaucoma as a pleiotropic feature. Other Forms of GlaucomaFor a general description and a discussion of genetic heterogeneity of congenital forms of glaucoma, see GLC3A (OMIM ).See {606657} for a discussion of normal tension glaucoma (NTG) or normal pressure glaucoma (NPG), a subtype of POAG.

Related symptoms:

  • Hypertension
  • Peripheral neuropathy
  • Myopia
  • Optic atrophy
  • Blindness


SOURCES: OMIM MENDELIAN

More info about GLAUCOMA, PRIMARY OPEN ANGLE; POAG

Medium match CATARACT 6, MULTIPLE TYPES; CTRCT6


Mutations in the EPHA2 gene have been found to cause multiple types of cataract, which have been described as posterior polar, congenital total, complete, and age-related cortical.The preferred title/symbol of this entry was formerly 'Cataract, posterior polar, 1; CTPP1,' and 'Cataract, Age-Related Cortical, 2; ARCC2' was formerly a distinct entry.

CATARACT 6, MULTIPLE TYPES; CTRCT6 Is also known as cataract, age-related cortical, 2|cataract, posterior polar, 1|ctpp1|arcc2

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Myopia
  • Glaucoma


SOURCES: OMIM MENDELIAN

More info about CATARACT 6, MULTIPLE TYPES; CTRCT6

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Other less relevant matches:

Medium match ANTERIOR SEGMENT DYSGENESIS 3; ASGD3


Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).Some patients with ASGD3 have been reported with the following subtypes: iridogoniodysgenesis, Peters anomaly, Axenfeld anomaly, and Rieger anomaly.Iridogoniodysgenesis, which is characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma, is the result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior segment of the eye (summary by Mears et al., 1996).Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea (Peters, 1906).In Axenfeld anomaly, strands of iris tissue attach to the Schwalbe line; in Rieger anomaly, in addition to the attachment of iris tissue to the Schwalbe line, there is clinically evident iris stromal atrophy with hole or pseudo-hole formation and corectopia (summary by Smith and Traboulsi, 2012).

ANTERIOR SEGMENT DYSGENESIS 3; ASGD3 Is also known as irid1|glaucoma iridogoniodysplasia, familial|iris hypoplasia with glaucoma|igda|iridogoniodysgenesis anomaly, autosomal dominant|iridogoniodysgenesis, type 1

Related symptoms:

  • Myopia
  • Glaucoma
  • Cerebellar vermis hypoplasia
  • Ectopia lentis
  • Congenital glaucoma


SOURCES: OMIM MENDELIAN

More info about ANTERIOR SEGMENT DYSGENESIS 3; ASGD3

Medium match ECTOPIA LENTIS ET PUPILLAE


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

Medium match WAGNER VITREORETINOPATHY; WGVRP


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

Medium match JUVENILE GLAUCOMA


Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.

JUVENILE GLAUCOMA Is also known as glaucoma, primary open angle, juvenile-onset, 1|joag1

Related symptoms:

  • Hypertension
  • Peripheral neuropathy
  • Myopia
  • Blindness
  • Visual loss


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about JUVENILE GLAUCOMA

Medium match CONE-ROD DYSTROPHY 9; CORD9


Related symptoms:

  • Nystagmus
  • Cataract
  • Visual impairment
  • Myopia
  • Visual loss


SOURCES: OMIM MENDELIAN

More info about CONE-ROD DYSTROPHY 9; CORD9

Medium match JOINT LAXITY, SHORT STATURE, AND MYOPIA; JLSM


Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Myopia
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about JOINT LAXITY, SHORT STATURE, AND MYOPIA; JLSM

Medium match ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME


Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present (summary by Shah et al., 2014).For a discussion of genetic heterogeneity of Weill-Marchesani syndrome, see WMS1 (OMIM ).

ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME Is also known as wmsl|weill-marchesani-like syndrome|15q26.3 microdeletion syndrome

Related symptoms:

  • Short stature
  • Cataract
  • Brachydactyly
  • Myopia
  • Optic atrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME

Top 5 symptoms//phenotypes associated to Myopia and Glaucoma

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
High myopia Uncommon - Between 30% and 50% cases
Visual loss Uncommon - Between 30% and 50% cases
Ectopia lentis Uncommon - Between 30% and 50% cases
Retinal detachment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopia and Glaucoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Visual impairment Blindness Congenital cataract Optic atrophy

Rare Symptoms - Less than 30% cases


Coloboma Astigmatism Anterior synechiae of the anterior chamber Short stature Ectopia pupillae Increased intraocular pressure Hypertension Peripheral neuropathy Retinal atrophy Abnormal iris vasculature Abnormality of skin pigmentation Optic neuropathy Subcapsular cataract Exotropia Open angle glaucoma Nystagmus Talipes equinovarus Scoliosis Hearing impairment Reduced visual acuity Ectopic fovea Retinopathy Posterior subcapsular cataract Cone/cone-rod dystrophy Optic disc pallor Photophobia Pigmentary retinopathy Pallor Joint dislocation Kyphosis Cervical kyphosis Retinal hole Microspherophakia Iridodonesis Mydriasis Thickened skin Short palm Joint stiffness Brachydactyly Multiple joint dislocation Proptosis Bilateral talipes equinovarus Chorioretinal coloboma Progressive hearing impairment Erosive vitreoretinopathy Iris coloboma Talipes Pectus carinatum Joint laxity Kyphoscoliosis Peripheral tractional retinal detachment Chorioretinal atrophy Optically empty vitreous Cerebellar vermis hypoplasia Peters anomaly Corneal neovascularization Enlarged cisterna magna Hypoplasia of the iris Posterior embryotoxon Aniridia Congenital glaucoma Posterior lenticonus Rieger anomaly Lenticonus Polar cataract Posterior polar cataract Choroideremia Amblyopia Esotropia Strabismus Anterior segment developmental abnormality Polycoria Moderate myopia Vitreoretinopathy Rhegmatogenous retinal detachment Vitreous floaters Presenile cataracts Mild myopia Chorioretinal dystrophy Exudative vitreoretinopathy Retinal pigment epithelial atrophy Abnormality of the vasculature Axenfeld anomaly Visual field defect Constriction of peripheral visual field Nyctalopia Corneal astigmatism Persistent pupillary membrane Lens luxation Dilatation Hypoplastic iris stroma Phakodonesis



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