Multiple ocular defects, COL11A1-related
Also known as: COL11A1-related ocular syndrome · Multiple ocular anomalies COL11A1 · Stickler syndrome-like ocular defects · COL11A1 eye malformation
Overview
What it is
This genetic condition affects the development of the eyes due to a mutation in the COL11A1 gene, which is responsible for producing a specific type of collagen. Collagen is a crucial structural protein that helps maintain the shape and stability of various tissues inside the eye. Without properly functioning collagen, multiple parts of the eye fail to develop correctly, leading to severe structural defects.
How it presents
Owners typically notice signs in puppies or young dogs, which can include visible clouding of the lens (cataract), uncertain vision such as bumping into objects, or a retinal detachment. These developmental defects can progress to complete blindness.
Treatment
While the underlying condition is incurable, it often requires lifelong check-ups or specialized eye surgeries to relieve pain. These treatments typically cost between 1,500 and 6,000 EUR and do not guarantee that vision can be saved.
How it's tested
ECVO Augenuntersuchung (DOK)(ECVO-DOK)
Primary testEye examAugenuntersuchung durch ECVO-zertifizierten Augentierarzt (Dortmunder Kreis). Erkennt PRA, Katarakt, Entropium, CEA, MPP, RD u.a.
Issuing body: ECVO
Result scheme: Eye-ECVO
Embark Breed + Health Panel(Embark)
DNA testUS-Anbieter; 250+ genetische Erkrankungen + Abstammung. Anerkennung in DE/AT variiert je nach VDH-Verein.
Issuing body: Embark
Result scheme: Clear/Carrier/Affected
MyDogDNA Panel(MyDogDNA)
DNA testGenoscoper-basiertes Panel (Mars Petcare). 200+ Erkrankungen + Rassenkomposition.
Issuing body: MyDogDNA
Result scheme: Clear/Carrier/Affected
Feragen Komplettpaket (rassespezifisch)(Feragen-Panel)
DNA testRassespezifisches DNA-Panel (Feragen, Österreich) — gleiches Konzept wie Labogen.
Issuing body: Feragen
Result scheme: Clear/Carrier/Affected
Labogen Komplettpaket (rassespezifisch)(Labogen-Panel)
DNA testRassespezifisches DNA-Panel (Labogen / Laboklin) — bündelt alle relevanten Erbkrankheiten der Rasse in einem Test.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment costs. Actual costs depend on severity, clinic and region.
Frequently asked questions
What is Multiple ocular defects, COL11A1-related?
This genetic condition affects the development of the eyes due to a mutation in the COL11A1 gene, which is responsible for producing a specific type of collagen. Collagen is a crucial structural protein that helps maintain the shape and stability of various tissues inside the eye. Without properly functioning collagen, multiple parts of the eye fail to develop correctly, leading to severe structural defects.
How is Multiple ocular defects, COL11A1-related tested?
Tests currently in our database: ECVO Augenuntersuchung (DOK), Embark Breed + Health Panel, MyDogDNA Panel, Feragen Komplettpaket (rassespezifisch), Labogen Komplettpaket (rassespezifisch).
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.