How is ATF6-related retinopathy diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for ATF6-related retinopathy?

Information about treatment is currently limited for this condition.

What complications can arise from ATF6-related retinopathy?

Complications from ATF6-related retinopathy can include worsening vision problems as the condition progresses. Since the disease affects the retina, it may lead to difficulties with seeing clearly or even vision loss over time. It’s important to monitor any changes in vision and discuss them with a specialist.

How does ATF6-related retinopathy affect daily life?

Living with ATF6-related retinopathy can impact daily activities, especially those that require good vision, like reading or driving. Patients may need to adapt their environment, such as using brighter lights or magnifying tools, to help with vision challenges. Support from family and friends can also be very helpful.

What is the prognosis for someone with ATF6-related retinopathy?

Currently, there is limited information about the long-term prognosis for individuals with ATF6-related retinopathy. Since the condition is rare and not much is known, it is important to have regular check-ups with an eye specialist to monitor any changes. Each person's experience may vary, so discussing concerns with a healthcare provider is essential.

Should I consider genetic counseling if I have ATF6-related retinopathy?

Yes, genetic counseling can be very helpful for families affected by ATF6-related retinopathy. A genetic counselor can provide information about the inheritance patterns of the condition and discuss family planning options. This can help families understand their risks and make informed decisions.

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ATF6-related retinopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ATF6-related retinopathy

MONDO:0100447

Also known as:ATF6 retinopathyACHM7ATF6 achromatopsia

Overview

A retinopathy caused by biallelic variants in the AFT6 gene.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma (which is often difficult to demonstrate), eccentric fixation, and reduced or complete lack of color discrimination. Hyperopia is common. Nystagmus develops during the first few weeks after birth and is followed by increased sensitivity to bright light. Best visual acuity varies with severity of the disease; it is 20/200 or less in complete achromatopsia and may be as high as 20/80 in incomplete achromatopsia. Visual acuity is usually stable over time, but both nystagmus and sensitivity to bright light may improve slightly.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Achromatopsia should be suspected in individuals with the following typical clinical findings, additional testing, and family history.

Clinical findings

Pendular nystagmus
Increased sensitivity to light (photophobia)
Eccentric fixation

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for ATF6-related retinopathy. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with achromatopsia, the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:

Standard clinical ophthalmologic evaluation and testing with attention to visual acuity and use of spectacles and/or contact lenses to achieve the best possible corrected visual acuity

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Ophthalmologic examination is indicated:

Every six to 12 months in children to monitor changes in refraction in order to achieve the best possible corrected visual acuity;
Every two to three years in adults.

Source: GeneReviews — "Achromatopsia"

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for ATF6-related retinopathy.

43 publications have been identified in PubMed for ATF6-related retinopathy. Research spans Epidemiology / Natural History (31%), Basic Science / Preclinical (24%), and Diagnostic / Biomarker (19%).

Research Type	Count	% of Total
Disease patterns and progression	13	31%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 3:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about ATF6-related retinopathy

ATF6-related retinopathy is a type of retinopathy that occurs due to changes in both copies (biallelic variants) of the ATF6 gene. This condition affects the retina, which is the light-sensitive tissue at the back of the eye, and can lead to vision problems. The disease is classified as a rare genetic condition.

Information about symptoms is currently limited for this condition.

ATF6-related retinopathy is caused by changes (variations) in both copies of the ATF6 gene. These genetic variants disrupt the normal function of the gene, leading to problems with the retina. There is currently limited information about additional causes or risk factors. Associated genes include ATF6.

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GeneReviews

Differential Diagnosis

Achromatopsia is readily recognized by its characteristic features . Conditions to consider in the differential diagnosis are congenital nystagmus (as nystagmus is usually one of the first manifestations) and cerebral achromatopsia or dyschromatopsia, which is associated with severe or total color vision deficits and can arise adventitiously after brain fever, cortical trauma, or cerebral infarction, especially involving lesions to the ventral occipital cortex . Inherited retinal dystrophies that may be confused with achromatopsia are summarized in . Table 3. Inherited Retinal Dystrophies to Consider in the Differential Diagnosis of Achromatopsia

