Myopia, and Retinopathy

Diseases related with Myopia and Retinopathy

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


Top matches:

High 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 X-LINKED INTELLECTUAL DISABILITY-RETINITIS PIGMENTOSA SYNDROME


X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.

X-LINKED INTELLECTUAL DISABILITY-RETINITIS PIGMENTOSA SYNDROME Is also known as retinitis pigmentosa and intellectual disability due to xp11.3 microdeletion|aldred syndrome|retinitis pigmentosa and intellectual disability due to del(x)(p11.3)|retinitis pigmentosa and intellectual disability due to monosomy xp11.3

Related symptoms:

  • Intellectual disability
  • Cataract
  • Visual impairment
  • Myopia
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-RETINITIS PIGMENTOSA SYNDROME

Low match BIETTI CRYSTALLINE DYSTROPHY


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

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Other less relevant 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 LEBER CONGENITAL AMAUROSIS 15; LCA15


Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (summary by Gu et al., 1997).Mutation in TULP1 can also cause a form of autosomal recessive retinitis pigmentosa (RP14 ).For a general phenotypic description and a discussion of the genetic heterogeneity of Leber congenital amaurosis, see LCA1 (OMIM ); for retinitis pigmentosa, see {268000}.

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Myopia
  • Edema
  • Blindness


SOURCES: OMIM MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS 15; LCA15

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 STICKLER SYNDROME TYPE 3


Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 3

Low match SJÖGREN-LARSSON SYNDROME


Sjögren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.

SJÖGREN-LARSSON SYNDROME Is also known as fatty acid alcohol oxidoreductase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about SJÖGREN-LARSSON SYNDROME

Low match GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY


Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2


MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 Is also known as muscular dystrophy, congenital, pomt2-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2

Top 5 symptoms//phenotypes associated to Myopia and Retinopathy

Symptoms // Phenotype % cases
Pigmentary retinopathy Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Visual impairment Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Blindness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Rod-cone dystrophy Nyctalopia Retinal atrophy Constriction of peripheral visual field Retinal dystrophy Abnormality of the eye Cone/cone-rod dystrophy Photophobia Reduced visual acuity High myopia Abnormal retinal morphology Retinal degeneration Visual loss Nystagmus Retinal detachment Glaucoma

Rare Symptoms - Less than 30% cases


Pallor Astigmatism Abnormality of skin pigmentation Optic disc pallor Edema Abnormality of color vision Macular edema Strabismus Sensorineural hearing impairment Muscle weakness Left ventricular systolic dysfunction Left ventricular hypertrophy Ventricular hypertrophy Microcephaly Scoliosis Proximal muscle weakness Elevated serum creatine phosphokinase Myopathy Respiratory insufficiency Cognitive impairment Cleft palate Global developmental delay Chorioretinal atrophy Congenital cataract Scleral staphyloma Progressive visual loss Abnormal vitreous humor morphology Scotoma Scarring Dilated cardiomyopathy Limb muscle weakness Distal amyotrophy Distal sensory impairment Chest pain Cardiomegaly Atrial fibrillation Psychosis Macroglossia Palpitations Decreased liver function Cardiac arrest Exercise intolerance Hyperlipidemia Ventricular tachycardia Abnormality of the liver Respiratory failure Cerebellar vermis hypoplasia Congestive heart failure Calf muscle hypertrophy Hypertension Hepatomegaly Skeletal muscle atrophy Gait disturbance Fatigue Respiratory distress Cardiomyopathy Depressivity Mental deterioration Arrhythmia Skeletal muscle hypertrophy Pes cavus Hyperactivity Congenital muscular dystrophy Hypertrophic cardiomyopathy Open mouth EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Abnormal electroretinogram Ventricular arrhythmia Dilatation Cryptorchidism Abnormality of the cerebral white matter Flexion contracture Motor delay Muscular dystrophy Ventriculomegaly Hypoplasia of the corpus callosum Intellectual disability, severe Hip dislocation Increased cerebral lipofuscin Areflexia Hyporeflexia Hyperlordosis Abnormal heart morphology Cerebellar hypoplasia Facial palsy Neonatal hypotonia Micropenis Generalized hypotonia Suicidal ideation Cerebral cortical atrophy Myocardial fibrosis Back pain Neurodevelopmental delay Generalized amyotrophy Hypokinesia Cardiorespiratory arrest Abnormality of the gastrointestinal tract Reduced ejection fraction Wolff-Parkinson-White syndrome Myofibrillar myopathy Macular hypopigmentation Skeletal myopathy Autophagic vacuoles Muscle flaccidity Retinal pigment epithelial mottling Exercise-induced muscle cramps Impaired myocardial contractility Ventricular preexcitation Myocardial necrosis Generalized muscle weakness Glycogen accumulation in muscle fiber lysosomes Spasticity Pain Dyschromatopsia Slow pupillary light response Mild hypermetropia Abnormality of the skeletal system Hypertonia Microphthalmia Hypopigmentation of the skin Microcornea Macular atrophy Vitreous hemorrhage Congenital nystagmus Cone dysfunction syndrome Cystoid macular edema Shallow anterior chamber Pulverulent cataract Presenile cataracts Retinal neovascularization Moderate myopia Retinal arteriolar constriction Peripheral retinal atrophy Impaired smooth pursuit Congenital blindness Optically empty vitreous Peripheral visual field loss Corneal opacity Iris hypopigmentation Decreased light- and dark-adapted electroretinogram amplitude Choroideremia Chorioretinal degeneration Mild myopia Corneal dystrophy Abnormality of blood and blood-forming tissues Abnormality of lipid metabolism Corneal crystals Keratoconus Progressive night blindness Paracentral scotoma Ring scotoma Marginal corneal dystrophy Coloboma Subcapsular cataract Posterior subcapsular cataract Hypermetropia Confusion Posterior staphyloma Angle closure glaucoma Inflammatory abnormality of the eye Abnormal pyramidal sign Seizures Short stature Muscular hypotonia Dysarthria Kyphosis Hyperkeratosis Skeletal dysplasia Erythema Joint stiffness Neurological speech impairment Pierre-Robin sequence Dry skin Ichthyosis Abnormality of retinal pigmentation Abnormality of dental enamel Macular degeneration Urticaria Spastic diplegia Generalized hyperpigmentation Corneal erosion Abnormal metacarpal morphology Exostoses Chorioretinal hypopigmentation Pectus excavatum Abnormality of chorioretinal pigmentation Retinal arteriolar occlusion Hearing impairment Micrognathia Depressed nasal bridge Anteverted nares Long philtrum Malar flattening Midface retrusion Arthralgia Glossoptosis Pectus carinatum Arachnodactyly Joint hypermobility Bifid uvula Mitral valve prolapse Osteoarthritis Spondyloepiphyseal dysplasia Long fingers Arthropathy Abnormality of the periventricular white matter



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