Microphthalmia, and Corneal opacity

Diseases related with Microphthalmia and Corneal opacity

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

Top matches:

Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and the cornea may also be reduced, whereas the lens is normal or thicker than usual for age (summary by Fuchs et al., 2005). Genetic Heterogeneity of Isolated MicrophthalmiaMCOP1 has been mapped to chromosome 14q32. MCOP2 (OMIM ) is caused by mutation in the CHX10 gene (OMIM ) on chromosome 14q24. MCOP3 (OMIM ) is caused by mutation in the RAX gene (OMIM ) on chromosome 18q21.3. MCOP4 (OMIM ) is caused by mutation in the GDF6 gene (OMIM ) on chromosome 8q22.1. MCOP5 (OMIM ) is caused by mutation in the MFRP gene (OMIM ) on chromosome 11q23. MCOP6 (OMIM ) is caused by mutation in the PRSS56 gene (OMIM ) on chromosome 2q37.1. MCOP7 (OMIM ) is caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13.1. MCOP8 (OMIM ) is caused by mutation in the ALDH1A3 gene (OMIM ) on chromosome 15q26.

MICROPHTHALMIA, ISOLATED 1; MCOP1 Is also known as anophthalmia, clinical, isolated|microphthalmos, autosomal recessive|mcop

Related symptoms:

  • Microphthalmia
  • Glaucoma
  • Coloboma
  • Hypermetropia
  • Anophthalmia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA, ISOLATED 1; MCOP1

Related symptoms:

  • Microphthalmia
  • Retinal detachment
  • Anophthalmia
  • Sclerocornea
  • Ankyloblepharon


SOURCES: OMIM MESH MENDELIAN

More info about MICROPHTHALMIA, ISOLATED 3; MCOP3

Sclerocornea is a primary anomaly in which scleralization of a peripheral part of the cornea, or the entire corneal tissue, occurs. In the peripheral type, the affected area is vascularized with regular arcades of superficial scleral vessels. In total sclerocornea, the entire cornea is opaque and vascularized (summary by Elliott et al., 1985).

Related symptoms:

  • Nystagmus
  • Cataract
  • Microphthalmia
  • Glaucoma
  • Esotropia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED CONGENITAL SCLEROCORNEA

Other less relevant matches:

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).In sclerocornea there is congenital, nonprogressive corneal opacification that may be peripheral, sectoral, or central in location. Visual prognosis is related to the central corneal involvement. The cornea has a flat curvature. The majority of cases are bilateral (summary by Smith and Traboulsi, 2012).Isolated sclerocornea is caused by displacement of the limbal arcades and may be associated with cornea plana; in this condition, the anterior chamber is visible and the eye is not microphthalmic. In complex sclerocornea, however, corneal opacification is associated with microphthalmia, cataract, and/or infantile glaucoma. The central cornea is usually relatively clear, but the thickness is normal or increased, never reduced (summary by Nischal, 2007).

CONGENITAL CATARACT MICROCORNEA WITH CORNEAL OPACITY Is also known as copoa|sclerocornea with other ocular anomalies|corneal opacification with other ocular anomalies|ccmco

Related symptoms:

  • Generalized hypotonia
  • Cataract
  • Microphthalmia
  • Glaucoma
  • Corneal opacity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT MICROCORNEA WITH CORNEAL OPACITY

Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents.

CONGENITAL PRIMARY APHAKIA Is also known as aphakia, congenital primary|cpak|cpa

Related symptoms:

  • Nystagmus
  • Abnormal facial shape
  • Cataract
  • Microphthalmia
  • Glaucoma


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL PRIMARY APHAKIA

Persistent hyperplastic primary vitreous (PHPV), also termed 'persistent fetal vasculature,' is a developmental malformation of the eye in which the primary vitreous fails to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmia, cataract, glaucoma, and congenital retinal nonattachment (see Haddad et al., 1978; Khaliq et al., 2001; Prasov et al., 2012).PHPV shares phenotypic overlap with Norrie disease (OMIM ). Genetic Heterogeneity of Persistent Hyperplastic Primary VitreousA dominant form of PHPV has been described (PHPVAD ).

