Optic atrophy, and Glaucoma

Diseases related with Optic atrophy and Glaucoma

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


Top matches:

Medium match GLAUCOMA, PRIMARY OPEN ANGLE; POAG


Quigley (1993) reviewed adult-onset primary open angle glaucoma, which combines a particular abnormal appearance of the optic disc (optic nerve head) with a slowly progressive loss of visual sensitivity. Many patients with glaucoma have intraocular pressures above the normal range, although this cannot be considered part of the definition of the disease, since some patients have normal intraocular pressures. Changes in the optic disc, either inherited or acquired, contribute to the development of the disorder, which leads to visual loss from increasing nerve fiber layer atrophy. Quigley et al. (1994) stated that POAG should be reviewed as a multifactorial disorder. Genetic Heterogeneity of Primary Open Angle GlaucomaOther forms of primary open angle glaucoma include GLC1A (OMIM ), caused by mutation in the MYOC gene (OMIM ) on chromosome 1q24.3-q25.2; GLC1B (OMIM ) on chromosome 2cen-q13; GLC1C (OMIM ) on chromosome 3q21-q24; GLC1D (OMIM ) on chromosome 8q23; GLC1F (OMIM ), caused by mutation in the ASB10 gene on chromosome 7q36; GLC1G (OMIM ), caused by mutation in the WDR36 gene (OMIM ) on chromosome 5q22; GLC1H (OMIM ) on chromosome 2p16-p15; GLC1I (OMIM ) on chromosome 15q11-q13; GLC1J (OMIM ) on chromosome 9q22; GLC1K (OMIM ) on chromosome 20p12; GLC1L (see {137750}) on chromosome 3p22-p21; GLC1M (OMIM ) on chromosome 5q22; GLC1N (OMIM ) on chromosome 15q22-q24; GLC1O (OMIM ), caused by mutation in the NTF4 gene (OMIM ) on chromosome 19q13.3; GLC1P (OMIM ), caused by an approximately 300-kb duplication on chromosome 12q24, most likely involving the TBK1 gene (OMIM ).Nail-patella syndrome (NPS ), which is caused by mutation in the LMX1B gene (OMIM ) on chromosome 9q34, has open angle glaucoma as a pleiotropic feature. Other Forms of GlaucomaFor a general description and a discussion of genetic heterogeneity of congenital forms of glaucoma, see GLC3A (OMIM ).See {606657} for a discussion of normal tension glaucoma (NTG) or normal pressure glaucoma (NPG), a subtype of POAG.

Related symptoms:

  • Hypertension
  • Peripheral neuropathy
  • Myopia
  • Optic atrophy
  • Blindness


SOURCES: OMIM MENDELIAN

More info about GLAUCOMA, PRIMARY OPEN ANGLE; POAG

Medium match ANIRIDIA 2; AN2


Related symptoms:

  • Cataract
  • Optic atrophy
  • Depressivity
  • Rod-cone dystrophy
  • Glaucoma


SOURCES: OMIM MESH MENDELIAN

More info about ANIRIDIA 2; AN2

Medium match WAGNER VITREORETINOPATHY; WGVRP


Wagner vitreoretinopathy is a rare vitreoretinal degeneration inherited as an autosomal dominant trait, first described in a large Swiss pedigree (Wagner, 1938) and subsequently identified in other families. Penetrance in Wagner syndrome is complete, and the disease manifests in childhood or adolescence with a progressive course. Affected individuals usually present with an 'empty' vitreous cavity with fibrillary condensation or avascular strands and veils. Additional features, which are variable and age-dependent, include chorioretinal atrophy with loss of the retinal pigment epithelium (RPE), lattice degeneration of the retina, complicated cataracts, mild myopia, and peripheral traction retinal detachment. Rod and cone electroretinography shows reduced b-wave amplitude and correlates with severe chorioretinal pathology. It is believed that liquefaction of vitreous initiates a degenerative cascade that results in the complex eye phenotype of Wagner syndrome (summary by Kloeckener-Gruissem et al., 2006). Patients with additional ocular features such as progressive nyctalopia (night blindness), visual field constriction, and chorioretinal atrophy, with loss of RPE and choriocapillaries on fluorescein angiography and rod-cone abnormalities on electroretinography, were initially believed to have a distinct clinical entity, which was designated 'erosive vitreoretinopathy' (ERVR). Extraocular abnormalities are not present in patients diagnosed with Wagner or erosive vitreoretinopathy (summary by Mukhopadhyay et al., 2006).

WAGNER VITREORETINOPATHY; WGVRP Is also known as erosive vitreoretinopathy|wagner syndrome 1|wagner vitreoretinal degeneration|hyaloideoretinal degeneration of wagner|wgn1|ervr

Related symptoms:

  • Cataract
  • Visual impairment
  • Myopia
  • Optic atrophy
  • Blindness


SOURCES: OMIM MENDELIAN

More info about WAGNER VITREORETINOPATHY; WGVRP

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Other less relevant matches:

Medium match EARLY-ONSET X-LINKED OPTIC ATROPHY


Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.

