Cataract, and Hypermetropia

Diseases related with Cataract and Hypermetropia

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


Top matches:

Low 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

Low match LEBER CONGENITAL AMAUROSIS 8; LCA8


Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).For a general description and a discussion of genetic heterogeneity of LCA, see {204000}.

Related symptoms:

  • Nystagmus
  • Cataract
  • Visual impairment
  • Visual loss
  • Photophobia


SOURCES: OMIM MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS 8; LCA8

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Other less relevant matches:

Low match LEBER CONGENITAL AMAUROSIS 7; LCA7


Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).For a general description and a discussion of genetic heterogeneity of LCA, see {204000}.

Related symptoms:

  • Nystagmus
  • Cataract
  • Visual impairment
  • Visual loss
  • Photophobia


SOURCES: OMIM MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS 7; LCA7

Low match LEBER CONGENITAL AMAUROSIS 6; LCA6


Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).For a general description and a discussion of genetic heterogeneity of LCA, see {204000}.

Related symptoms:

  • Nystagmus
  • Cataract
  • Visual impairment
  • Visual loss
  • Photophobia


SOURCES: MESH OMIM MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS 6; LCA6

Low match LEBER CONGENITAL AMAUROSIS 11; LCA11


Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).For a general description and a discussion of genetic heterogeneity of LCA, see {204000}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS 11; LCA11

Low match MICROPHTHALMIA, ISOLATED 6; MCOP6


Autosomal recessive isolated posterior microphthalmos defines a rare distinct phenotype restricted to the posterior segment of the eye. In adults, it is clinically characterized by extreme hyperopia (from +7.5 to +21 diopters) due to short axial length (14 mm to 20 mm; normal is greater than 21 mm). Other features include an essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. The palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical discs, tortuous vessels, and an abnormal foveal avascular zone; in addition, papillomacular folds are often reported. Morphometric features of the small eyes predispose to complications such as narrow-angle glaucoma and uveal effusion (summary by Gal et al., 2011).

MICROPHTHALMIA, ISOLATED 6; MCOP6 Is also known as microphthalmia, posterior nonsyndromic

Related symptoms:

  • Strabismus
  • Cataract
  • Blindness
  • Microphthalmia
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED 6; MCOP6

Low match X-LINKED RETINOSCHISIS


X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.

X-LINKED RETINOSCHISIS Is also known as rs|x-linked juvenile retinoschisis|xlrs|xlrs1

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED RETINOSCHISIS

Low match MICROPHTHALMIA-RETINITIS PIGMENTOSA-FOVEOSCHISIS-OPTIC DISC DRUSEN SYNDROME


Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.

MICROPHTHALMIA-RETINITIS PIGMENTOSA-FOVEOSCHISIS-OPTIC DISC DRUSEN SYNDROME Is also known as nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome|microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Cataract
  • Blindness
  • Microphthalmia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA-RETINITIS PIGMENTOSA-FOVEOSCHISIS-OPTIC DISC DRUSEN SYNDROME

Low match LEBER CONGENITAL AMAUROSIS 2; LCA2


Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).For a general description and a discussion of genetic heterogeneity of LCA, see {204000}.

LEBER CONGENITAL AMAUROSIS 2; LCA2 Is also known as amaurosis congenita of leber ii

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Cataract
  • Visual impairment
  • Optic atrophy


SOURCES: OMIM MESH MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS 2; LCA2

Top 5 symptoms//phenotypes associated to Cataract and Hypermetropia

Symptoms // Phenotype % cases
High hypermetropia Common - Between 50% and 80% cases
Photophobia Common - Between 50% and 80% cases
Visual loss Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Visual impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Blindness Congenital blindness Keratoconus Pendular nystagmus Nyctalopia Retinal degeneration Retinal dystrophy Undetectable electroretinogram Glaucoma Rod-cone dystrophy

Rare Symptoms - Less than 30% cases


Strabismus Intellectual disability Reduced visual acuity Scleral thickening Pigmentary retinopathy Shallow anterior chamber Retinal pigment epithelial atrophy Microphthalmia Retinal detachment Cone/cone-rod dystrophy Retinopathy Myopia Moderate vision loss Mizuo phenomenon Peripheral cystoid retinal degeneration Macular schisis Vitreous hemorrhage Electronegative electroretinogram Leakage of dye on fundus fluorescein angiography Foveal atrophy Retinoschisis Leukocoria Retinal atrophy Hearing impairment Foveoschisis Congenital cataract Optic atrophy Macular hole Fundus atrophy Keratoglobus Leber optic atrophy Decreased light- and dark-adapted electroretinogram amplitude Visual field defect Cerebellar vermis hypoplasia Macular thickening Abnormality of skin pigmentation Abnormal retinal morphology Optic disc drusen Abnormal light- and dark-adapted electroretinogram Cystoid macular edema Bone spicule pigmentation of the retina Drusen Hypopigmentation of the skin Macular atrophy Sensorineural hearing impairment Abnormal electroretinogram Nuclear cataract Global developmental delay Attenuation of retinal blood vessels Severe vision loss Neurodevelopmental delay Scleral staphyloma Mild myopia Central scotoma Retinal pigment epithelial mottling Truncal obesity High myopia Obesity Short stature Abnormal vitreous humor morphology Corneal opacity Generalized hypotonia Depressivity Abnormality of vision Venous occlusion Macular degeneration Progressive visual loss Falls Abnormality of eye movement Abnormality of the eye Asteroid hyalosis Vascular tortuosity Deeply set eye Cleft palate Retinal vascular tortuosity Retinal fold Increased intraocular pressure Amblyopia Microcornea Eye poking



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