Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient

Purpose: To describe the clinical and genetic characteristics (novel mutation in BEST1 gene) of a Spanish patient with autosomal recessive bestrophinopathy (ARB). Methods: The detailed ophthalmological examination included best corrected visual acuity (BCVA), color and autofluorescence photography, fluorescein angiography, optical coherence tomography, and electrophysiology tests. A next-generation sequencing (NGS) strategy was applied to the index patient, and then sequenced in an Illumina NextSeq500 system. Results: A 55-year-old male presented with a BCVA of 20/25 in the right eye and 20/20 in the left eye. Fundoscopy revealed perifoveal yellow flecked-like lesions. Fluorescein angiography and fundus autofluorescence results were consistent with pattern dystrophy. A homozygous frameshift mutation in BEST1 (c.341_342del; p.(Leu114Glnfs*57)) was identified as the cause of the disease. Conclusion: ARB is a genetic disease that leads to irreversible visual loss. In this report we found a novel mutation responsible for this disease.

Integrating family therapy into exposure-based CBT for a Spanish patient with obsessive scrupulosity

Obsessive-compulsive symptom profiles vary widely among individuals and may be affected by cultural backgrounds. In the case of scrupulosity, moral and religious principles are the target of obsessive-compulsive symptoms. Cognitive biases and beliefs have special relevance in the origin and maintenance of obsessive scrupulosity. In addition, rigid and exaggerated beliefs about morality are held by these patients. Moral and religious principles are mainly transmitted by family. These influences may be more prominent in cultures, such as the Spanish culture, where family and religion are important values for individuals. The authors describe the treatment of a Spanish patient with obsessive scrupulosity. Family therapy strategies were integrated into exposure-based CBT in order to facilitate the modification of beliefs, behaviors, and pathological family relationships. The patient exhibited clinically significant improvements in OCD symptoms. Findings from this case show the need for individualized interventions that take into consideration cultural, social, and family factors.