ATF6-related retinopathy

MONDO:0100447

A retinopathy caused by biallelic variants in the AFT6 gene.

Also known as: ATF6 retinopathy, ATF6-related retinopathy, ACHM7, ATF6 achromatopsia, achromatopsia 7, achromatopsia caused by mutation in ATF6, achromatopsia type 7

26 clinical trials for this condition and its sub-types, 0 tagged with ATF6-related retinopathy itself.

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Where it sits in the disease tree

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Part of

↑ Inherited retinal dystrophy (513)

Sub-types of ATF6-related retinopathy

Achromatopsia 7 1 trial

Including sub-types (26) Tagged with ATF6-related retinopathy (0)

Trials to join now! 11 Not yet recruiting 3 Not yet finished but already full! 1 Completed 9 Terminated 2

Could a liver drug help people see color? tiny trial launched

Symptom relief Paused

This early-phase trial tests whether an FDA-approved drug called glycerol phenylbutyrate (PBA) can improve vision in people with a rare form of color blindness caused by mutations in the ATF6 gene. Only 2 participants are enrolled, and they will take PBA three times daily while t…

Early phase 1 • Sponsor: Columbia University • Aim: Symptom relief

Last updated Sep 13, 2026 00:00 UTC

ATF6-related retinopathy

Where it sits in the disease tree

Could a liver drug help people see color? tiny trial launched