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Collie Eye Anomaly (CEA), also known as choroidal hypoplasia, is a congenital developmental disorder affecting the development of the choroid, a vascular layer of the eye beneath the retina.

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Caractéristiques

Breeds

, , , , , , , , , , ,

Gene

Chromosome

37

Mutation

c.588+462_588+8260del

Mode of Inheritance

Autosomique récessif

Organ

Specimen

Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu

Also known as

cea; CEA/CH

Informations générales

Collie Eye Anomaly (CEA), also known as choroidal hypoplasia, is a congenital developmental disorder affecting the development of the choroid, a vascular layer of the eye beneath the retina. It is primarily found in Collie-related dogs such as the Collie, Border Collie, Australian Shepherd and Shetland Sheepdog. CEA is caused by a recessive mutation in the NHEJ1 gene and can lead to structural abnormalities in the eye that may impair vision or result in blindness.

Caractéristiques cliniques

CEA is present from birth and typically affects both eyes, although the severity may differ between them. Clinical signs can include underdeveloped or sunken eyes, a cloudy or dull appearance to the eyes, and varying degrees of vision loss. In more severe cases, additional abnormalities such as colobomas (optic nerve pits, parts of the eye are missing), retinal detachment, or intraocular bleeding may occur. Diagnosis is typically made through ophthalmologic examination by a veterinarian.

Additional Information

This genetic variant is not considered causative in certain breeds, such as the Danish Rough Collie and the Nova Scotia Duck Tolling Retriever.

Références

Pubmed ID: 17916641

Year published: 2007

Omia ID: 218

Omia variant ID: 632

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