Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy).
OBJECTIVE
To investigate the nature of symptomatic visual disturbance in patients with EFEMP1 retinal dystrophy in the absence of geographic atrophy or choroidal neovascularization.


METHODS
Patients presenting to a tertiary referral centre underwent clinical evaluation, fluorescein angiography, colour contrast sensitivity, focal, pattern, and standard electroretinography, electrooculography, scotopic threshold perimetry and dark adaptometry.


RESULTS
Clinical features included reduced central vision, difficulty passing from light to dark, and diffuse submacular and peripapillary deposits, which were hyperfluorescent by fluorescein angiography. Colour contrast thresholds were abnormal in all six patients studied and both pattern and focal electroretinograms were abnormal in five of six patients. The scotopic and mixed rod-cone single flash ERG was normal but two patients demonstrated reduced oscillatory potentials and one had borderline delayed 30 Hz responses. Scotopic thresholds were elevated and rod-mediated dark adaptation kinetics were markedly prolonged in all six patients when measured over the central visible confluent deposits.


CONCLUSIONS
In patients with EFEMP1 retinal dystrophy with confluent macular deposits, scotopic sensitivity is reduced and dark adaptation kinetics are prolonged over the macular deposits but are normal elsewhere. These results emphasize the localised nature of functional deficits in some patients with EFEMP1 retinal dystrophy and correlate well with the patient's visual symptoms. Symptomatic visual dysfunction may precede the development of clinically evident geographic atrophy or choroidal neovascularization in this disorder.
Haimovici
R
R
Institute of Ophthalmology, London, UK. Robert.Haimovici@bmc.org
Wroblewski
J
J
Piguet
B
B
Fitzke
F W
FW
Holder
G E
GE
Arden
G B
GB
Bird
A C
AC
D003117:Color Vision Defects / Q000209:etiology; D015350:Contrast Sensitivity; D003623:Dark Adaptation; D004596:Electroretinography; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008268:Macular Degeneration / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D008875:Middle Aged; D009154:Mutation; D015593:Retinal Drusen / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D014786:Vision Disorders / Q000209:etiology
C119630:EFEMP1 protein, human; D016326:Extracellular Matrix Proteins