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Hereditary Eye Diseases |11063|
Hereditary Eye Diseases Subsets
Albinism
Walker Syndrome
Gyrate Atrophy
Oculocerebral Syndromes
CODAS Syndrome
Galloway Syndrome
Duane Syndrome
See Also ↔
 
 
“Hereditary Eye Diseases (Hereditary Ocular Diseases)”  

Hereditary Eye Diseases

  In our body's eyes, the Hereditary Eye Disease is the transmission of gene defects or of chromosomal aberrations/abnormalities, expressed in extreme variations of the eye in either the structure or function.
  Examples of some hereditary eye dis-orders & related dis-eases include:
  1. Aicardi syndrome
  2. Albinism   +
  3. Aniridia   +
  4. Choroideremia
  5. Coloboma   +
  6. Cone Dystrophy   +
  7. Cone-Rod Dystrophies
  8. Hereditary Corneal Dystrophies   +
  9. Duane Retraction Syndrome
  10. Graves Ophthalmopathy
  11. Gyrate Atrophy
  12. Leber Congenital Amaurosis
  13. Hereditary Optic Atrophies   +
  14. Retinal Degeneration
  15. Retinal Dysplasia
  16. Retinitis Pigmentosa   +
  17. Retinoblastoma
  18. Walker-Warburg Syndrome
  19. Weill-Marchesani Syndrome *
[11065]
“Aicardi's Syndrome”  

Aicardi Syndrome

  In our body, the rare x-linked genetic dis-order, Aicardi Syndrome, as a hereditary eye dis-order is a corpus callosum agenesis with chorioretinal abnormalities, associated with health challenges involving the corpus callosum (colossal commissure). **
[19287]
“Aniridia (Irideremia)”  

Aniridia

  In our body's eyes, the eye abnormality, Aniridia (Irideremia) is an inherited ocular disorde (and an iris dis-order) associated with an anterior segment dysgenesis involving the absence of the colored part of the eye (iris), caused by either a penetrant injury or a congenital eye dis-order (congenital defect) due to a failure of the optic cup growth, which may cause a reduction in the sharpness of vision (visual acuity) and an increased sensitivity to light (photophobia).
  In our body's eyes, Aniridia, characterized by iris hypoplasia, may be associated with other health challenges such as in WAGR syndrome, Gillespie syndrome (aniridia cerebellar ataxia mental deficiency), and dysostosis. **
[14368]
“Choroideremia”  
  In our body's eyes, the x-linked genetic abnormality, Choroideremia is a choroidal dis-order, characterized by choroidal atrophy and degeneration of the retinal pigment epithelium causing nyctalopia (night blindness).
  In our body, Choroideremia is characterized by vision loss with progressive atrophy of the retinal photoreceptors, retinal pigment epithelium (RPE), and choriocapillaris, may also be associated with a dysostosis. **
[14792]
“Hereditary Corneal Dystrophies (Corneal Endothelium Dystrophy)”  

Corneal Endothelium Dystrophy

  In our body's eyes, the eye dis-order, Hereditary Corneal Dystrophies (Corneal Endothelium Dystrophy) is a bilateral hereditary corneal dystrophy disorders of the corneal endothelium (anterior chamber endothelium) on the cornea.
  In our body, Hereditary Corneal Dystrophy (Corneal Endothelium Dystrophy) is a a hereditary dysostosis eye dis-ease, indicative to a specific set of signs, symptoms or other health indicators, associated with an corneal endothelium (anterior chamber endothelium) health challenge.
  Examples of hereditary corneal dystrophies (corneal endothelium dystrophy) include: **
[12694]
“Graves' Ophthalmopathy”  

Graves Ophthalmopathy

  In our body's eyes, the thyroid dis-order, Graves' Ophthalmopathy, an autoimmune dis-order, is an extrathyroidal manifestation of Graves' dis-ease of the eye. **
[19497]
“Weill-Marchesani Syndrome (Spherophakia Brachymorphia Syndrome) ”  

GEMSS Syndrome (Spherophakia Brachymorphia Syndrome)

