Strabismus, and Optic disc pallor

Diseases related with Strabismus and Optic disc pallor

In the following list you will find some of the most common rare diseases related to Strabismus and Optic disc pallor that can help you solving undiagnosed cases.


Top matches:

Low match LEBER CONGENITAL AMAUROSIS 16; LCA16


Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS 16; LCA16

Low match LEBER CONGENITAL AMAUROSIS 14; LCA14


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 (Gu et al., 1997).For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (OMIM ); for retinitis pigmentosa, see {268000}.

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS 14; LCA14

Low match OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME


Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.

OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME Is also known as bbsoas|bosch-boonstra-schaaf optic atrophy syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE OPTIC ATROPHY, OPA7 TYPE


A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy.

Related symptoms:

  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE OPTIC ATROPHY, OPA7 TYPE

Low match AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY


Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY Is also known as autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency|scar18

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY

Low match OPTIC ATROPHY 1; OPA1


Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density (Votruba et al., 1998).Some patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see {125250}. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).Yu-Wai-Man et al. (2009) provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON ), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders. Genetic Heterogeneity of Optic AtrophyOptic atrophy-2 (OPA2 ) maps to chromosome Xp11.4-p11.21. OPA3 (OMIM ) is caused by mutation in the OPA3 gene (OMIM ) on chromosome 19q13. OPA4 (OMIM ) maps to chromosome 18q12.2-q12.3. OPA5 (OMIM ) is caused by mutation in the DNM1L gene (OMIM ) on chromosome 12p11. OPA6 (OMIM ) maps to chromosome 8q21-q22. OPA7 (OMIM ) is caused by mutation in the TMEM126A gene (OMIM ) on chromosome 11q14. OPA8 (OMIM ) maps to chromosome 16q21-q22. OPA9 (OMIM ) is caused by mutation in the ACO2 gene (OMIM ) on chromosome 22q13; OPA10 (OMIM ) is caused by mutation in the RTN4IP1 gene (OMIM ) on chromosome 6q21; and OPA11 (OMIM ) is caused by mutation in the YME1L1 gene (OMIM ) on chromosome 10p12.

OPTIC ATROPHY 1; OPA1 Is also known as kjer-type optic atrophy|optic atrophy, kjer type|oak|optic atrophy, juvenile

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY 1; OPA1

Low match MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2


Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature (summary by Martin et al., 2014).For a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8


Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

Low match SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME


Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).

SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME Is also known as sino syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME

Top 5 symptoms//phenotypes associated to Strabismus and Optic disc pallor

Symptoms // Phenotype % cases
Nystagmus Common - Between 50% and 80% cases
Visual impairment Common - Between 50% and 80% cases
Reduced visual acuity Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Strabismus and Optic disc pallor. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Pallor Optic atrophy Hyperreflexia Horizontal nystagmus Esotropia Gait disturbance Cataract Cerebral atrophy Ataxia

Rare Symptoms - Less than 30% cases


Microcephaly Hypoplasia of the corpus callosum Sensorineural hearing impairment Peripheral neuropathy Visual loss Progressive visual loss Exotropia Abnormality of mitochondrial metabolism Astigmatism Delayed speech and language development Optic neuropathy Scotoma External ophthalmoplegia Central scotoma Dyschromatopsia Seizures Visual field defect Dysarthria Cerebellar atrophy Spastic paraplegia Paraplegia Neurodegeneration Hearing impairment Ophthalmoplegia Rod-cone dystrophy Nyctalopia Severe vision loss Photophobia Retinal dystrophy Blindness Abnormal retinal morphology Congenital blindness Abnormal facial shape Lethargy Lactic acidosis Increased serum lactate Obsessive-compulsive behavior Tetraparesis Progressive neurologic deterioration Spastic tetraparesis Leukoencephalopathy Failure to thrive in infancy Stridor Brisk reflexes Irritability Dyspnea Developmental regression Acidosis Respiratory failure Encephalopathy Dystonia Hypertonia Anemia Spasticity Muscle weakness Failure to thrive Macular atrophy Cortical gyral simplification Hypoplasia of the brainstem Optic nerve hypoplasia Abnormality of the periventricular white matter Obesity Ventriculomegaly Ptosis Congenital microcephaly Hypoplasia of the pons Mild microcephaly Abnormality of visual evoked potentials Amblyopia Long eyelashes Frequent falls Low posterior hairline Wide intermamillary distance Thin upper lip vermilion Long philtrum Downslanted palpebral fissures Motor delay High palate Esophoria Prominent nose Full cheeks Agenesis of corpus callosum Prominent forehead Polyhydramnios Deeply set eye Muscular hypotonia of the trunk Hypermetropia Delayed myelination Abnormal CNS myelination Plagiocephaly Delayed gross motor development Progressive spastic paraplegia Partial agenesis of the corpus callosum Limb hypertonia Dilation of lateral ventricles Sloping forehead Severe short stature Microcornea Posterior subcapsular cataract Brain atrophy Unsteady gait Dysmetria Poor speech Abnormality of eye movement Neurological speech impairment Difficulty walking Gait ataxia Babinski sign Falls Hypopigmentation of the skin Subcapsular cataract Flexion contracture Cognitive impairment Motor axonal neuropathy Limb ataxia Undetectable electroretinogram Decreased light- and dark-adapted electroretinogram amplitude Bull's eye maculopathy Accommodative esotropia Constriction of peripheral visual field Epicanthus Anteverted nares Peripheral axonal neuropathy Hypertrophic cardiomyopathy Upslanted palpebral fissure Cardiomyopathy Protruding ear Prominent nasal bridge Tapered finger Apraxia Truncal ataxia Retinopathy Progressive external ophthalmoplegia Proptosis Cerebral visual impairment Cerebellar hypoplasia Microphthalmia Intrauterine growth retardation Micrognathia Growth delay Short stature Abnormal amplitude of pattern reversal visual evoked potentials Temporal optic disc pallor Centrocecal scotoma Tritanomaly Red-green dyschromatopsia Leber optic atrophy Abnormality of color vision Oculomotor apraxia Muscle cramps Pendular nystagmus Retinal pigment epithelial mottling Retinal degeneration Abnormality of the eye Proximal muscle weakness Glaucoma Myopathy Functional motor deficit Rotary nystagmus Cerebellar vermis atrophy Gaze-evoked nystagmus Dysdiadochokinesis Incoordination Broad finger



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