Inner retinal thickness in Stargardt disease.

PURPOSE: To analyze the alterations at the level of the inner retina in patients affected by Stargardt disease (STGD1). METHODS: Cross-sectional investigation involving STGD1 patients with genetically confirmed diagnosis, who underwent optical coherence tomography (OCT), optical coherence tomography angiography (OCTA), and microperimetry. RESULTS: Overall, 31 patients (62 eyes) with genetically confirmed STGD1 were included in the study. Mean inner retinal thickness, vessel density of plexa, and retinal sensitivity resulted significantly reduced in STGD patients, compared with healthy controls (p < 0.05), both in the outer and in the inner ETDRS rings. Overall, 43% of eyes revealed an inner retinal thinning, whereas 21% and 35% showed a thicker or within normal range inner retina. CONCLUSIONS: Inner retina is irregularly altered in STGD1, showing variable quantitative alterations as detected on OCT. Inner retinal status might represent a useful biomarker to better characterize STGD1 and to ascertain the effects of new treatment approaches.

Pigmented paravenous chorioretinal atrophy: Updated scenario.

Pigmented paravenous chorioretinal atrophy (PPCRA) is an uncommon form of chorioretinal atrophy characterized by perivenous aggregations of pigment clumps associated with peripapillary and radial zones of retinal pigment epithelial atrophy that are distributed along the retinal veins. Most patients are asymptomatic, and evidence suggest that PPCRA is slowly progressing. Unless macular involvement is present, the majority of patients usually retain a normal visual function. Our ability to diagnose PPCRA has recently improved thanks to multimodal imaging, especially with the advent of ultra-widefield (UWF) imaging. Blood tests and functional and genetic testing can help with the correct differential diagnosis of pseudo-PPCRA or other disorders with similar characteristics. Although the cause of PPCRA is unknown, it is possible that it has a genetic basis. In this review we provide a summary of the multimodal imaging characteristics of PPCRA, and discuss its possible pathogenesis, based on the genes that have been associated with this disease.

Peripheral Retinal Involvement in Extensive Macular Atrophy with Pseudodrusen-Like Deposits.

PURPOSE: To describe the alterations of the peripheral retina in extensive macular atrophy with pseudodrusen-like deposits (EMAP) by means of ultrawidefield fundus photography (UWFFP) and ultrawidefield fundus autofluorescence (UWF-FAF). STUDY DESIGN: Prospective, observational case series. PARTICIPANTS: Twenty-three patients affected by EMAP. METHODS: Each patient underwent best-corrected visual acuity (BCVA) measurement, UWFFP, and UWF-FAF. The area of macular atrophy, as well as the pseudodrusen-like deposits and peripheral degeneration, were assessed using UWF images, at baseline and over the follow-up. MAIN OUTCOME MEASURES: The assessment of the clinical patterns of both pseudodrusen-like deposits and peripheral retinal degeneration. Secondary outcomes included assessing macular atrophy by means of UWFFP and UWF-FAF, and tracking progression over the follow-up. RESULTS: Twenty-three patients (46 eyes) were included, of whom 14 (60%) were female. Mean age was 59.0 ± 5 years. Mean BCVA at baseline was 0.4 ± 0.4, declining at a mean rate of 0.13 ± 0.21 logarithm of the minimum angle of resolution/year. Macular atrophy at baseline was 18.8 ± 14.2 mm2 on UWF-FAF, enlarging at a rate of 0.46 ± 0.28 mm/year, after the square root transformation. Pseudodrusen-like deposits were present in all cases at baseline, and their detection decreased over the follow-up. Three main types of peripheral degeneration were identified: retinal pigment epithelium alterations, pavingstone-like changes, and pigmented chorioretinal atrophy. Peripheral degeneration progressed in 29 eyes (63.0%), at a median rate of 0.7 (interquartile range, 0.4-1.2) sectors/year. CONCLUSIONS: Extensive macular atrophy with pseudodrusen-like deposits is a complex disease involving not only the macula, but also the midperiphery and the periphery of the retina. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Children with autism spectrum disorders and severe visual impairments: Some general principles for intervention according to the perspective of clinical psychology of disability.

In the last decades, an increasing number of researchers addressed the relationship between autism spectrum disorders (ASD) and severe visual impairment (SVI) (like blindness or very low visual acuity) and nowadays autism could be considered one of the most reported coexisting developmental disorders in children with blindness or other severe visual impairment. As ASD and SVI' signs and symptoms affect functioning and quality of life and different domains of functioning of children with this comorbidity, it is very important to support individuals and their families as soon as possible in the cycle of life and to promote specific interventions aimed to promote developmental potential of everyone with both ASD and VI, based on the unique balance between strengths, needs and abilities of everyone. Children and individuals with SVI and ASD and SVI are a very heterogeneous group, both about the areas of social interaction, communication, and behaviour, as well as about visual abilities and about all the other aspects of their neuropsychological and functional profiles that are influenced by their visual impairments itself, their ASD itself and the combination of them. In this paper, we aim to discuss some general principles useful to design and to develop specific interventions and to promote inclusion of children with ASD and SVI.

Dementia and Major Neurocognitive Disorders: Some Lessons Learned One Century after the first Alois Alzheimer's Clinical Notes.

Over 100 years ago, Alois Alzheimer presented the clinical signs and symptoms of what has been later called "Alzheimer Dementia" in a young woman whose name was Augustine Deter [...].

Autism and Visual impairment: A First Approach to a Complex Relationship.

Since the first half of the 20th century there has been an interest in the study of the relationship between autism and autistic-like clinical features and with visual impairments. Autism Spectrum disorders are one of the more worldwide-studied neurodevelopmental disorder with an increasing prevalence in the last ten years. Visual impairment is a condition which derives from several causes (genetic, constitutional, injuries, nutritional and environmental ones). Again, it is a kind of spectrum and an overarching category, because visual impairments range from refractive errors (myopia, hyperopia, astigmatism), to amblyopia, strabismus, and to partial and total blindness. Since the first study of Keeler (1956) which described autistic-like patterns in five preschool children who were totally blind due to retinopathy of prematurity (ROP), a growing number of researchers addressed the relationship between autism and visual impairment. In this paper we focused on it, aiming to discuss on some lessons learned in this field and to discuss some open questions since the first research in this field.

Ageing, Disability, and Spinal Cord Injury: Some Issues of Analysis.

Spinal cord injury is a disabling disorder, worldwide spread, with important consequences on functioning and health conditions and impacts on physical, psychological, and social well-being. The consequences are related to the lesion itself and to other complications related to the lesion. In the last decades, there have been an increasing of the mean ages of onset and also an increase in life expectancy after the lesion. So, differently from the past, people with spinal cord injury can age after the lesion. Taking into account the need to share data and information about specific disabling conditions and their relationship with ageing, this paper aims to discuss some issues from recent literature on the relationship between aging and disability in the spinal cord injury, according to a narrative review approach. A narrative review of the literature on ageing and spinal cord injury was undertaken. Search was based on the following electronic databases: PubMed/Medline and Ovid/PsychINFO. A combination of the following keywords was used: (1) "ageing" or "aging" and (2) "spinal cord injury" or "spinal cord lesion" and (3) disability. Data on consequences of the lesion in the life of aging people, secondary health conditions, life expectancy, participation, and quality of life are discussed. Then, a brief discussion of clinical issues and the role of interventions aimed to promote wellbeing, health, quality of life, and participation of people with spinal cord injury is proposed.