Disorder	Gene(s)	MOI	Overlapping Clinical Features	Distinguishing Clinical Features	Comments
Blue-cone monochromatism1 (OMIM 303700)	OPN1LW; OPN1MW2	XL3	Severely visual acuity; Eccentric fixation; ± Infantile nystagmus; No obvious fundus abnormalities; Poor or no color discrimination4; Peak of photopic luminosity function is near 440 nm (the peak sensitivity of the S cones), not 507 nm (the peak sensitivity of the rods).	A special 4-color plate test or a 2-color filter test can clinically distinguish blue-cone monochromats from achromats (rod monochromats).; Cone ERG responses can be elicited by presenting blue flashes on a yellow background (because the S cones are functioning in addition to the rods).	—
Hereditary red-green color vision defects (OMIM 303800, 303900)	OPN1LW, OPN1MW	XL	Color vision defects5	In hereditary red-green color vision defects:; Most individuals w/protanomalous deuteranomalous color vision defects (i.e., anomalous trichromats) have no major problems in naming colors.	Clinical chart tests widely used to detect red-green color vision defects include Ishihara plates the American Optical HRR pseudoisochromatic plates.
OPN1SW	AD	Color confusion	Other non-congenital yellow-blue deficits (similar in some ways to tritan defects) may result from aging or disorders of choroid, pigment epithelium, retina, or optic nerve (e.g., optic atrophy type 1; OMIM 165500); they are usually progressive have other related signs; e.g.	—	—

Source: GeneReviews — "Achromatopsia"

Latest News & Developments

1 recent

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AI-curated news mentioning ATF6-related retinopathy

Updated Aug 25, 2026

Gene & Cell Therapy•

Pipeline & Approvals

•26 days ago(Aug 25)

First Gene Therapy Approved for Glycogen Storage Disease Type la - Endocrinology Advisor

The FDA approved Genglycos (pariglasgene brecaparvovec-opnr) to reduce daily cornstarch intake in patients aged 8 years and older with glycogen storage disease type Ia. Known as Von Gierke disease, GSDIa is a rare metabolic disorder caused by a mutation in the G6PC gene. This genetic variation leads to a deficiency in glucose-6-phosphatase (G6Pase), an enzyme needed to release glucose into the bloodstream. Without this enzyme, the body cannot properly maintain blood glucose levels, causing severe hypoglycemia and other serious metabolic complications · Pariglasgene brecaparvovec is an adeno-associated virus (AAV) serotype 8 based gene therapy that delivers a functional copy of the G6PC gene into liver cells, enabling the production of normally functioning G6Pase. Ultragenyx stated that as part of its postmarketing commitments to the FDA, the Company will provide 2 years of clinical data from open-label commercial treatment of 50 patients and 20 control patients through its existing GSDIa Disease Monitoring Program. ... Ultragenyx announces US FDA approval of Genglycos™ gene therapy, the first-ever FDA-approved treatment designed to treat the underlying cause of glycogen storage disease type Ia (GSDIa). “The reduced reliance on cornstarch, experienced by patients in our clinical studies, demonstrates this gene therapy’s ability to establish the normal breakdown of glycogen to produce glucose during fasting or episodes of metabolic stress. This ability to regulate glucose has alleviated the disease burden and has the potential to mitigate the risk of severe or life-threatening hypoglycemia for these patients.” Close more info about First Gene Therapy Approved for Glycogen Storage Disease Type la

View all news for ATF6-related retinopathy

Kisho

ATF6-related retinopathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Differential Diagnosis

Treatment of Manifestations

Surveillance

Agents/Circumstances to Avoid

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

First Gene Therapy Approved for Glycogen Storage Disease Type la - Endocrinology Advisor

ATF6-related retinopathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is ATF6-related retinopathy?

What are the symptoms of ATF6-related retinopathy?

What causes ATF6-related retinopathy?

How is ATF6-related retinopathy diagnosed?

Are there treatments for ATF6-related retinopathy?

What complications can arise from ATF6-related retinopathy?

How does ATF6-related retinopathy affect daily life?

What is the prognosis for someone with ATF6-related retinopathy?

Should I consider genetic counseling if I have ATF6-related retinopathy?

Differential Diagnosis

Treatment of Manifestations

Surveillance

Agents/Circumstances to Avoid

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

First Gene Therapy Approved for Glycogen Storage Disease Type la - Endocrinology Advisor