Disease relevance of Retinal Dysplasia

• Five lineages produced 'squinting' transgenic mice characterized by microphthalmic eyes with severe lens and retinal dysplasia, and four lineages produced 'bulged' transgenic mice with eyes that exhibited enlarged globes, lens epithelial hyperplasia, anterior segment dysgenesis, and in some cases retinal dysplasia [1].
• Axon fasciculation defects and retinal dysplasias in mice lacking the immunoglobulin superfamily adhesion molecule BEN/ALCAM/SC1 [2].
• Transgenic mice expressing the large T-antigen of the simian virus 40 (SV 40) under the control of 1) the enhancer of Moloney murine sarcoma virus (MSV) and 2) the SV 40 promoter develop undifferentiated neuroectodermal tumors located in the midline of the dorsal brain surface, abnormalities in lens fiber differentiation and retinal dysplasia [3].
• We analyzed five patients with congenital muscular dystrophy from four families who had severe eye and brain anomalies, such as retinal dysplasia and hydrocephalus, using polymorphic microsatellite markers flanking the Fukuyama-type congenital muscular dystrophy locus on chromosome 9q31 [4].

Psychiatry related information on Retinal Dysplasia

• Norrie disease is an X-linked retinal dysplasia that presents with congenital blindness, sensorineural deafness, and mental retardation [5].

High impact information on Retinal Dysplasia

• A form of JS that includes retinal dysplasia and cystic dysplastic kidneys has been differentiated from other forms of JS, called either "JS type B" or "cerebello-oculo-renal syndrome" (CORS), but the genetic basis of this condition is unknown [6].
• Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice [7].
• Retinal dysplasia and degeneration in RARbeta2/RARgamma2 compound mutant mice [8].
• Due to ophthalmological and audio-otological findings, including bilateral retinal dysplasia and detachment, progressive bilateral sensorineural hearing loss, and an X-linked pattern of inheritance, a tentative diagnosis of Norrie disease was considered [9].
• Deletion of Ink4d and Kip1 also exacerbated the retinal dysplasia observed in Kip1-null mice, which was shown to be partly dependent on p53 [10].

Chemical compound and disease context of Retinal Dysplasia

• Experimental retinal dysplasia due to cytosine arabinoside [11].

Biological context of Retinal Dysplasia

• This decrease of the amount of QN1 protein results in additional mitosis and in severe abnormalities such as retinal dysplasia [12].

Gene context of Retinal Dysplasia

• Earlier studies have shown that rd7 mice have a distinctive pattern of retinal dysplasia with an increased number of cone cells, particularly those with S (short wavelength)-opsin immunoreactivity [13].
• Our results indicate that large T antigen seems to play an important role in cataract formation but not in the pathogenesis of retinal dysplasia [14].
• Type II lissencephaly and retinal dysplasia are characteristic of WWS [15].
• In retinal dysplasia, neuron specific enolase and retinal S-antigen were diffusely expressed in the dysplastic rosettes, however, other antigen were not seen in those rosettes [16].
• Unilateral microphthalmia, retinal dysplasia and internal strabismus were the ocular findings [17].

References