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macular degeneration, age-related, 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Peripheral axonal neuropathy; and very common findings: Distal amyotrophy, Distal muscle weakness, and Distal sensory impairment. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Peripheral axonal neuropathy
Bones and joints	1	Joint hypermobility
Muscles	1	Distal muscle weakness
Eyes	1	Macular degeneration
Skin	1	Hyperextensible skin

Age of onset: later in life.

GeneReviews

Clinical Guidance

Autosomal Recessive FBLN5-Related Cutis Laxa

To date, six families with autosomal recessive FBLN5-related cutis laxa have been described [, , , , , , ]. Intrafamilial variability in age of onset is observed. Cutis laxa. The most common finding in FBLN5-related cutis laxa is described as furrowing of the skin of the whole body that is particularly obvious in the neck, axillae, and groin. The face has a "droopy" appearance with eyelid ptosis and drooping cheeks. When one tries to extend the skin, it does not display hyperelasticity as in the Ehlers-Danlos syndromes, but rather keeps its consistency. Pulmonary emphysema. Most affected individuals have early childhood-onset pulmonary emphysema, and some individuals have presented with emphysema during the neonatal period.

Source: GeneReviews — "FBLN5-Related Cutis Laxa"

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

FBLN5-related cutis laxa should be suspected in individuals with the following clinical features:

Cutis laxa
Pulmonary emphysema
Arterial involvement (e.g., peripheral pulmonary artery stenosis, supravalvar aortic stenosis)
Inguinal hernias
Hollow viscus diverticula (e.g., intestine, bladder)
Pyloric stenosis

Establishing the Diagnosis

The diagnosis of FBLN5-related cutis laxa is established in a proband with the above and biallelic pathogenic (or likely pathogenic) variants in FBLN5 (autosomal recessive FBLN5-related cutis laxa) or a heterozygous pathogenic (or likely pathogenic) variant in FBLN5 (autosomal dominant FBLN5-related cutis laxa) identified by molecular genetic testing .

Source: GeneReviews — "FBLN5-Related Cutis Laxa"

GeneReviews

Differential Diagnosis

Other disorders characterized by cutis laxa are summarized in . EFEMP2-related cutis laxa (ARCL1B). EFEMP2-related cutis laxa is characterized by cutis laxa and systemic involvement, most commonly arterial tortuosity, aneurysms, and stenosis; retrognathia; joint laxity; and arachnodactyly. Severity ranges from perinatal lethality as a result of cardiopulmonary failure to manifestations limited to the vascular and craniofacial systems. The cutis laxa and emphysema are similar in FBLN4- or FBLN5-related cutis laxa; however, to date, the diaphragmatic changes and arterial aneurysms seem more predominant in EFEMP2-related cutis laxa. ATP6V0A2-related cutis laxa (ARCL2A) spans a phenotypic spectrum that includes Debr-type cutis laxa at the severe end and wrinkly skin syndrome at the mild end.

Source: GeneReviews — "FBLN5-Related Cutis Laxa"

Genetic testing for FBLN5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for macular degeneration, age-related, 3 has been reported in the published literature.

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 macular degeneration, age-related, 3. The disease remains an area of unmet medical need.

Gene therapy approaches for macular degeneration, age-related, 3 have been reported in the published literature.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with FBLN5-related cutis laxa, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with FBLN5-Related Cutis Laxa

System/Concern	Evaluation	Comment
Cardiovascular	Echocardiogram	Consider pulmonary vessel angiogram if clinically indicated.
Renal	Kidney ultrasound exam	Consider voiding cystoureterogram, given potential presence of urethral diverticula; catheterization should be done carefully. IV pyelogram may be an alternative.
Gastrointestinal	Exam for inguinal hernia	Barium enema if clinically indicated
Other	Consultation w/clinical geneticist /or genetic counselor	IV = intravenous Treatment of Manifestations Table 4. Treatment of Manifestations in Individuals with FBLN5-Related Cutis Laxa Manifestation/Concern

Source: GeneReviews — "FBLN5-Related Cutis Laxa"

Clinical Trials

View trials for macular degeneration, age-related, 3

Explore Trials

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 macular degeneration, age-related, 3.

133 publications have been identified in PubMed for macular degeneration, age-related, 3. Research spans Epidemiology / Natural History (33%), Basic Science / Preclinical (19%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Disease patterns and progression	44	33%
Laboratory research	25	19%
Research summaries	24	18%
Clinical study results	20	15%
Testing and diagnosis research	13	10%
New treatment approaches	4	3%
Patient case studies	3	2%

Recent Publications

Gale RP (2026). [PMID: 41861959](https://pubmed.ncbi.nlm.nih.gov/41861959/). *Ophthalmol Retina*. [Clinical Trial Publication]
Barthelemy N (2026). [PMID: 40893119](https://pubmed.ncbi.nlm.nih.gov/40893119/). *Retina*. [Clinical Trial Publication]
Mercuri S (2026). [PMID: 42222587](https://pubmed.ncbi.nlm.nih.gov/42222587/). *Ophthalmol Sci*. [Epidemiology / Natural History]
Barikian A (2026). [PMID: 40614931](https://pubmed.ncbi.nlm.nih.gov/40614931/). *Ophthalmol Retina*. [Epidemiology / Natural History]
Raming K (2026). [PMID: 41320134](https://pubmed.ncbi.nlm.nih.gov/41320134/). *Ophthalmology*. [Epidemiology / Natural History]
Brouwer NJ (2026). [PMID: 41216998](https://pubmed.ncbi.nlm.nih.gov/41216998/). *Acta Ophthalmol*. [Review / Meta-Analysis]
Zhang JH (2026). [PMID: 41539109](https://pubmed.ncbi.nlm.nih.gov/41539109/). *J Diabetes Complications*. [Basic Science / Preclinical]
Spaide RF (2026). [PMID: 41468573](https://pubmed.ncbi.nlm.nih.gov/41468573/). *Retina*. [Epidemiology / Natural History]
Gong X (2026). [PMID: 41683853](https://pubmed.ncbi.nlm.nih.gov/41683853/). *Int J Mol Sci*. [Review / Meta-Analysis]
Honjo J (2026). [PMID: 41212222](https://pubmed.ncbi.nlm.nih.gov/41212222/). *Graefes Arch Clin Exp Ophthalmol*. [Diagnostic / Biomarker]

Kisho

macular degeneration, age-related, 3

Overview

Clinical Presentation

Clinical Guidance

Autosomal Recessive FBLN5-Related Cutis Laxa

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Establishing the Diagnosis

Differential Diagnosis

Treatment

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

macular degeneration, age-related, 3

Overview

Clinical Presentation

Clinical Guidance

Autosomal Recessive FBLN5-Related Cutis Laxa

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Establishing the Diagnosis

Differential Diagnosis

Treatment

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team