MH ThaungTime for more #EyePath! Here's a (slightly) less common presentation of intraocular melanoma
Here's another #EyePath classic - a collar-stud melanoma
KiKo XP | EyePath, mushrooms and cottage loaves, oh my!
Here are images of 2 globes with uveal (choroidal) melanoma demonstrating a distinctive collar-stud appearance (also described as "mushroom" or "cottage loaf" for reasons I'm sure you can appreciate).In the overview, we see a large tumour in the posterior choroid, adjacent to the optic nerve.
Here's a classic corneal dystrophy as my latest #EyePath case
Here's a conjunctival tumour that's uncommon in #EyePath, but you may see it more often elsewhere.
For any #EyePath peeps, here's my newest case on KiKo. It's a very common specimen!
Here's another #EyePath case. This time, it's an orbital biopsy with a classic appearance - the kind of thing you might see in an exam π
I'm looking for a home for my #EyePath cases. Enjoy this cornea I posted on KiKoXP!
https://kikoxp.com/posts/53340
(Note: I'm new to this - hope you can see it ok...)
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!
https://www.nature.com/articles/s41431-024-01687-8
#ophthalmology #cornea #genetics #OpenAccess #MedMastodon #EyePath
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant - European Journal of Human Genetics
Corneal 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 (MAFβ<β0.001) were identified in established corneal dystrophy genes. However, a novel heterozygous missense variant in exon 4 of SPARCL1, NM_004684: c.334Gβ>βA; 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.
We have a little #EyePath case report out today: Recurrence of a non-AIDS-related #eyelid Kaposi sarcoma.
FREE copies available from https://authors.elsevier.com/c/1j1dqfHwmDnG6 until mid-June.
If you're interested, pick it up while you can.
Feel free to share with any colleagues who might be interested π
#Ophthalmology #Histopathology #MedMastodon #DermPath @pathology
Interested in eye pathology? I'm hosting the British Association for Ophthalmic Pathology meeting in London UK on 21-22 March. Challenging cases, peer discussion and a special joint session with Bowman Club, the corneal specialist society. Attended by pathologists, ophthalmologists and scientists.
Further details at: https://www.baop.org.uk/
Boosts appreciated! #EyePath #MedMastodon @pathology