Branch retinal vein occlusion followed by central retinal artery occlusion in Churg-Strauss syndrome: unusual ocular manifestations in allergic granulomatous angiitis.

PURPOSE: To describe a rare branch retinal vein occlusion (BRVO) followed by central retinal artery occlusion (CRAO) in a patient with Churg-Strauss syndrome (CSS). METHODS: A 55-year-old man with a not yet diagnosed CSS developed a BRVO in the left eye and 1 year later a CRAO with painless and acute vision loss in the same eye. Medical history included bronchial asthma, history of allergy, eosinophilic pneumonia, bilateral pleuric and pericardial effusion, hypereosinophilia, and purpuric vasculitis. RESULTS: CRAO in the left eye was diagnosed by retinal whitening and a cherry red spot with coexisting old BRVO evidenced by previous laser photocoagulation. Corticosteroids and cyclophosphamide therapy improved his general condition but no visual recovery occurred. CONCLUSIONS: BRVO and CRAO can occur in the same eye in CSS. In the presence of systemic signs or symptoms, it is important to rule out systemic vasculitis in order to start appropriate immune-modulatory treatment thereby avoiding unnecessary mortality.

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutation spectrum comprises 28 different mutations including 12 nonsense mutations, eight insertions and/or deletions, five putative splice site mutations, and three missense mutations. Thus, the majority of mutations in the CNGB3 gene result in significantly altered and/or truncated polypeptides. Several mutations were found recurrently, in particular a 1 bp deletion, c.1148delC, which accounts for over 70% of all CNGB3 mutant alleles. In conclusion, mutations in the CNGB3 gene are responsible for approximately 50% of all patients with achromatopsia. This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent.

Transient reduction of the ocular perfusion pressure and the oscillatory potentials of the ERG.

PURPOSE: To evaluate the changes of the Oscillatory Potentials (OPs) of Electroretinogram (ERG) caused by short-term hypertension in human subjects, and their relationship with ocular perfusion pressure (OPP). METHODS: Suction cup technique in 12 normal volunteers with OPs simultaneously recording. RESULTS: Scotopic and photopic OPs were altered during OPP drop. Scotopic OPs showed more sensitiveness, with higher reduction (from 21% to 47%), when compared to the basal value, than in photopic recordings (from 14% to 34%). In both conditions, the relationship between OPP and OPs presented a steady amplitude before the trough after the +30 step, and rapid recovery after OPP normalisation. ANOVA and correlation analysis confirmed the data. CONCLUSION: The ERG OPs seemed to reflect the OPP modification. The features of OPs amplitudes suggest involvement of the retinal autoregulation mechanism and support development for further clinical studies.

Electroretinographic oscillatory potentials in insulin-dependent diabetes patients: A long-term follow-up.

PURPOSE: The aim of this research was to study the relevance of long-term follow-up of electroretinographic oscillatory potentials (OPs) in predicting the onset of minimal non-proliferative diabetic retinopathy in insulin-dependent diabetes patients. METHODS: A total of 80 insulin-dependent diabetics, with normal fundi and normal OPs at first examination, were followed prospectively for 10 years. Oscillatory potentials were measured and fundus examinations performed once or twice per year. RESULTS: During follow-up, 35% of patients developed diabetic retinopathy after a mean disease duration of 12 +/- 2 years. A decrease in OP amplitudes was seen in 46% of this group, but reductions were also seen in the 25% of patients whose fundi remained normal. Statistical analysis of best-fit survival curves shows a significant difference (p < 0.001) in the point of Kaplan-Meiers' curve maximal linearity (TmaxS). CONCLUSIONS: It appears that eyes with reduced OP amplitude have a greater probability of developing diabetic retinopathy. Subnormal OP amplitudes are not proof of real concomitant visible vascular damage, but may reflect a predisposition to functional neurosensorial disorder.