PERSISTENT HYPERPLASTIC PRIMARY VITREOUS Is also known as rnanc|persistent fetal vasculature|persistent fetal vasculature syndrome|pfvs|congenital retinal detachment|ncrna disease|retinal nonattachment and falciform detachment|ncrna|phpv|retinal nonattachment, nonsyndromic congenital|non-syndromic congenital ret

Related symptoms:

  • Nystagmus
  • Cataract
  • Blindness
  • Microphthalmia
  • Glaucoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERSISTENT HYPERPLASTIC PRIMARY VITREOUS

Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY

Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia).

OCULOAURICULAR SYNDROME, SCHORDERET TYPE Is also known as schorderet-munier-franceschetti syndrome|microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Microphthalmia
  • Rod-cone dystrophy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OCULOAURICULAR SYNDROME, SCHORDERET TYPE

Related symptoms:

  • Growth delay
  • Visual impairment
  • Ventriculomegaly
  • Reduced visual acuity
  • EEG abnormality


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED OPTIC NERVE HYPOPLASIA/APLASIA

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

Symptoms // Phenotype % cases
Glaucoma Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Sclerocornea Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Posterior embryotoxon Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Coloboma Chorioretinal coloboma Microcornea Iris coloboma Retinal detachment Anterior synechiae of the anterior chamber Buphthalmos Anterior segment developmental abnormality Posterior synechiae of the anterior chamber Increased intraocular pressure Corneal neovascularization

Rare Symptoms - Less than 30% cases

Polycoria Visual impairment Hypoplasia of the iris Reduced visual acuity Retinal dystrophy Horizontal nystagmus Ectopia pupillae Congenital glaucoma Optic nerve hypoplasia Esotropia Anophthalmia Strabismus Ectopia lentis Remnants of the hyaloid vascular system Flat cornea Bilateral cleft lip and palate Peripheral visual field loss Macular hypoplasia Nasolacrimal duct obstruction Cleft upper lip Abnormality of the pinna Oral cleft Rod-cone dystrophy Congenital nystagmus Hematuria Congenital cataract Abnormality of the ear Bilateral cleft lip Neural tube defect Cone/cone-rod dystrophy Spina bifida occulta Spina bifida Polar cataract Hypoglycemia Short mandibular rami Hypopituitarism Abnormal best corrected visual acuity test Peripheral vitreous opacities Optic nerve aplasia Abnormal involuntary eye movements Pseudopapilledema Abnormality of the optic disc Aplasia/Hypoplasia of the iris Optic disc hypoplasia Absent septum pellucidum Microphakia Neurodevelopmental delay Precocious puberty Vesicoureteral reflux EEG abnormality Ventriculomegaly Growth delay Iris cyst Inferior chorioretinal coloboma Exodeviation Cleft lip Retinal fold Optic atrophy Abnormal facial shape Scarring Anterior segment of eye aplasia Aplasia/Hypoplasia affecting the anterior segment of the eye Aphakia Peters anomaly Retinal dysplasia Aniridia Abnormality of vision Abnormality of the outer ear Miosis Generalized hypotonia Corneal degeneration Amblyopia Ankyloblepharon Anterior staphyloma Scleral staphyloma High hypermetropia Hypermetropia Macular atrophy Corneal scarring Ptosis Leukocoria Cleft palate Sensorineural hearing impairment Hearing impairment Intellectual disability Hyphema Retinal nonattachment Persistent pupillary membrane Phthisis bulbi Exudative vitreoretinopathy Optic nerve dysplasia Shallow anterior chamber Band keratopathy Bilateral microphthalmos Vitreoretinopathy Pendular nystagmus Uveitis Congenital blindness Blindness Unilateral microphthalmos


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Spina bifida, related diseases and genetic alterations