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ectopia lentis et pupillae - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ectopia lentis et pupillae

MONDO:0009153

Also known as:ectopia lentis with ectopia of pupil

Overview

GeneticsAutosomal recessive · ADAMTSL4 (chr 1)

ResearchLimited published research (2 articles)

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.

Features include always present findings: Ectopia pupillae; and common findings: Iris transillumination defect and Ectopia lentis. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Retinal detachment, Cataract

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ADAMTSL4 encodes ADAMTS like 4 (1,074 aa). Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis Highest expression in Nerve Tibial (84.3 TPM) and Fallopian Tube (81.8 TPM).

Ectopia lentis et pupillae is associated with mutations in the ADAMTSL4 gene on chromosome 1.

ADAMTSL4 is classified as a druggable target (Druggable Genome category) with score 0.0.

39 pathogenic variants reported in ADAMTSL4 in ClinVar, including hotspot variant NP_001275536.1:p.Gln256fs (2-star review).

Variant	Significance

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

The spectrum of ADAMTSL4-related eye disorders is a continuum that includes the phenotypes known as autosomal recessive isolated ectopia lentis and ectopia lentis et pupillae as well as more minor eye anomalies with no displacement of the pupil and very mild displacement of the lens. Variability in the eye findings is observed among affected individuals in a family and between the eyes of the same individual. No formal diagnostic criteria have been published.

Suggestive Findings

ADAMTSL4-related eye disorders should be suspected in individuals with the following characteristics:

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 ectopia lentis et pupillae. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and the needs of an individual diagnosed with an ADAMTSL4-related eye disorder, routine ophthalmologic examination that includes the following is recommended if it has not already been completed:

Prognosis

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

GeneReviews

Surveillance Guidelines

Assess visual acuity, refractive error, and intraocular pressure one to three times per year: adults who are stable may be examined yearly, whereas children require more frequent examinations. Ultrasonography may be necessary to evaluate for retinal detachment if the view of the fundus is limited.

Source: GeneReviews — "ADAMTSL4-Related Eye Disorders"

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 ectopia lentis et pupillae.

2 publications have been identified in PubMed for ectopia lentis et pupillae. Research spans Basic Science / Preclinical (100%).

Recent Publications

Williams KM (2026). [PMID: 41243720](https://pubmed.ncbi.nlm.nih.gov/41243720/). *Clin Genet*. [Basic Science / Preclinical]
Tevar A (2025). [PMID: 40784650](https://pubmed.ncbi.nlm.nih.gov/40784650/). *Exp Eye Res*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 3:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:225200

GARD

Genetic and Rare Diseases Info Center

GARD:15164

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

ectopia lentis et pupillae

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Homocystinuria caused by cystathionine beta-synthase deficiency

Isolated sulfite oxidase deficiency

LTPBP2

Treatment of Manifestations

Clinical Trials

ectopia lentis et pupillae

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Homocystinuria caused by cystathionine beta-synthase deficiency

Isolated sulfite oxidase deficiency

LTPBP2

Treatment of Manifestations

Clinical Trials