Retinal disorders

Gene: FBN2

Red List (low evidence)

Comment on list classification: As there is only 1 pedigree reported in literature where a het FBN2 variant segregated with macular degeneration, this gene can only be rated Red on Retinal disorders.

Created: 6 Aug 2026, 4:09 p.m. | Last Modified: 6 Aug 2026, 4:09 p.m.

Panel Version: 9.14

PMID: 24899048 Ratnapriya et al., 2014
Summary copied from OMIM: "Reported a family in which a father and 4 sons had early-onset macular dystrophy. Clinical features varied among the 5 affected individuals. The father was diagnosed with macular degeneration at 69 years of age, and examination at age 75 showed large areas of pigment epithelial atrophy in the macula of both eyes. The eldest son reported a history of distorted vision in his left eye from the age of 46 years; examination at age 52 confirmed pigmentary changes of the left macula. Another son had a history of choroidal neovascularization in the right eye at age 35. Two more sons exhibited clinical findings consistent with atrophic macular disease in their forties. There was no history of skeletal, joint, or muscle abnormalities in these patients."
A heterozygous FBN2 c.3430G>A, p.Glu1144Lys variant segregated with disease and was posed to be causal. MAF in gnomAD v4 = 0.0001761. Conflicting in ClinVar (VUS/B).
Sources: Literature

Created: 6 Aug 2026, 4:08 p.m. | Last Modified: 6 Aug 2026, 4:08 p.m.

Panel Version: 9.14

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Macular degeneration, early-onset, OMIM:616118; macular degeneration, early-onset, MONDO:0014501

Publications

• 24899048