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macular degeneration, early-onset (EOMD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

macular degeneration, early-onset

MONDO:0014501

Also known as:EOMD

Overview

GeneticsAutosomal dominant · FBN2 (chr 5)

OnsetADULT

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: Macular degeneration; and sometimes findings: Choroidal neovascularization. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	1	Macular degeneration
Bones and joints

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.

FBN2 encodes fibrillin 2 (2,912 aa). Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Highest expression in Cells Cultured fibroblasts (126.7 TPM) and Testis (6.0 TPM).

Macular degeneration, early-onset is associated with mutations in the FBN2 gene on chromosome 5.

The FBN2 protein participates in Elastic fibre formation pathway.

FBN2 is classified as a druggable target (Druggable Genome and Hormone Activity categories) with score 13.1.

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

Formal diagnostic criteria for congenital contractural arachnodactyly (CCA) have not been established.

Suggestive Findings

Classic CCA should be suspected in individuals with the following:

Arachnodactyly with positive wrist and thumb sign
Flexion contractures of multiple joints including elbows, knees, hips, ankles, and/or fingers

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, early-onset. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease in an individual diagnosed with congenital contractural arachnodactyly (CCA), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with Classic Congenital Contractural Arachnodactyly

Prognosis

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

GeneReviews

Surveillance Guidelines

Table 9. Recommended Surveillance for Individuals with Classic Congenital Contractural Arachnodactyly

System/Concern

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, early-onset.

44 publications have been identified in PubMed for macular degeneration, early-onset. Research spans Basic Science / Preclinical (39%), Epidemiology / Natural History (18%), and Case Report / Case Series (14%).

Research Type	Count	% of Total
Laboratory research	17	39%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 5:20 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616118

Questions for Your Care Team

→Should I pursue genetic testing for FBN2, and what would the results mean for my family?
→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

GeneReviews

Differential Diagnosis

Disorders with features that overlap with those of congenital contractural arachnodactyly (CCA) are summarized in . Table 4. Disorders to Consider in the Differential Diagnosis of Congenital Contractural Arachnodactyly (CCA)

DifferentialDiagnosisDisorder	Gene	MOI	Clinical Features of Differential Diagnosis Disorder
FBN1	AD	Marfanoid habitus, dolichostenomelia; Arachnodactyly; Pectus deformity, kyphoscoliosis; Muscle hypoplasia; Severe Marfan syndrome1 may be mistaken for severe CCA as both may have crumpled ears, contractures, cardiovascular abnormalities.2	Lens (sub)luxation; High myopia; Progressive aortic root dilatation; Neonates w/severe Marfan syndrome are usually very hypotonic have valvular anomalies ("floppy valves") /or aortic root dilatation, rather than the septal defects or interrupted aortic arch in severe CCA.
TGFBR2	AD	Arachnodactyly; Pectus deformity	Joint laxity; Thin skin; Hypertelorism, bifid uvula, cleft palate; Pectus deformity, scoliosis; (Progressive) aortic root dilatation – patent ductus arteriosus Stickler syndrome
COL11A2	ADAR4	Marfanoid body habitus (in some affected individuals), but usually secondary to a shortened trunk, rather than long-bone overgrowth	Joint laxity; Early-onset rapidly progressive myopia w/ risk of cataract, retinal detachment; Hearing loss (both conductive sensorineural); Midfacial underdevelopment cleft palate; Mild spondyloepiphyseal dysplasia /or precocious arthritis Homocystinuria
CBS	AR	Limited joint mobility; Dolichostenomelia; Arachnodactyly; Kyphoscoliosis	Lens (sub)luxation; Osteoporosis; DD in some; Predisposition to thromboembolism Distal arthrogryposes(DA) (OMIM PS108120)
TPM2	ADAR5	Medially overlapping fingers; Clenched fists; Ulnar deviation of fingers; Camptodactyly; Positional foot deformities; Clubfoot; Scoliosis	Absence of marfanoid habitus, arachnodactyly, contractures of knees elbows, crumpled ears; Additional features depending on DA subtype; Often pursed lips Bethlem myopathy (See Collagen Type VI-Related Disorders OMIM 616471.)
COL12A1	ADAR	Joint contractures; Muscular hypoplasia	Absence of marfanoid habitus, arachnodactyly, crumpled ears Van den Ende - Gupta syndrome (OMIM 600920)
SCARF2	AR	Contractures; Arachnodactyly; Pectus excavatum; Femoral bowing	...

Source: GeneReviews — "Congenital Contractural Arachnodactyly"

System/Concern	Evaluation	Comment
Musculoskeletal	Orthopedics: joint contractures, bowed long bones; kyphoscoliosis	Kyphoscoliosis may be congenital, is progressive, warrants early eval. Assessment by physiatrist, OT/PT of fine motor gross motor skills related to contractures muscular hypotonia
Cardiovascular	Assessment for aortic root dilatation	The risk for aortic root dilatation is low progression uncommon; but assessing aortic root dilatation at an early stage is important for determining frequency of further cardiovascular follow up.
Ophthalmologic	Flat cornea / keratoconus	Low risk
Orthodontic	Highly arched palate, dental crowding	A highly arched palate is also assoc w/ incidence of middle ear infections. Miscellaneous/
Other	Consultation w/clinical geneticist /or genetic counselor	OT = occupational therapy; PT = physical therapy Table 6.
Recommended Evaluations Following Initial Diagnosis in Infants with Severe Congenital Contractural Arachnodactyly System/Concern	Evaluation	Comment
Constitutional	Assess nutritional status, growth.	—
Musculoskeletal	Orthopedics: joint contractures, bowed long bones; kyphoscoliosis	Kyphoscoliosis is congenital, progressive, warrants early eval. Assessment by physiatrist, OT/PT of fine motor gross motor skills related to contractures muscular hypotonia
Cardiovascular	Assess for congenital heart disease.	Commonly atrial or ventricular septal defect, interrupted aortic arch; rarely aortic root dilatation. Valvular insufficiency may occur. Gastrointestinal/
Feeding	Assess for GI malformation: a "double bubble" sign on abdominal ultrasound is indicative of a duodenal atresia/obstruction.	Duodenal or esophageal atresia intestinal malrotation
Respiratory	Assess for respiratory insufficiency.	Most common cause of death, often resulting from tracheomalacia (due to pressure from vascular anomalies) respiratory infections. It is unclear if hypotonia, emphysema, /or left-sided congestive heart failure may contribute to the respiratory problems.
Ophthalmologic	Flat cornea / keratoconus	Low risk Miscellaneous/
Other	Consultation w/clinical geneticist /or genetic counselor	OT = occupational therapy; PT = physical therapy Treatment of Manifestations Table 7.
Treatment of Manifestations in Individuals with Classic Congenital Contractural Arachnodactyly Manifestation/Concern	Treatment	Considerations/Other
Musculoskeletal	By orthopedist	Contractures may require surgical release.; Clubfeet may require casting. By physiatrist, OT/PT
Cardiovascular	By cardiologist/cardiovascular surgeon	Aortic root dilatation is managed in a standard manner. See Marfan Syndrome (full text).
Ophthalmologic	By ophthalmologist	Correction of refractive errors; Keratoconus can be treated by scleral contact lenses. It is currently unknown if corneal crosslinking is safe /or useful in CCA.
Orthodontic	By orthodontist/dentist	Use of palatal expander may be indicated.; Dental crowding may necessitate extraction of molars. OT = occupational therapy; PT = physical therapy Table 8.

Kisho

macular degeneration, early-onset

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

macular degeneration, early-onset

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications