BACKGROUNDLarge drusen is a known risk factor for the development of late complications of age-related macular degeneration (AMD) and drusen reduction has been found by our previous study. To prospectively evaluate the efficacy and safety of prophylactic laser treatment in Chinese patients with bilateral soft drusen, we examined the structure and function of the macula 8 years after treatment.

METHODSTen patients with more than 10 soft drusen (> 125 mm) and best corrected visual acuity ≥ 20/25 in each eye participated in the study. One eye, with relatively more drusen, was exposed to an argon laser (514 nm) to achieve a barely visible retinal lesion. The contralateral eye was used as a control. Fluorescein angiography, Amsler tests, Fourier-domain optical coherence tomography and visual evoked potential tests were carried out 8 years later.

RESULTSNo choroidal neovascularization was seen in the laser-treated eyes or control eyes. There were no significant differences in visual acuity or P100 latency and amplitude between the laser treated eyes and contralateral eyes (t = 1.685, 1.184; P > 0.05). The thickness of the retinal pigment epithelium of the treated eyes was less than that of the contralateral eyes (t = -4.540; P < 0.05). The full retinal thickness in treated eyes was slightly, but insignificantly, reduced relative to contralateral eyes (t = -1.746; P > 0.05).

CONCLUSIONSThe treatment was associated with a reduction in retinal pigment epithelium thickness elevation compared with the contralateral eyes. Macular function was not impaired.

Aged ; Aged, 80 and over ; Female ; Humans ; Laser Coagulation ; methods ; Male ; Middle Aged ; Retinal Drusen ; surgery ; Wet Macular Degeneration ; surgery

We report the clinical course of photodynamic therapy (PDT) in a patient with drusenoid pigment epithelium detachment (PED). A patient with drusenoid PED underwent PDT follow-up was carried out at one week, one month, three months, six months and one year after treatment. Fundus exam, optical coherence tomography (OCT) and fluorescein angiography were performed. After the PDT, drusen and PED were gradually diminished over one year. However, pure serous PED eventually developed at the same location of the drusenoid PED. The results of the PDT, on drusenoid PED, were initially effective, but not completely successful. Therefore, PDT may be considered as an alternative treatment option for drusenoid PED.
Aged ; Fluorescein Angiography ; Humans ; Male ; *Photochemotherapy ; Photosensitizing Agents/*therapeutic use ; Pigment Epithelium of Eye/*drug effects/pathology ; Porphyrins/*therapeutic use ; Retinal Detachment/diagnosis/*drug therapy ; Retinal Drusen/diagnosis/*drug therapy ; Tomography, Optical Coherence

OBJECTIVETo analyze clinical features and mutations of EFEMP1 gene in a Chinese pedigree with familial dominant drusen.

METHODSClinical features of the pedigree were studied with fundus photography, fundus fluorescein angiography and optical coherence tomography. Molecular genetic analysis was performed on the patients and unaffected individuals from the family. All coding exons of the EFEMP1 gene were amplified by polymerase chain reaction (PCR) and sequenced. The results were compared with wild-type sequences from NCBI. The proband who had suffered from choroidal neovascularization and preretinal hemorrhage received an intravitreal injection of an anti-vascular endothelial growth factor (VEGF) preparation.

RESULTSA heterozygous mutation C>T (R345W) was identified in exon 10 of the EFEMP1 gene in two affected individuals from the family. The same mutation was not detected in unaffected family members and 100 healthy individuals. Postoperative follow-up of the patient receiving intravitreal injection of anti-VEGF drug showed that visual acuity was improved and fundus appeared to be stable.

CONCLUSIONThe R345W mutation in EFEMP1 is responsible for the dominant drusen in this family. Intravitreal injection of anti-VEGF drug is a promising treatment for the improvement in vision.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Exons ; Extracellular Matrix Proteins ; genetics ; Female ; Genes, Dominant ; Humans ; Male ; Molecular Sequence Data ; Mutation, Missense ; Pedigree ; Retinal Drusen ; genetics ; metabolism ; Vascular Endothelial Growth Factor A ; metabolism ; Young Adult