Optical coherence tomography angiography in Purtscher-like retinopathy associated with dermatomyositis: a case report.

PURPOSE: To describe a multimodal imaging diagnosis of retinopathy in dermatomyositis. CASE PRESENTATION: A 21-year-old white woman with a history of fatigue and a cutaneous rash complained of visual impairment in her left eye. A funduscopic examination showed multiple confluent cotton-wool spots in both eyes. Swept source-optical coherence tomography presented macular edema in both eyes; optical coherence tomography angiography revealed superficial and deep capillary occlusion in all areas affected by cotton-wool spots; and fluorescein angiography showed vascular walls enhancement, veins dilatation, and capillary leakage. After large doses of intravenously administered glucocorticoid therapy, followed by a cyclophosphamide regimen, best corrected visual acuity returned to 20/20 in both eyes. CONCLUSIONS: This case report presents optical coherence tomography angiography clinical findings in a rare case of dermatomyositis-associated retinopathy, remarking the importance of a multi-imaging approach for a correct diagnosis and treatment of eye injuries, in order to avoid serious complications and permanent sequelae.

Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.

Mutations in more than 60 different genes have been associated with non-syndromic and syndromic retinitis pigmentosa (RP), a heterogeneous group of inherited retinal dystrophies. To increase the understanding of the molecular epidemiology of the disease in Italy, we analyzed 56 patients with syndromic and non-syndromic forms of RP attending the Retinitis Pigmentosa Center of San Paolo Hospital (Milan, Italy). Patients underwent detailed clinical examination. Genomic DNA isolated from peripheral blood samples was screened for mutations in different genes according to RP form by direct sequencing analysis. The impact of novel missense mutations on protein functions was predicted by in silico analysis and protein sequence alignment. Cosegregation analysis was performed between available family members. Forty-one of the 56 probands analyzed had non-syndromic and 15 had syndromic RP forms. Putative disease-causing mutations were identified in 19 of 56 unrelated RP probands. Mutation screening identified a total of 22 different heterozygous variants. Notably, 12 of these putative pathogenic mutations have not been previously reported. New variants were found to be located on the USH2A, RPGR, EYS, and RHO genes. All 3 new variants detected in X-linked RP probands were confirmed in other affected family members. We found a positivity rate of 24.4% and 60% for probands with non-syndromic and syndromic RP, respectively. This is the first report of RPGR X-linked RP proband-ORF15 mutations in Italian patients with X-linked (XL)-RP. In addition, this is the first report of data regarding the association between EYS mutations and non-syndromic RP forms in the Italian population.

A transdisciplinary conceptual framework for the early identification of risks for communication disorders in young children.

The early identification of infants with communication disorders or at risk for communication delays is still one of the biggest challenges of early communication intervention (ECI) and threatens to compromise its efficacy. Current approaches to the early identification of young children at risk for communication disorders involve strategies aimed at the identification of general developmental delays and may not be sufficiently sensitive and specific enough to detect the early stages of communication disorders. The risks for mortality and health are often identified early in life, but the concomitant risks for communication disorders in the same young children are frequently not identified at that opportune time. The current study involved a descriptive survey, describing the identification of communication disorders in 153 subjects, whose data was stored in and retrieved from a customized ECI database system. The findings revealed that the subjects were assessed at the average age of 18 months, but that identifications of risk conditions occurred prenatally, at birth, after the perinatal period and later in life. The time of identification related to the different communication disorders identified in the subjects and caregivers played a major role in detecting the first signs of communication disorders in their children. In order to provide a guideline for clinical practice, a transdisciplinary conceptual framework towards a coordinated effort for the early identification of risks for communication disorders in young children is proposed.