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Results 1 - 10 of 18 for Retinal dysplasia
  1. Walker-Warburg syndrome 
    ... COD-MD syndrome HARD syndrome Hydrocephalus, agyria, and retinal dysplasia MDDGA Muscular dystrophy-dystroglycanopathy (congenital with brain and ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - Genetics
  2. Mainzer-Saldino syndrome 
    ... Mainzer-Saldino chondrodysplasia Mainzer-Saldino disease MZSDS Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia Saldino- ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  3. Leber congenital amaurosis 
    ... retinal blindness CRB Dysgenesis neuroepithelialis retinae Hereditary epithelial dysplasia of retina Hereditary retinal aplasia Heredoretinopathia congenitalis LCA Leber abiotrophy ...
    https://medlineplus.gov/.../condition/leber-congenital-amaurosis - Genetics
  4. Senior-Løken syndrome 
    ... symptoms of the condition. Loken-Senior syndrome Renal dysplasia and retinal aplasia Renal-retinal syndrome Senior-Loken syndrome Genetic ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  5. Kniest dysplasia 
    ... Nakatani S, Murakami A. A case of Kniest dysplasia with retinal detachment and the mutation analysis. Am J Ophthalmol. 2003 Dec;136(6):1186-8. doi: 10.1016/s0002-9394(03)00713-x. Citation on PubMed
    https://medlineplus.gov/genetics/condition/kniest-dysplasia - Genetics
  6. Spondyloepimetaphyseal dysplasia, Strudwick type 
    ... and tearing of the lining of the eye (retinal detachment). This condition is rare; only a few affected individuals have been reported worldwide. Spondyloepimetaphyseal dysplasia, Strudwick type is one of a spectrum of ...
    https://medlineplus.gov/...loepimetaphyseal-dysplasia-strudwick-type - Genetics
  7. COL2A1 gene 
    ... retinal detachment. Rhegmatogenous retinal detachment occurs when the ... spondyloepiphyseal dysplasia (SED) due to COL2A1 mutation with early-onset ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  8. Asphyxiating thoracic dystrophy 
    ... pancreas, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss. Asphyxiating ... dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet. 2013 May;50(5): ...
    https://medlineplus.gov/.../asphyxiating-thoracic-dystrophy - Genetics
  9. Saul-Wilson syndrome 
    ... in which breakdown of the light-sensitive layer (retina) at the back of the eye can cause ... of the disorder in their family. Microcephalic osteodysplastic dysplasia Microcephalic osteodysplastic dysplasia Saul Wilson type Genetic Testing ...
    https://medlineplus.gov/genetics/condition/saul-wilson-syndrome - Genetics
  10. Norrie disease 
    ... after birth. It causes abnormal development of the retina, the layer of sensory cells that detect light and color, with masses of immature retinal cells accumulating at the back of the eye. ...
    https://medlineplus.gov/genetics/condition/norrie-disease - Genetics
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