What is the human equivalent of Stargardt Disease (Discovered in the Labrador Retriever)?

OMIA links Stargardt Disease (Discovered in the Labrador Retriever) to its human counterpart in OMIM (OMIM 248200), the bridge to the deeper human-medicine literature for the same underlying biology.

Canine Mendelian disease record

Stargardt Disease (Discovered in the Labrador Retriever)

Q: How is Stargardt Disease (Discovered in the Labrador Retriever) inherited in dogs?

Stargardt Disease (Discovered in the Labrador Retriever) follows a Autosomal recessive inheritance pattern. It has been observed in 13 of 266 breeds screened in the Sniff Atlas.

Q: How well studied is Stargardt Disease (Discovered in the Labrador Retriever) in dogs?

OMIA curates 7 peer-reviewed references for Stargardt Disease (Discovered in the Labrador Retriever). The full, linked citation list is on this page.

Stargardt Disease (Discovered in the Labrador Retriever). Autosomal recessive. Observed in 13 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,662 dogs (Donner 2023). Per-dog phenotype outcome depends on penetrance, modifiers, and environment; the carrier frequencies below describe variant prevalence, not disease incidence.

OMIA identifier: OMIA:002179-9615
Inheritance: Autosomal recessive
Variant pathogenicity: Pathogenic
Source dataset: Sniff Atlas v1.0.1 / DOI

The Pathogenic grade describes the documented variant's causality, per the Animal Variant Classification Guidelines (AVCG; Boeykens et al. 2024, Front Vet Sci), an ACMG/AMP-style framework curated in OMIA. It grades the variant, not any individual dog. See the full classification table.

The human connection

A model of human severe early-childhood-onset retinal dystrophy

This is the canine counterpart of severe early-childhood-onset retinal dystrophy in people. That makes affected dogs a naturally-occurring model of the human disease, and it is part of why studying dogs moves medicine forward for everyone. It does not mean your dog has the human disease. It means the two share an underlying biology.

In people, the disease is described as: Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy.

In humans it is also called: EOSRD, SECORD, STGD1, early-onset severe retinal dystrophy, Stargardt disease 1.

MONDO:0009549 OMIM 248200

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). Sniff renders this as a model-of link; the canine disease remains the subject of this page.

About this disease

From OMIA's curated record

Documented in OMIA (Online Mendelian Inheritance in Animals). This describes the disease as recorded in the published literature, not a prediction for any individual dog. As of 2026-06-03.

Clinical features

Mäkeläinen et al. (2019): "The affected sib-pair . . . was visually impaired under both daylight and dimlight conditions when examined at 10 years of age. Their pupils were dilated under daylight conditions and pupillary light and dazzle reflexes were abnormal, whereas menace responses were present. On indirect ophthalmoscopy, the tapetal reflectivity varied between normal to grayish hyporeflection when the indirect ophthalmoscopy lens was tilted slightly back and forth, both in the visual streak, as well as in the more peripheral parts of the tapetal fundus in both eyes of the affected dogs. The visual streak is an area of high photoreceptor cell density in the canine retina, located superior to the optic disc and extending horizontally from the nasal to the temporal region . . . . Furthermore, a mild to moderate vascular attenuation was observed, as seen in the fundus photograph, taken at the age of 10 years, of the affected male (LAB4) and compared to a fundus photograph of an unaffected, age-matched Labrador retriever dog (LAB27) . . . . These ophthalmoscopic findings were symmetrical between the eyes of the affected dogs, diffusely spread over the tapetal fundus and not strictly confined to the visual streak or area centralis." Ekesten et al. (2022) studied "retinal appearance and morphology in Labrador retrievers (LRs) heterozygous and homozygous for an ABCA4 loss-of-function mutation. ... Abnormal appearance and morphology in the fovea equivalent are present in juvenile ABCA4InsC/InsC. In the older affected LRs, the visual streak and then the peripheral retina also develop an abnormal appearance. Vision deteriorates slowly, but some vision is retained throughout life. Older heterozygotes may show a mild retinal phenotype but no obvious visual impairment."

Molecular genetics

Mäkeläinen et al. (2019): "To study a novel form of retinal degeneration in Labrador retriever dogs with clinical signs indicating cone and rod degeneration, we used whole-genome sequencing [WGS] of an affected sib-pair and their unaffected parents. A frameshift insertion in the ATP binding cassette subfamily A member 4 (ABCA4) gene (c.4176insC), leading to a premature stop codon in exon 28 (p.F1393Lfs*1395), was identified." These same authors genotyped "eight additional clinically affected and fourteen unaffected Labrador retrievers. Out of these 22 dogs, 16 were related to the family quartet used in the WGS . . . . all eight affected individuals were homozygous for the ABCA4 insertion and the 14 unaffected individuals were either heterozygous or homozygous for the wild-type allele".

Human analog

OMIA links this condition to its human counterpart in OMIM (Mendelian Inheritance in Man), the place to read across to the deeper human literature for the same biology.

Disease · OMIM 248200 Gene · OMIM 601691

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:002179-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

Signs & cross-references

How it presents

Catalogued in the Mondo disease ontology (the cross-species disease identity used by the Monarch Initiative) as Stargardt disease (MONDO:0019353).

Phenotype terms: Human Phenotype Ontology + Mammalian Phenotype Ontology; disease terms: Mondo (Monarch Initiative). Cross-references curated by OMIA (doi:10.25910/2AMR-PV70, CC-BY 4.0).

The evidence

Published references

The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers. Showing 6 of 7.

