SIX6-related eye malformation
Also known as: SIX6-related microphthalmia · SIX6 eye malformation · Anophthalmia/Microphthalmia SIX6-related · Ocular dysgenesis SIX6 · SIX6-assoziierte Augenfehlbildung · …
Overview
What it is
This is a congenital eye malformation caused by a genetic mutation in the SIX6 gene, which is crucial for normal eye development. The defect disrupts how the eye structures form in the womb, often resulting in microphthalmia, which means the eyeballs are abnormally small, or eyes that are incompletely developed. It is inherited in an autosomal-dominant manner, meaning a dog only needs to inherit one copy of the mutated gene to be affected.
How it presents
Owners will typically notice symptoms in puppies shortly after their eyes open, around two to three weeks of age. Affected puppies may have visibly tiny eyes, appear partially or completely blind, squint, or show signs of eye cloudiness and inflammation.
Treatment
While the underlying malformation cannot be cured, symptoms can be managed with lifelong anti-inflammatory eye drops, or in severe, painful cases, a one-time surgical removal of the affected eye. Management and surgical options typically cost between 300 and 2500 EUR depending on the severity and required interventions.
How it's tested
Labogen Komplettpaket (rassespezifisch)(Labogen-Panel)
Primary testDNA testRassespezifisches DNA-Panel (Labogen / Laboklin) — bündelt alle relevanten Erbkrankheiten der Rasse in einem Test.
Issuing body: Labogen
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
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
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is SIX6-related eye malformation?
This is a congenital eye malformation caused by a genetic mutation in the SIX6 gene, which is crucial for normal eye development. The defect disrupts how the eye structures form in the womb, often resulting in microphthalmia, which means the eyeballs are abnormally small, or eyes that are incompletely developed. It is inherited in an autosomal-dominant manner, meaning a dog only needs to inherit one copy of the mutated gene to be affected.
How is SIX6-related eye malformation tested?
Tests currently in our database: Labogen Komplettpaket (rassespezifisch), Feragen Komplettpaket (rassespezifisch), Embark Breed + Health Panel, MyDogDNA Panel.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.