  In our body, the multisystemic with intellectual and skin anomalies, GEMSS Syndrome (Spherophakia Brachymorphia Syndrome), aka Weill-Marchesani Syndrome is a connective tissue developmental bone dis-order characterized by short stature, brachydactyly, joint stiffness, and characteristic eye anomalies including microspherophakia, ectopia of the lenses (ectopia lentis), severe myopia, and glaucoma.
  In our body, as an inborn genetic dis-order, Weill-Marchesani Syndrome (Spherophakia Brachymorphia Syndrome) is a connective tissue dis-order, indicative to a specific set of signs, symptoms or other health indicators, associated with a health challenge. **
[19952]
“Leber Congenital Amaurosis”  

Amaurosis Congenita of Leber

  In our body at birth as a congenital anomaly and eye dis-order, Amaurosis Congenita of Leber is an inherited degenerative retinal abnormality that primarily affects the retina, indicative to a specific set of signs, symptoms or other health indicators, characterized by severe loss of vision at birth.
  In our body, a facial feature of Amaurosis Congenita of Leber includes deeply set eyes. **
[18890]
“Retinal Dysplasia”  
  In our body's eyes, the eye abnormality, Retinal Dysplasia is a congenital hereditary eye dis-ease, often a bilateral retinal abnormality, characterized by the arrangement of outer nuclear retinal cells of the retina in a palisading or radiating pattern surrounding a central ocular space. **
[12118]
“Hereditary Optic Atrophies”  

Hereditary Optic Atrophy

  In our body, as congenital eye dis-orders, Hereditary Optic Atrophies are a group of nervous system heredodegenerative dis-orders that feature progressive visual loss in association with optic atrophy.
  In our body, the optic nerve dis-ease, Hereditary Optic Atrophies is an optic atrophy indicative to a specific set of signs, symptoms or other health indicators, may be associated with inherited bone formation or abnormality.
  Examples of conditions that include hereditary optic atrophies: **
[13675]
“Alstrom Syndrome (Alstrom Hallgren Syndrome)”  

Alstrom's Syndrome

  In our body, Alstrom's syndrome (Alstrom syndrome) is the allopathic name of a multiple system abnormality, indicative to a specific set of signs, symptoms or other health indicators, associated with a hereditary eye dis-ease, retinitis pigmentosa, and hereditary sensory and motor neuropathies, caused by mutations in the ALMS1 gene.
  In our body, Alstrom's syndrome (Alstrom syndrome) is associated as a ciliopathic dis-order. **
[13976]
References & Citations:
1. Carelli V. et al "A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16"   Hum Mol Genet. 2011 May 15;20(10):1893-905  
2. Sarikaya E. et al "Hypergonadotropic hypogonadism, progressive early-onset spinocerebellar ataxia, and late-onset sensorineural hearing loss: case report and literature review"   Balkan J Med Genet. 2011 Dec;14(2):77-88  
3. Marshall JD. et al "Alström syndrome: genetics and clinical overview"   Curr Genomics. 2011 May;12(3):225-35  
4. Collin GB. et al "Homozygosity mapping at Alström syndrome to chromosome 2p"   Hum Mol Genet. 1997 Feb;6(2):213-9  
5. Stapleton P. et al "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9"   Nat Genet. 1993 Apr;3(4):292-8  
6. Kleinjan DA. et al "Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance"   Mamm Genome 2002 Feb;13(2)102-107  
7. Jordan T. et al "The human PAX6 gene is mutated in two patients with aniridia"   Nat Genet 1992 Aug;1(5):328-32  
8. Mukkamala K. et al "Choroideremia in a woman with ectodermal dysplasia and complex translocations involving chromosomes X, 1, and 3"   Ophthalmic Genet. 2010 Dec;31(4):178-82  
9. Mücke J. et al "MIDAS syndrome respectively MLS syndrome: a separate entity rather than a particular lyonization pattern of the gene causing Goltz syndrome"   Am J Med Genet. 1995 May 22;57(1):117-8  
10. Faivre L. et al "In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome"   J Med Genet. 2003 Jan;40(1):34-6  
 
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