Consensus guidelines for nomenclature of companion animal inherited retinal disorders. · Vet Ophthalmol · 2024 · PMID 38334230
Abnormal appearance of the area centralis in Labrador Retrievers with an ABCA4 loss-of-function mutation. · Transl Vis Sci Technol · 2022 · PMID 35201338
The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition · https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf · 2021
An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease. · PLoS Genet · 2019 · PMID 30889179
Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies. · Mol Genet Genomics · 2010 · PMID 20661590
Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs. · J Negat Results Biomed · 2006 · PMID 17134500

References curated by OMIA (Nicholas, Tammen & the Sydney Informatics Hub), doi:10.25910/2AMR-PV70 (CC-BY 4.0). Full list at the OMIA entry.

Predict a litter

Set each parent's status for Stargardt Disease (Discovered in the Labrador Retriever) and see the odds for their puppies. Single recessive variant, exact Mendelian math.

Parent A

Parent B

NNClear

NmCarrier

mmAffected

Clear25%

Carrier50%

Affected25%

These are the genetic odds for one known variant, not a promise: a real litter varies around them, and penetrance or other genes can change whether the condition ever appears. Use it to avoid pairing two carriers and to keep a line healthy, not to engineer a dog. Inheritance mode per OMIA.

Your breed

See what Stargardt Disease (Discovered in the Labrador Retriever) looks like in your dog's breed.

Carrier frequency by breed

Top 13 well-sampled breeds (n ≥ 50)

Maximum carrier frequency per breed across variants in the Donner 2023 cohort, with Wilson 95% confidence intervals. The list below is split into well-sampled breeds (n ≥ 50 tested) and small-sample breeds (n < 50, where the Wilson CI typically spans more than 20 percentage points and frequencies should not be compared directly to the well-sampled entries). Frequencies are population-level, not per-litter or per-line.

0%10%20%

Labrador Retriever11.2% · n 16,856

11.2%n 16,856

Schnauzer Giant0.22% · n 230

0.22%n 230

German Shorthaired Pointer0.12% · n 1,252

0.12%n 1,252

Pembroke Welsh Corgi<0.1% · n 4,371

<0.1%n 4,371

German Shepherd<0.1% · n 15,647

<0.1%n 15,647

Great Pyrenees<0.1% · n 1,985

<0.1%n 1,985

American Staffordshire Terrier<0.1% · n 42,793

<0.1%n 42,793

Rottweiler<0.1% · n 4,718

<0.1%n 4,718

Siberian Husky<0.1% · n 9,034

<0.1%n 9,034

Golden Retriever<0.1% · n 12,881

<0.1%n 12,881

Great Dane<0.1% · n 3,266

<0.1%n 3,266

Poodle Standard<0.1% · n 4,203

<0.1%n 4,203

Chihuahua<0.1% · n 4,273

<0.1%n 4,273

n = 121,509 dogs · Donner et al. 2023 carrier-screening cohort · Sniff Atlas

Each bar is one well-sampled breed; the whisker is its Wilson 95% CI, and fainter bars have wider intervals. Frequencies are population-level, not per-litter. Carrier status for Stargardt Disease (Discovered in the Labrador Retriever) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Labrador Retriever	11.2%	[10.7%, 11.6%]	16,856
Schnauzer Giant	0.22%	[0.0%, 2.0%]	230
German Shorthaired Pointer	0.12%	[0.0%, 0.5%]	1,252
Pembroke Welsh Corgi	<0.1%	[0.0%, 0.2%]	4,371
German Shepherd	<0.1%	[0.0%, 0.1%]	15,647
Great Pyrenees	<0.1%	[0.0%, 0.3%]	1,985
American Staffordshire Terrier	<0.1%	[0.0%, 0.1%]	42,793
Rottweiler	<0.1%	[0.0%, 0.1%]	4,718
Siberian Husky	<0.1%	[0.0%, 0.1%]	9,034
Golden Retriever	<0.1%	[0.0%, 0.1%]	12,881
Great Dane	<0.1%	[0.0%, 0.1%]	3,266
Poodle Standard	<0.1%	[0.0%, 0.1%]	4,203
Chihuahua	<0.1%	[0.0%, 0.1%]	4,273

253 additional breeds in the Donner 2023 cohort were tested but showed no carriers.

Penetrance

From genotype to phenotype

Carrier status is not the same as disease status. Penetrance is the fraction of at-risk dogs that develop the phenotype. The Donner 2023 S4 table tracks this for 1 variant(s) underlying this disease in the cohort.

At-risk dogs evaluated: 1
Phenotype confirmed: 1
Penetrance range: not yet quantifiable

Predicted disease relevance at the per-dog level is UNPROVEN. The carrier frequency is measured; phenotype outcome is governed by penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level carrier frequencies) and the upstream sources:

Sniff Atlas v1.0.1 for the per-breed carrier frequencies:
Gehring, M. (2026). Sniff Atlas v1.0.1. Zenodo. https://doi.org/10.5281/zenodo.20566358. CC-BY 4.0.
OMIA for the disease definition, inheritance, and gene assignment:
Nicholas, F. W., & Tammen, I. (2024). OMIA. Sydney Informatics Hub, The University of Sydney. https://doi.org/10.25910/2AMR-PV70. Entry: OMIA:002179-9615.
Donner et al. 2023 for the breed × variant carrier-frequency cohort:
Donner, J., Freyer, J., Davison, S., Anderson, H., Blades, M., Honkanen, L., et al. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics, 19(2), e1010651. https://doi.org/10.1371/journal.pgen.1010651.

Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.

Sniff Atlas v1.0.1, the source dataset for these frequencies.
Browse breeds, per-breed Mendelian profiles, including this disease in context.
OMIA entry OMIA:002179-9615, authoritative clinical reference.
About OMIA, the catalogue this record comes from, and how Sniff uses it.

Last updated June 20, 2026

Sources: Sniff Atlas v1.0.1 · OMIA OMIA:002179-9615 · Donner et al. 2023