Visual evoked potentials in insulin-dependent diabetics

The latency of pattern-reversal VEPs was studied in type I insulin-dependent diabetics without retinal and extraocular involvement. One hundred eyes of 50 diabetics (mean age 19.8 +/- 7.2 years) formed the study group; the duration of the disease ranged between 1 month and 15 years. The latencies of VEPs were progressively delayed in relation to the duration of the disease, becoming more and more evident and stabilizing after about 6 years from the onset of diabetes. The VEP alterations probably indicate alteration of membrane balance or demyelinization.

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 t…

Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families

Retinitis pigmentosa is the most common form of retinal degeneration and is heterogeneous both clinically and genetically. The autosomal dominant forms ( ADRP) can be caused by mutations in 12 different genes. This report describes the first simultaneous mutation analysis of all the known ADRP genes in the same population, represented by 43 Italian families. This analysis allowed the identification of causative mutations in 12 of the families (28% of the total). Seven different mutations were identified, two of which are novel (458delC and 6901C --> T (P2301S), in the CRX and PRPF8 genes, respectively). Several novel polymorphisms leading to amino acid changes in the FSCN2, NRL, IMPDH1, and…

Computer simulation of the a-wave of the human ERG. Medicon and Health telematics

Molecular genetics of autosomal dominant retinitis pigmentosa: A multicentric study

Computer simulation of the a-wave of the human ERG

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

Contains fulltext : 47591.pdf (Publisher’s version ) (Closed access) 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 mutatio…

CGNB3 m utations account for 50% of all cases with autosomal recessive achromatopsia

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

Abstract 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 normalisat…