EARLY-ONSET X-LINKED OPTIC ATROPHY Is also known as optic atrophy, non-leber type, with early onset|optic atrophy type 2|opa2|non-leber type optic atrophy with early-onset|optic atrophy, x-linked

Related symptoms:

  • Intellectual disability
  • Peripheral neuropathy
  • Dysarthria
  • Optic atrophy
  • Tremor


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about EARLY-ONSET X-LINKED OPTIC ATROPHY

Medium match ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME


Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present (summary by Shah et al., 2014).For a discussion of genetic heterogeneity of Weill-Marchesani syndrome, see WMS1 (OMIM ).

ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME Is also known as wmsl|weill-marchesani-like syndrome|15q26.3 microdeletion syndrome

Related symptoms:

  • Short stature
  • Cataract
  • Brachydactyly
  • Myopia
  • Optic atrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME

Medium match UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY


Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY

Medium 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

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 45


Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 45 Is also known as autosomal recessive spastic paraplegia type 65|spg45|spg65

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 45

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75


Autosomal recessive spastic paraplegia type 75 is a rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75 Is also known as spg75

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75

Medium match RETINITIS PIGMENTOSA


Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract
  • Visual impairment


SOURCES: ORPHANET MENDELIAN

More info about RETINITIS PIGMENTOSA

Top 5 symptoms//phenotypes associated to Optic atrophy and Glaucoma

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
Blindness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Optic atrophy and Glaucoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus Visual impairment Babinski sign Reduced visual acuity Strabismus Sensorineural hearing impairment Hyperreflexia Spastic paraplegia Paraplegia Optic neuropathy Visual loss

Rare Symptoms - Less than 30% cases


Global developmental delay Temporal optic disc pallor Spasticity Abnormal cerebellum morphology Spastic gait Ophthalmoplegia Hearing impairment Short stature Progressive visual loss Pallor Neurodegeneration Dysarthria Abnormality of mitochondrial metabolism Visual field defect High myopia Retinal detachment Ectopia lentis Red-green dyschromatopsia Gait disturbance Dyschromatopsia Flexion contracture of toe Pendular nystagmus Genu recurvatum Urinary bladder sphincter dysfunction Ankle contracture Knee flexion contracture Hypoplasia of penis Lower limb spasticity Type II diabetes mellitus Hypoplasia of the corpus callosum Talipes equinovarus Motor delay Tritanomaly Flexion contracture Conductive hearing impairment Microcephaly Abnormal electroretinogram Hyperinsulinemia Abnormal amplitude of pattern reversal visual evoked potentials Keratoconus Atypical scarring of skin Abnormality of the testis Abnormality of the retinal vasculature Leber optic atrophy Centrocecal scotoma Abnormality of retinal pigmentation Titubation Areflexia of lower limbs Hypogonadism Spastic dysarthria Corpus callosum atrophy Distal lower limb amyotrophy Impaired vibratory sensation Spastic paraparesis Paraparesis Leukodystrophy Hyporeflexia of lower limbs Impaired distal vibration sensation Clonus Wide nasal bridge Anteverted nares Dysmetria Obesity Astigmatism Dysplastic corpus callosum Hyporeflexia Generalized hypotonia Cognitive impairment Ventriculomegaly Cerebellar atrophy Hypertonia Areflexia Difficulty walking Severe vision loss Neonatal hypotonia Intellectual disability, moderate Abnormal pyramidal sign Photophobia Abnormality of the cerebral white matter Hypermetropia Progressive external ophthalmoplegia Hypertension Central scotoma Chorioretinal dystrophy Hyperactive patellar reflex Absent Achilles reflex Dysdiadochokinesis Abnormality of the nervous system Tremor Ectopic fovea Peripheral tractional retinal detachment Erosive vitreoretinopathy Optically empty vitreous Moderate myopia Rhegmatogenous retinal detachment Vitreous floaters Presenile cataracts Mild myopia Exudative vitreoretinopathy Joint stiffness Sclerocornea Open angle glaucoma Depressivity Rod-cone dystrophy Aniridia Hypoplasia of the iris Hypoplasia of the fovea Lens subluxation Retinal pigment epithelial atrophy Nyctalopia Constriction of peripheral visual field Chorioretinal atrophy Retinal atrophy Abnormality of the vasculature Vitreoretinopathy Brachydactyly Short palm Scotoma Myopathy Chorioretinal coloboma Posterior embryotoxon Bilateral cleft lip Bilateral cleft lip and palate Neural tube defect Ataxia Proximal muscle weakness Iris coloboma Abnormality of the eye Muscle cramps Optic disc pallor Horizontal nystagmus External ophthalmoplegia Abnormality of color vision Hematuria Oral cleft Thickened skin Retinal hole Exotropia Increased intraocular pressure Anterior synechiae of the anterior chamber Mydriasis Iridodonesis Microspherophakia Phakodonesis Cleft upper lip Cleft palate Ptosis Microphthalmia Cleft lip Coloboma Corneal opacity Progressive night blindness



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Severe global developmental delay, related diseases and genetic alterations Hydrocephalus and Eczema, related diseases and genetic alterations Muscle weakness and Abnormality of skin pigmentation, related diseases and genetic alterations Muscle weakness and Inflammation of the large intestine, related diseases and genetic alterations Sensorineural hearing impairment and Genu valgum, related diseases and genetic alterations Generalized hypotonia and Visual impairment, related diseases and genetic alterations Intellectual disability and Abnormality of the eye, related diseases and genetic alterations

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