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Macular degeneration, age-related, 3(ARMD3)

MedGen UID:: 373276
•Concept ID:: C1837187
•: Disease or Syndrome

Synonym:	ARMD3

Gene (location): Gene(s) directly associated with this condition or phenotype.	FBLN5 (14q32.12)

Monarch Initiative:	MONDO:0012145
OMIM®:	608895

Definition

Age-related macular degeneration-3 (ARMD3) is characterized by numerous small round yellow lesions visible at the temporal edge of the macula. Larger, less distinct yellow areas near the center of the macula are also observed, which represent areas of pigment epithelial detachment (Stone et al., 2004). For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see 603075. [from OMIM]

Clinical features

From HPO

Pes cavus

MedGen UID:: 675590
•Concept ID:: C0728829
•: Congenital Abnormality

An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).

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Decreased patellar reflex

MedGen UID:: 478814
•Concept ID:: C3277184
•: Finding

Decreased intensity of the patellar reflex (also known as the knee jerk reflex).

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Peripheral axonal neuropathy

MedGen UID:: 266071
•Concept ID:: C1263857
•: Disease or Syndrome

An abnormality characterized by disruption of the normal functioning of peripheral axons.

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Distal sensory impairment

MedGen UID:: 335722
•Concept ID:: C1847584
•: Finding

An abnormal reduction in sensation in the distal portions of the extremities.

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Decreased nerve conduction velocity

MedGen UID:: 347509
•Concept ID:: C1857640
•: Finding

A reduction in the speed at which electrical signals propagate along the axon of a neuron.

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Distal muscle weakness

MedGen UID:: 140883
•Concept ID:: C0427065
•: Finding

Reduced strength of the musculature of the distal extremities.

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Joint hypermobility

MedGen UID:: 336793
•Concept ID:: C1844820
•: Finding

The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.

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Distal amyotrophy

MedGen UID:: 338530
•Concept ID:: C1848736
•: Disease or Syndrome

Muscular atrophy affecting muscles in the distal portions of the extremities.

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Hyperextensible skin

MedGen UID:: 66023
•Concept ID:: C0241074
•: Finding

A condition in which the skin can be stretched beyond normal, and then returns to its initial position.

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Macular degeneration

MedGen UID:: 7434
•Concept ID:: C0024437
•: Disease or Syndrome

A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.

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Choroidal neovascularization

MedGen UID:: 154726
•Concept ID:: C0600518
•: Pathologic Function

Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.

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Drusen

MedGen UID:: 488956
•Concept ID:: C1260959
•: Finding

Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye.

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Abnormality of limbs
- Decreased patellar reflex
- Pes cavus
Abnormality of the eye
Abnormality of the integument
- Hyperextensible skin
Abnormality of the musculoskeletal system
Abnormality of the nervous system

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Abnormal posterior eye segment morphology
- Abnormal fundus morphology
  - Abnormal retinal morphology
    - Abnormal macular morphology
      - Macular degeneration
        Age-related macular degeneration
        Macular degeneration, age-related, 3

Professional guidelines

PubMed

Three-year follow-up of a pilot study of ranibizumab combined with proton beam irradiation as treatment for exudative age-related macular degeneration.

Park SS, Daftari I, Phillips T, Morse LS
Retina 2012 May;32(5):956-66. doi: 10.1097/IAE.0b013e31822a8d6a. PMID: 22183743

See all (1)

Recent clinical studies

Etiology

Visual Function in Older Eyes in Normal Macular Health: Association with Incident Early Age-Related Macular Degeneration 3 Years Later.

Owsley C, Clark ME, Huisingh CE, Curcio CA, McGwin G Jr
Invest Ophthalmol Vis Sci 2016 Apr;57(4):1782-9. doi: 10.1167/iovs.15-18962. PMID: 27074381 Free PMC Article

The Association Between Subretinal Drusenoid Deposits in Older Adults in Normal Macular Health and Incident Age-Related Macular Degeneration.

Huisingh C, McGwin G Jr, Neely D, Zarubina A, Clark M, Zhang Y, Curcio CA, Owsley C
Invest Ophthalmol Vis Sci 2016 Feb;57(2):739-45. doi: 10.1167/iovs.15-18316. PMID: 26906160 Free PMC Article

See all (2)

Diagnosis

Visual Function in Older Eyes in Normal Macular Health: Association with Incident Early Age-Related Macular Degeneration 3 Years Later.

Owsley C, Clark ME, Huisingh CE, Curcio CA, McGwin G Jr
Invest Ophthalmol Vis Sci 2016 Apr;57(4):1782-9. doi: 10.1167/iovs.15-18962. PMID: 27074381 Free PMC Article

See all (1)

Prognosis

Visual Function in Older Eyes in Normal Macular Health: Association with Incident Early Age-Related Macular Degeneration 3 Years Later.

Owsley C, Clark ME, Huisingh CE, Curcio CA, McGwin G Jr
Invest Ophthalmol Vis Sci 2016 Apr;57(4):1782-9. doi: 10.1167/iovs.15-18962. PMID: 27074381 Free PMC Article

The Association Between Subretinal Drusenoid Deposits in Older Adults in Normal Macular Health and Incident Age-Related Macular Degeneration.

Huisingh C, McGwin G Jr, Neely D, Zarubina A, Clark M, Zhang Y, Curcio CA, Owsley C
Invest Ophthalmol Vis Sci 2016 Feb;57(2):739-45. doi: 10.1167/iovs.15-18316. PMID: 26906160 Free PMC Article

See all (2)

MedGen

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Macular degeneration, age-related, 3(ARMD3)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Prognosis

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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