atrophic macular disease

Macular Degeneration, Early-Onset

Clinical Characteristics
Ocular Features: 

Onset of distorted vision has been reported as early as the fourth decade of life with clinical evidence of pigmentary changes in the macula noted in the fifth decade.  Large areas of central RPE atrophy can be seen.  In the single family reported (a father and his 4 sons), there is considerable clinical heterogeneity in the RPE changes in the fundus.  Acuity is variable depending upon the stage of disease.

Systemic Features: 

No systemic disease has been reported.

Genetics

Heterozygous mutations in the FBN2 gene, encoding Fibrillin 2, a component protein of the extracellular matrix that segregates with this presumably autosomal dominant macular disease have been reported. 

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

No treatment beyond anti-VEGF therapy is available.  Low vision devices may be helpful.

References
Article Title: 

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.

Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, Lotery A, Klein BE, Truitt BJ, Li B, Schaumberg DA, Morgan DJ, Morrison MA, Souied E, Tsironi EE, Grassmann F, Fishman GA, Silvestri G, Scholl HP, Kim IK, Ramke J, Tuo J, Merriam JE, Merriam JC, Park KH, Olson LM, Farrer LA, Johnson MP, Peachey NS, Lathrop M, Baron RV, Igo RP Jr, Klein R, Hagstrom SA, Kamatani Y, Martin TM, Jiang Y, Conley Y, Sahel JA, Zack DJ, Chan CC, Pericak-Vance MA, Jacobson SG, Gorin MB, Klein ML, Allikmets R, Iyengar SK, Weber BH, Haines JL, Leveillard T, Deangelis MM, Stambolian D, Weeks DE, Bhattacharya SS, Chew EY, Heckenlively JR, Abecasis GR, Swaroop A. Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. Hum Mol Genet. 2014 Nov 1;23(21):5827-37.

PubMed ID: 
24899048
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