[show abstract][hide abstract] ABSTRACT: Best disease is a slowly progressive macular dystrophy that typically has an onset in early childhood. Multiple lines of evidence suggest that dietary docosahexaenoic acid (DHA) protects against the development of macular degeneration. Our trial tested the effect of an oral supplement of DHA on visual function in patients with Best disease.
Double-masked, randomized, placebo-controlled, crossover clinical trial.
Eight patients with Best disease.
Patients were given either an oral supplement of DHA (20 mg/kg daily) or placebo. Primary outcome measures were the multifocal electroretinogram (mfERG) and electro-oculogram (EOG). Plasma DHA was tracked along with visual acuity (Early Treatment Diabetic Retinopathy Study chart), VF-14 scores, and Humphrey visual fields.
All 8 patients had increased plasma DHA levels (2-3 fold) during periods of DHA supplementation compared with periods without supplementation. Differences in visual acuity, VF-14 scores, and EOG Arden ratios during periods with and without DHA supplementation were all statistically insignificant. A positive correlation was found between the plasma concentration of DHA and mfERG amplitudes, but amplitude changes during the treatment periods were not significant. A carryover effect of DHA supplementation was a confounding error.
Our pilot trial of DHA supplementation in 8 patients with Best disease did not demonstrate an improvement in macular function. An expanded trial would be needed to examine the full effects of DHA supplementation on visual function in Best disease.
Canadian Journal of Ophthalmology 10/2010; 45(5):514-9. · 1.15 Impact Factor
[show abstract][hide abstract] ABSTRACT: Age-related macular degeneration (AMD) was until recently viewed as a part of the normal aging process; however, we are increasingly aware that genetic factors play a much greater role than previously suspected. This review will provide an up-to-date snapshot of the genetics of AMD to help guide our thoughts about its causes and the risk for family members.
Epidemiological research and basic bench research have identified pathways of oxidative stress, lipid metabolism and inflammation as playing causative roles in the pathogenesis of AMD. Emerging research is focusing on the biology of the retinal pigment epithelium as secreting pro and anti-inflammatory mediators in the eye. Antivascular endothelial growth factor therapy has dramatically improved the prognosis for neovascular or wet AMD patients. Nutritional supplementation with antioxidants and omega-3 fatty acids has provided treatment options for patients with atrophic or dry AMD. We should expect that some of the response to therapy might be genetically determined.
First-degree relatives of patients with AMD tend to have a higher risk of AMD. Recognizing an inherent genetic risk of AMD in these patients will improve their management and potentially help prevent blindness.
Current opinion in ophthalmology 08/2009; 20(5):369-76. · 2.49 Impact Factor
[show abstract][hide abstract] ABSTRACT: Pseudoxanthoma elasticum (PXE) is a systemic disease with characteristic findings on fundus examination. The fundus findings may be difficult to detect with ophthalmoscopy. A case report is described as follows. A PXE patient had subtle retinal findings on fundoscopy that were more prominently seen using a combination of both fundus autofluorescence (FAF) imaging and indocyanine green (ICG) angiography. The fundus features visualized using each of these two modalities appeared different from each other. FAF imaging and ICG angiography may be able to more prominently detect pathology at the level of the retinal pigment epithelium and Bruch's membrane, respectively. The use of these imaging modalities together may be complementary and useful in the evaluation of patients with PXE.
[show abstract][hide abstract] ABSTRACT: An 11-month-old infant girl presented with right-sided features of aplasia cutis congenita of the scalp, unilateral epibulbar dermoids, eccentric pupil, coloboma of the right upper eyelid, and depigmentation of the fundus surrounding the right optic nerve. These findings were similar to the oculoectodermal syndrome reported by other clinicians and researchers.
[show abstract][hide abstract] ABSTRACT: To understand which clinical presentations suggest a diagnosis of choroideremia (CHM).
Retrospective chart review. Included were patients for whom a clinical diagnosis of CHM was suggested, but either protein analysis or direct sequencing of the CHM gene could not confirm the diagnosis. Clinical presentation, family history and fundus photographs were reviewed.
We analyzed protein and DNA samples from members of more than 100 families in which at least 1 member had a clinical diagnosis of CHM. For 26 of these families, the clinical diagnosis of CHM could not be confirmed by laboratory analysis. Relevant clinical information was requested from the referring ophthalmologists so that alternative diagnoses could be considered. Sufficient information was provided for 13 of the 26 families. Four patients were reclassified as having retinitis pigmentosa (RP) from the clinical phenotype; only two clearly had X-linked inheritance. One patient had a syndrome including macular dystrophy, hearing loss, developmental delay and cerebral palsy. One patient was reclassified as having congenital stationary night blindness on the basis of an electronegative electroretinogram and a normal fundus. One patient had hearing loss suggesting Usher syndrome. One patient had signs consistent with cone-rod dystrophy (CRD). Five patients could not be reclassified on the basis of the clinical presentation.
RP, Usher syndrome and CRD are clinical phenotypes that may overlap with CHM. Clinical features that suggest CHM include severe chorioretinal atrophy with preservation of the macula, X-linked inheritance and retinal changes in a related female.
Canadian Journal of Ophthalmology 09/2003; 38(5):364-72; quiz 372. · 1.15 Impact Factor
[show abstract][hide abstract] ABSTRACT: A 28-year old woman had an ocular syndrome consisting of congenital lid and punctal anomalies, and corneal and chorioretinal dystrophy without facial dysmorphism. These combined malformations of the ocular adnexae and both anterior and posterior ocular segments have not been previously described and appear to represent a novel syndrome. Direct sequencing of PAX6 and the DNA-binding domain of FOXC1 failed to detect a mutation.