Cataract, and Cone/cone-rod dystrophy

Diseases related with Cataract and Cone/cone-rod dystrophy

In the following list you will find some of the most common rare diseases related to Cataract and Cone/cone-rod dystrophy that can help you solving undiagnosed cases.


Top matches:

Low 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

Low match RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS; RP82


Related symptoms:

  • Cataract
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Pallor
  • Abnormality of skin pigmentation


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS; RP82

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

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Other less relevant matches:

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 CONE-ROD DYSTROPHY 16; CORD16


Cone-rod dystrophy (CORD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. RP is characterized initially by rod photoreceptor dysfunction, giving rise to night blindness, which is followed by progressive rod and cone photoreceptor dystrophy, resulting in midperipheral vision loss, tunnel vision, and sometimes blindness. In contrast to RP, CORD is characterized by a primary loss of cone photoreceptors and subsequent or simultaneous loss of rod photoreceptors. The disease in most cases becomes apparent during primary-school years, and symptoms include photoaversion, decrease in visual acuity with or without nystagmus, color vision defects, and decreased sensitivity of the central visual field. Because rods are also involved, night blindness and peripheral vision loss can occur. The diagnosis of CORD is mainly based on electroretinogram (ERG) recordings, in which cone responses are more severely reduced than, or equally as reduced as rod responses (summary by Estrada-Cuzcano et al., 2012).

CONE-ROD DYSTROPHY 16; CORD16 Is also known as retinal dystrophy with early macular involvement

Related symptoms:

  • Nystagmus
  • Cataract
  • Visual impairment
  • Myopia
  • Blindness


SOURCES: OMIM MENDELIAN

More info about CONE-ROD DYSTROPHY 16; CORD16

Low match OCULOAURICULAR SYNDROME, SCHORDERET TYPE


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

Low match MRCS SYNDROME


MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.

MRCS SYNDROME Is also known as microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome|vitreoretinochoroidopathy, autosomal dominant|advirc|vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos|vitreoretinochoroidopathy with microcornea, glaucoma, and cataract

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MRCS SYNDROME

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3


Autosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3 Is also known as strÜmpell disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Cataract
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

Low match AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME


Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.

AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME Is also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME

Low match LEBER CONGENITAL AMAUROSIS


Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.

LEBER CONGENITAL AMAUROSIS Is also known as crb|amaurosis congenita of leber i|lca|amaurosis congenita of leber|retinal blindness, congenital

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS

Top 5 symptoms//phenotypes associated to Cataract and Cone/cone-rod dystrophy

Symptoms // Phenotype % cases
Nystagmus Common - Between 50% and 80% cases
Rod-cone dystrophy Common - Between 50% and 80% cases
Visual impairment Common - Between 50% and 80% cases
Retinal dystrophy Common - Between 50% and 80% cases
Reduced visual acuity Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cataract and Cone/cone-rod dystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Abnormality of skin pigmentation

Uncommon Symptoms - Between 30% and 50% cases


Glaucoma Blindness Congenital cataract Microphthalmia Macular atrophy Strabismus Optic disc pallor Pigmentary retinopathy Visual loss Retinopathy Photophobia Abnormality of the eye Nyctalopia Myopia Retinal degeneration Global developmental delay Hypermetropia Retinal detachment Pallor Retinal atrophy Subcapsular cataract Intellectual disability

Rare Symptoms - Less than 30% cases


Seizures Shallow anterior chamber Growth delay Abnormality of the kidney Intellectual disability, severe Hypopigmentation of the skin High hypermetropia Bone spicule pigmentation of the retina Cystoid macular edema Obesity Abnormality of retinal pigmentation Polydactyly Abnormality of neuronal migration High myopia Abnormality of color vision Peripheral visual field loss Microcornea Abnormality of the skeletal system Postaxial polydactyly Hypertonia Hearing impairment Vitreous hemorrhage Progressive visual loss Posterior subcapsular cataract Astigmatism Abnormal electroretinogram Abnormal retinal morphology Retinal pigment epithelial atrophy Coloboma Pendular nystagmus Optic atrophy Microcephaly Scoliosis Spasticity Hyperreflexia Wide nasal bridge Intrauterine growth retardation Anteverted nares Short stature Hyperthreoninuria Eye poking Cerebral atrophy Cerebellar hypoplasia Cerebral cortical atrophy Protruding ear Generalized hypotonia Situs inversus totalis Pachygyria Urinary urgency Renal dysplasia Frequent falls Lower limb spasticity Spastic gait Impaired vibratory sensation Toe walking Macular dystrophy Hyperesthesia Lower limb hyperreflexia Ankle clonus Distal lower limb amyotrophy Distal lower limb muscle weakness Cystic renal dysplasia Lower limb hypertonia Hydrometrocolpos Sloping forehead Fundus atrophy Severe vision loss Aplasia/Hypoplasia of the cerebellar vermis Talipes Talipes equinovalgus Narrow forehead Cerebellar vermis hypoplasia Encephalocele Exotropia Abnormality of the optic disc Thin upper lip vermilion Decreased light- and dark-adapted electroretinogram amplitude Low anterior hairline Hemiplegia/hemiparesis Keratoconus Hyperactive deep tendon reflexes Congenital blindness Short philtrum Coarse facial features Lymphedema Vitreoretinopathy Pointed chin Aplasia/Hypoplasia of the cerebellum Abdominal situs inversus Cortical gyral simplification Biparietal narrowing Abnormal eyelash morphology Retinal fold Mandibular prognathia Chorioretinal dysplasia Hypertelorism Sensorineural hearing impairment Muscular hypotonia Hepatomegaly Tremor Dilatation Bradykinesia Gait disturbance Rigidity Macular degeneration Chorioretinal degeneration Temporal optic disc pallor Beaten bronze macular sheen Abnormality of the pinna Corneal opacity Iris coloboma Spina bifida Abnormality of vision Horizontal nystagmus Spina bifida occulta Chorioretinal coloboma Abnormality of the ear Congenital nystagmus Posterior embryotoxon Increased intraocular pressure Attenuation of retinal blood vessels Glucose intolerance Anterior segment developmental abnormality Retinoschisis Macular schisis Mizuo phenomenon Electronegative electroretinogram Moderate vision loss Drusen Leakage of dye on fundus fluorescein angiography Foveal atrophy Abnormal light- and dark-adapted electroretinogram Constriction of peripheral visual field Scleral thickening Optic disc drusen Foveoschisis Macular thickening Leukocoria Hyperlipidemia Hand polydactyly Sclerocornea Anterior synechiae of the anterior chamber Hypogonadism Abnormality of eye movement Peripheral retinal atrophy Posterior staphyloma Optically empty vitreous Angle closure glaucoma Chorioretinal hypopigmentation Abnormality of chorioretinal pigmentation Retinal arteriolar occlusion Ataxia Moderate myopia Epiretinal membrane Cognitive impairment Motor delay Peripheral neuropathy Dysarthria Peripheral cystoid retinal degeneration Babinski sign Retinal arteriolar constriction Retinal neovascularization Nasolacrimal duct obstruction Iris cyst Macular hypoplasia Polar cataract Posterior synechiae of the anterior chamber Short mandibular rami Microphakia Exodeviation Inferior chorioretinal coloboma Edema Presenile cataracts Falls Chorioretinal atrophy Dyschromatopsia Macular edema Cone dysfunction syndrome Scleral staphyloma Pulverulent cataract Hyperthreoninemia



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