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#ophthalmology

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In a groundbreaking clinical trial by Penn Medicine, patients with a rare genetic condition that severely limits vision saw up to 10,000-fold improvements after receiving gene therapy. The treatment restored significant sight, even allowing some patients to navigate in dim lighting, a life-changing outcome for many.

@goodnews

#GeneTherapy #VisionRestoration #MedicalBreakthrough #Ophthalmology #GoodNews

pennmedicine.org/news/news-rel

How does being outdoors prevent the development of Myopia? (11 June 2024)

youtu.be/FHXs_7Lv_Gc?si=q7caV1

- afternoon time outdoors more important than morning
- light intensity
- spectral quality (red)
- dopamine, local effect on eye
- atropine & dopamine do not affect normal eye growth; only have effects once myopic changes are initiated

~

Why aren't there more epidemiological studies that consider the effect time spent outdoors on health?

#light #lighting #myopia #vision #eyes #outdoors #health
#CircadianRhythm #optometry #ophthalmology

Highlight from our electronic #collection:

➡️ Vision Impairment. Science, art and lived experience

🔗 directory.doabooks.org/handle/

Losing sight profoundly impacts all aspects of life. This book explores the experiences of people with vision loss, covering education, employment, and psychological effects. It also discusses causes, #treatments, and vision restoration, offering a comprehensive overview of living with sight loss.

Excited to have a new article out! This is a novel corneal dystrophy with a story going back at least 15 years

Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant by Braddock et al. Well done, team!

nature.com/articles/s41431-024

NatureAutosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant - European Journal of Human GeneticsCorneal dystrophies are phenotypically and genetically heterogeneous, often resulting in visual impairment caused by corneal opacification. We investigated the genetic cause of an autosomal dominant corneal stromal dystrophy in a pedigree with eight affected individuals in three generations. Affected individuals had diffuse central stromal opacity, with reduced visual acuity in older family members. Histopathology of affected cornea tissue removed during surgery revealed mild stromal textural alterations with alcianophilic deposits. Whole genome sequence data were generated for four affected individuals. No rare variants (MAF < 0.001) were identified in established corneal dystrophy genes. However, a novel heterozygous missense variant in exon 4 of SPARCL1, NM_004684: c.334G > A; p.(Glu112Lys), which is predicted to be damaging, segregated with disease. SPARC-like protein 1 (SPARCL1) is a secreted matricellular protein involved in cell migration, cell adhesion, tissue repair, and remodelling. Interestingly, SPARCL1 has been shown to regulate decorin. Heterozygous variants in DCN, encoding decorin, cause autosomal dominant congenital stromal corneal dystrophy, suggesting a common pathogenic pathway. Therefore, we performed immunohistochemistry to compare SPARCL1 and decorin localisation in corneal tissue from an affected family member and an unaffected control. Strikingly, the level of decorin was significantly decreased in the corneal stroma of the affected tissue, and SPARCL1 appeared to be retained in the epithelium. In summary, we describe a novel autosomal dominant corneal stromal dystrophy associated with a missense variant in SPARCL1, extending the phenotypic and genetic heterogeneity of inherited corneal disease.
Replied to Lisa

@Likewise

@bookstodon

just trialling a new prescription of monthly multi focals after working with a contact lens specialist following a recent eye test. (Previously, I used dailies, from an older prescription.) So far, so good, though, oddly, better in the afternoon and evening. It was so good to find someone who specializes in contacts and is willing to work through issues with older eyes.

In December's #EyePath session, we'll look at the #cornea. Here's one of the cases we'll discuss, where the patient had a treatment procedure before finally needing a corneal graft.

Registration links:
Tuesday 12 December 1900h GMT/UTC
us06web.zoom.us/meeting/regist

Wednesday 13 December 0800h CMT/UTC
us06web.zoom.us/meeting/regist

#MedMastodon #MedEd #Ophthalmology @pathology