Overview
Pattern dystrophies are a group of autosomal dominant macular disorders characterized by distinctive patterns of yellow-orange pigment deposits at the level of the RPE, typically presenting in mid-adulthood. The most common forms include butterfly-shaped pattern dystrophy, reticular dystrophy (Sjögren), and adult-onset vitelliform dystrophy. Most are caused by PRPH2 (peripherin-2) mutations and follow a relatively benign course, though CNV and geographic atrophy can cause significant vision loss.
Genetics
PRPH2 mutations account for the majority of pattern dystrophies. Multiple allelic conditions including RP and CRD. Inheritance is autosomal dominant.
| Gene | Locus | Inheritance | Notes |
|---|---|---|---|
| PRPH2 | 6p21.1 | AD | Peripherin-2 (RDS); most common cause; allelic with RP and CRD |
| BEST1 | 11q12.3 | AD | Bestrophin-1; adult-onset vitelliform dystrophy (AVMD) |
| IMPG1 | 6q14.2 | AD | Interphotoreceptor matrix proteoglycan 1; vitelliform dystrophy |
| IMPG2 | 3q12.3 | AD/AR | Interphotoreceptor matrix proteoglycan 2 |
Clinical Presentation
Mid-adulthood (4th–5th decade)
- Mildly reduced visual acuity
- Metamorphopsia (visual distortion)
- Characteristic pigment pattern on fundus
Progressive
- Slow progression over decades
- Geographic atrophy in some
- CNV in a minority
Diagnosis
- Fundus autofluorescence (FAF): Characteristic pattern — butterfly, reticular, or vitelliform
- OCT: Subretinal deposits, RPE changes
- ERG: Usually normal or mildly reduced
- Genetic testing: PRPH2, BEST1, IMPG1/2 sequencing
Current Research & Treatment
No approved treatments. Anti-VEGF for CNV. PRPH2 gene therapy is in preclinical development. The overlap with Best disease and RP creates shared research pathways.
Active Clinical Trials
The following active clinical trials are investigating treatments for Pattern Dystrophy. Trial status and enrollment may change; always verify directly on ClinicalTrials.gov.