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Age related macular degeneration 1 (ARMD1) is a form of age-related macular degeneration linked to a specific genetic locus on chromosome 1q25.3-q31.1, catalogued in OMIM (entry 603075). The condition presents with characteristic retinal changes in later adulthood and follows an autosomal dominant inheritance pattern, meaning one altered copy of the associated genomic region is sufficient to confer susceptibility.
Macular drusen are an obligate feature, present in all individuals with ARMD1. Macular degeneration itself is very frequently observed, affecting 80–99% of cases. Geographic atrophy—progressive loss of retinal pigment epithelial cells—occurs in approximately 30–79% of individuals. Macular hemorrhage is an occasional finding, present in about 5–29% of cases. The severity of central vision loss and rate of progression vary among individuals.
ARMD1 is inherited in an autosomal dominant pattern; one copy of the associated variant is sufficient to confer susceptibility, and each child of an affected individual has a 50% chance of inheriting it. The condition is associated with variation at a specific chromosomal locus on chromosome 1q25.3-q31.1; the precise molecular mechanism contributing to macular deterioration is under investigation in available data.
Diagnosis involves comprehensive ophthalmic evaluation for macular drusen and retinal changes consistent with macular degeneration. Optical coherence tomography and fundus imaging are typically employed in clinical assessment. A family history consistent with autosomal dominant transmission may further support the clinical picture.
No treatments are listed as specifically approved for ARMD1 in this packet. Management focuses on evaluating disease progression and addressing complications as they arise. Supportive care and low-vision rehabilitation may assist individuals with functional vision impairment. Treatment approaches are individualized through ophthalmologic specialist evaluation.
56 trials found
Outcomes vary considerably among individuals. Geographic atrophy, when present, is associated with progressive central vision loss over time. Macular hemorrhage may indicate a more rapidly progressive course. Peripheral vision is generally preserved, and overall trajectory depends on the degree of macular involvement and other individual factors.
Age related macular degeneration 1 is part of an active area of clinical research, with numerous ongoing clinical trials examining drug therapies, medical devices, procedural approaches, and other interventions. Current trial information is available through ClinicalTrials.gov.
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:00 PM UTC
Online Mendelian Inheritance in Man
Common questions about age related macular degeneration 1