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About 145 results

ALLMedicine™ Megalocornea Center

Research & Reviews  71 results

Alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation...
https://doi.org/10.1016/j.ejmg.2021.104209
European Journal of Medical Genetics; Vollbach K, Trepels-Kottek S et. al.

Mar 26th, 2021 - We present a male infant with alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and macrosomia/macrocephaly at birth. Whole-exome sequencing revealed a homozygous 2bp-insertion in the latent tran...

Venous stasis retinopathy in a ten-year-old boy with ocular hypertension: a case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7590457
BMC Ophthalmology; Stingl JV, Nunez LP et. al.

Oct 28th, 2020 - Central retinal vein occlusion is a variable disease pattern. Preliminary stages of a complete occlusion of the central vein, wich are subsumed under the term venous stasis retinopathy, may occur as transient blurred vision and with subtle alterat...

Ocular Manifestations of Chordin-like 1 Knockout Mice.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7415553
Cornea Chen D, Liu Y et. al.

May 26th, 2020 - In humans, loss-of-function mutations in the gene encoding Chordin-like 1 (CHRDL1) cause X-linked megalocornea (MGC1), characterized by bilateral corneal enlargement, decreased corneal thickness, and increased anterior chamber depth (ACD). We soug...

A severe case of Frank-ter Haar syndrome and literature review: Further delineation of ...
https://doi.org/10.1016/j.ejmg.2020.103857
European Journal of Medical Genetics; Durand B, Stoetzel C et. al.

Jan 24th, 2020 - Frank-ter Haar syndrome (FTHS) is a rare autosomal recessive syndrome resulting from mutations in the SH3PXD2B gene involved in the formation of podosomes and invadopodia which have a role in extracellular matrix remodelling and cell migration. FT...

A Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting With Congeni...
https://doi.org/10.1097/IJG.0000000000001420
Journal of Glaucoma; Ratukondla B, Prakash S et. al.

Dec 6th, 2019 - Frank Ter Haar syndrome (FTHS) is a rare autosomal recessive disorder with characteristic skeletal, cardiac, ocular, and craniofacial abnormalities. We report a sibling pair presenting with clinical features typical of FTHS, born to consanguineous...

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Clinicaltrials.gov  73 results

Alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation...
https://doi.org/10.1016/j.ejmg.2021.104209
European Journal of Medical Genetics; Vollbach K, Trepels-Kottek S et. al.

Mar 26th, 2021 - We present a male infant with alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and macrosomia/macrocephaly at birth. Whole-exome sequencing revealed a homozygous 2bp-insertion in the latent tran...

Venous stasis retinopathy in a ten-year-old boy with ocular hypertension: a case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7590457
BMC Ophthalmology; Stingl JV, Nunez LP et. al.

Oct 28th, 2020 - Central retinal vein occlusion is a variable disease pattern. Preliminary stages of a complete occlusion of the central vein, wich are subsumed under the term venous stasis retinopathy, may occur as transient blurred vision and with subtle alterat...

Ocular Manifestations of Chordin-like 1 Knockout Mice.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7415553
Cornea Chen D, Liu Y et. al.

May 26th, 2020 - In humans, loss-of-function mutations in the gene encoding Chordin-like 1 (CHRDL1) cause X-linked megalocornea (MGC1), characterized by bilateral corneal enlargement, decreased corneal thickness, and increased anterior chamber depth (ACD). We soug...

A severe case of Frank-ter Haar syndrome and literature review: Further delineation of ...
https://doi.org/10.1016/j.ejmg.2020.103857
European Journal of Medical Genetics; Durand B, Stoetzel C et. al.

Jan 24th, 2020 - Frank-ter Haar syndrome (FTHS) is a rare autosomal recessive syndrome resulting from mutations in the SH3PXD2B gene involved in the formation of podosomes and invadopodia which have a role in extracellular matrix remodelling and cell migration. FT...

A Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting With Congeni...
https://doi.org/10.1097/IJG.0000000000001420
Journal of Glaucoma; Ratukondla B, Prakash S et. al.

Dec 6th, 2019 - Frank Ter Haar syndrome (FTHS) is a rare autosomal recessive disorder with characteristic skeletal, cardiac, ocular, and craniofacial abnormalities. We report a sibling pair presenting with clinical features typical of FTHS, born to consanguineous...

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News  1 results

An Infant With Enlarged Corneas
https://www.medscape.com/viewarticle/542560_3

Sep 13th, 2006 - Discussion Congenital megalocornea is a rare inherited enlargement of the corneas often associated with dysgenesis of the trabecular meshwork, iris, or both. The pathophysiology of primary megalocornea is not completely understood, but it is belie...

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