Cataract, and Progressive visual loss

Diseases related with Cataract and Progressive visual loss

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

Top matches:

Related symptoms:

  • Cataract
  • Visual loss
  • Rod-cone dystrophy
  • Pallor
  • Nyctalopia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 23; RP23

Low match ANIRIDIA 3; AN3

Related symptoms:

  • Cataract
  • Visual impairment
  • Glaucoma
  • Corneal opacity
  • Progressive visual loss


SOURCES: OMIM MENDELIAN

More info about ANIRIDIA 3; AN3

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EXUDATIVE VITREORETINOPATHY 6; EVR6

Other less relevant matches:

Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.

BIETTI CRYSTALLINE DYSTROPHY Is also known as bietti crystalline corneoretinal dystrophy|bcd|bietti crystalline retinopathy|bietti tapetoretinal degeneration with marginal corneal dystrophy|bietti crystalline dystrophy

Related symptoms:

  • Cataract
  • Visual impairment
  • Myopia
  • Blindness
  • Rod-cone dystrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BIETTI CRYSTALLINE DYSTROPHY

Low match CHOROIDEREMIA

Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.

CHOROIDEREMIA Is also known as tcd|chm|tapetochoroidal dystrophy|tapetochoroidal dystrophy, progressive

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOROIDEREMIA

Low match COATS DISEASE

Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.

COATS DISEASE Is also known as retinal telangiectasis|congenital retinal telangiectasia|leber miliary aneurysm

Related symptoms:

  • Strabismus
  • Cataract
  • Edema
  • Visual loss
  • Glaucoma


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about COATS DISEASE

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

Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995).For a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 (OMIM ). Genetic Heterogeneity of Usher syndrome Type IIIUsher syndrome type IIIB (OMIM ) is caused by mutation in the HARS gene (OMIM ) on chromosome 5q31.3.

USHER SYNDROME TYPE 3 Is also known as ush3|usher syndrome, type iii

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about USHER SYNDROME TYPE 3

Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported.

PROGRESSIVE RETINAL DYSTROPHY DUE TO RETINOL TRANSPORT DEFECT Is also known as retinol dystrophy-iris coloboma-comedogenic acne syndrome

Related symptoms:

  • Cataract
  • Visual impairment
  • Patent ductus arteriosus
  • Reduced visual acuity
  • Coloboma


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE RETINAL DYSTROPHY DUE TO RETINOL TRANSPORT DEFECT

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

Top 5 symptoms//phenotypes associated to Cataract and Progressive visual loss

Symptoms // Phenotype % cases
Visual impairment Common - Between 50% and 80% cases
Visual loss Common - Between 50% and 80% cases
Reduced visual acuity Uncommon - Between 30% and 50% cases
Retinal dystrophy Uncommon - Between 30% and 50% cases
Nyctalopia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Cataract and Progressive visual loss. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Rod-cone dystrophy Retinal degeneration Abnormal retinal morphology Abnormality of the eye Blindness Myopia Constriction of peripheral visual field Peripheral visual field loss Subcapsular cataract Scotoma Retinal atrophy Retinal detachment Abnormal electroretinogram Chorioretinal atrophy Glaucoma Abnormality of color vision

Rare Symptoms - Less than 30% cases

Abnormality of vision Cone/cone-rod dystrophy Hearing impairment Strabismus Macular atrophy Leukocoria Nystagmus Chorioretinal degeneration Progressive night blindness High myopia Retinopathy Pallor Posterior subcapsular cataract Astigmatism Iris hypopigmentation High hypermetropia Visual field defect Vestibular dysfunction Schizophrenia Progressive hearing impairment Hallucinations Attenuation of retinal blood vessels Bone spicule pigmentation of the retina Comedonal acne Anxiety Hyporeflexia Hemianopia Sensorineural hearing impairment Temporal optic disc pallor Neoplasm Ataxia Peripheral cystoid retinal degeneration Macular schisis Mizuo phenomenon Electronegative electroretinogram Depressivity Vestibular hypofunction Glucose intolerance Keratoconjunctivitis sicca Obesity Patchy atrophy of the retinal pigment epithelium Polydactyly Absent foveal reflex Photophobia Peripheral retinal atrophy Anterior segment developmental abnormality Leakage of dye on fundus fluorescein angiography Corneal neovascularization Ectopia pupillae Acne Abnormal cochlea morphology Abnormality of skin pigmentation Postaxial polydactyly Hypercholesterolemia Optic disc pallor Hyperlipidemia Microcornea Iris coloboma Coloboma Patent ductus arteriosus Hand polydactyly Moderate vision loss Abnormal macular morphology Foveal atrophy Congenital cataract Intellectual disability Marginal corneal dystrophy Ring scotoma Paracentral scotoma Scleral staphyloma Corneal crystals Abnormality of lipid metabolism Abnormality of blood and blood-forming tissues Corneal dystrophy Falciform retinal fold Central scotoma Posterior vitreous detachment Tractional retinal detachment Retinal exudate Cortical cataract Exudative vitreoretinopathy Retinal fold Vitreoretinopathy Aniridia Corneal opacity Eccentric visual fixation Abnormality of retinal pigmentation Olivopontocerebellar atrophy Retinoschisis Phthisis bulbi Vitreous hemorrhage Retinal pigment epithelial atrophy Macular degeneration Falls Abnormality of eye movement Hypermetropia Rubeosis iridis Exudative retinopathy Exudative retinal detachment Retinal telangiectasia Aplasia/Hypoplasia of the iris Decreased light- and dark-adapted electroretinogram amplitude Abnormal anterior chamber morphology Abnormality of the retinal vasculature Macular edema Abnormality of the vasculature Uveitis Telangiectasia Edema Choriocapillaris atrophy Mottled pigmentation Choroideremia Beaten bronze macular sheen


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