Evidence That a Locus for Familial High Myopia Maps to Chromosome 18p

Young, Terri L.; Ronan, Shawn M.; Drahozal, Leslie A.; Wildenberg, Scott C.; Alvear, Alison; Oetting, William S.; Atwood, Larry D.; Wilkin, Douglas J.; King, Richard A.

doi:10.1086/301907

Cited by 175 publications

(124 citation statements)

References 39 publications

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“…The increased eye diameter observed in Lama1 ⌬ homozygotes also suggests a possible link to myopia, which is associated with increased eye size (53). Interestingly, a locus for high grade myopia-2 maps to a region on human chromosome 18 that contains LAMA1 (54,55). Finally, mutations in LAMB2 have recently been shown to cause Pierson disease, in which patients experience microcoria (narrowing of the pupils) as well as kidney and central nervous system abnormalities clinically characterized by microcoria (fixed narrowing of the pupils) (56).…”

Section: Discussionmentioning

confidence: 99%

Mutations in Lama1 Disrupt Retinal Vascular Development and Inner Limiting Membrane Formation

Edwards

Mammadova‐Bach

Alpy

et al. 2010

Journal of Biological Chemistry

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The Neuromutagenesis Facility at the Jackson Laboratory generated a mouse model of retinal vasculopathy, nmf223, which is characterized clinically by vitreal fibroplasia and vessel tortuosity. nmf223 homozygotes also have reduced electroretinogram responses, which are coupled histologically with a thinning of the inner nuclear layer. The nmf223 locus was mapped to chromosome 17, and a missense mutation was identified in Lama1 that leads to the substitution of cysteine for a tyrosine at amino acid 265 of laminin ␣1, a basement membrane protein.Despite normal localization of laminin ␣1 and other components of the inner limiting membrane, a reduced integrity of this structure was suggested by ectopic cells and blood vessels within the vitreous. Immunohistochemical characterization of nmf223 homozygous retinas demonstrated the abnormal migration of retinal astrocytes into the vitreous along with the persistence of hyaloid vasculature. The Y265C mutation significantly reduced laminin N-terminal domain (LN) interactions in a bacterial twohybrid system. Therefore, this mutation could affect interactions between laminin ␣1 and other laminin chains. To expand upon these findings, a Lama1 null mutant, Lama1 tm1.1Olf , was generated that exhibits a similar but more severe retinal phenotype than that seen in nmf223 homozygotes. The increased severity of the Lama1 null mutant phenotype is probably due to the complete loss of the inner limiting membrane in these mice. This first report of viable Lama1 mouse mutants emphasizes the importance of this gene in retinal development. The data presented herein suggest that hypomorphic mutations in human LAMA1 could lead to retinal disease.

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Section: Discussionmentioning

confidence: 99%

Mutations in Lama1 Disrupt Retinal Vascular Development and Inner Limiting Membrane Formation

Edwards

Mammadova‐Bach

Alpy

et al. 2010

Journal of Biological Chemistry

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“…Hereditary [17][18][19][20][21][22] and environmental [23][24][25] factors have been postulated to be responsible for myopia and myopic progression. Our study found that the incidence of children who revealed myopic progression or stability, or even regression may be related to whether or not their parent(s) suffered from myopia.…”

Section: Discussionmentioning

confidence: 99%

Long-term visual prognosis of infantile-onset high myopia

Shih

Hsiao

et al. 2005

Eye

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Purpose To investigate the clinical course and changes of refractive status in infantile-onset myopic children who received fully corrected glasses and to determine their visual prognosis. Methods In all, 57 children with infantileonset high myopia (spherical equivalent over À5.0 D prior to the age of 5 years) were included in this study. All children received initial full-correction glasses at the mean age of 3.52 years. The cycloplegic refraction, axial length, and the best-corrected visual acuity were collected every 6 months. The mean follow-up time was 9.36 years. Results We noted that the tendency toward progression or regression of myopia appeared to be related to the degree of refractive error. Lower grades of high myopia (À5.0 to À7.75 D) showed a greater tendency to progress than those of the highest initial myopic refraction level (rÀ11.0 D). While the latter group exhibited a more-substantial regression rate than those cases of the lower initial refraction level. About 80% of infantile-onset high myopes demonstrated a final best-corrected vision of greater than 20/40, with 37% of children revealing a best-corrected vision level even better than 20/25. Conclusion Clinical course of infantile high myopia is different to school myopia. Usually, higher degree of high myopia showed a stable state of myopia, or even possible regression, whereas the lower grades of high myopia revealed a strong tendency to progress.

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“…Porém, a dificuldade no diagnóstico diferencial com outras alterações genéticas como a síndrome de Marshall ou fenótipo Marshall/ Stickler (21) , síndrome de Wagner (20,23) , alta miopia familial (26) , subestima o número de pacientes com síndrome de Stickler.…”

Section: Discussionunclassified

“…Toda miopia em criança deve ser acompanhada com muito cuidado, sempre pesquisando alterações sistêmicas, já que muitas são as síndromes genéticas que cursam com miopia congênita, dentre elas: síndrome de Down, síndrome de Marfan, homocistinúria, síndrome de Ehlers-Danlos, síndrome de Stickler, síndrome de Pierre-Robin, síndrome de Prader-Willi, síndrome de Noonan entre outras (26,28) . A miopia presente na SS tipo II é descrita normalmente como não progressiva.…”

Section: Discussionunclassified