https://serval.unil.ch/resource/serval:BIB_3A01220E0FF1.P001/REF.pdf

Central serous chorioretinopathy: Recent findings and new physiopathology hypothesis.

Congenital Cataracts and their Molecular Genetics

Cataract, which can be defined as any opacity of the crystalline lens, results when the refractiveindexofthelensvariessignificantlyoverdistancesapproximatingthewavelength of the transmitted light. 1 This variation in the refractive index can result from changes in lens cell structure, changes in lens protein constituents, or both. 2 Cataracts are generally associated with breakdown of the lens microarchitecture. Vacuole formation can cause large fluctuations in optical density, resulting in light scattering. Light scattering and opacity also can occur if there are significant concentrations of high-molecular-weight protein aggregates,roughly0.1nmormoreinsize.Theshort-range,orderedpackingofthecrystallins,which make up more than 90% of soluble lens proteins, is important for the maintenance of lens crystallins in a homogeneous phase.

https://jamanetwork.com/journals/jamaophthalmology/articlepdf/817183/ESA60007.pdf

Genetic origins of cataract.

Scalability and severity of keratoconus in children.

Living organisms are endowed with the capability to tackle various forms of cellular stress due to the presence of molecular chaperone machinery complexes that are ubiquitous throughout the cell. During conditions of proteotoxic stress, the transcription factor heat shock factor 1 (HSF1) mediates the elevation of heat shock proteins, which are crucial components of the chaperone complex machinery and function to ameliorate protein misfolding and aggregation and restore protein homeostasis. In addition, HSF1 orchestrates a versatile transcriptional programme that includes genes involved in repair and clearance of damaged macromolecules and maintenance of cell structure and metabolism, and provides protection against a broad range of cellular stress mediators, beyond heat shock. Here, we discuss the structure and function of the mammalian HSF1 and its regulation by post-translational modifications (phosphorylation, sumoylation and acetylation), proteasomal degradation, and small-molecule activators and inhibitors.

/pdf/regulation-of-the-mammalian-heat-shock-factor-1-2lmgercgoz.pdf

Regulation of the mammalian heat shock factor 1.

PURPOSE To map the locus and identify the gene causing autosomal recessive congenital cataracts in a large consanguineous Tunisian family. METHODS DNA was extracted from blood samples from a large Tunisian family with an autosomal recessive, congenital, total white cataract. A genome-wide scan was performed with microsatellite markers. All exons and the splice sites of the HSF4 gene were sequenced in all members of the Tunisian family and in control individuals. RT-PCR was used to detect different transcripts of the HSF4 gene in the human lens. The transcripts were cloned in a TA cloning vector and sequenced. RESULTS Two-point linkage analyses showed linkage to markers on 16q22 with a maximum lod score of 17.78 at theta = 0.01 with D16S3043. Haplotype analysis refined the critical region to a 1.8-cM (4.8-Mb) interval, flanked by D16S3031 and D16S3095. This region contains HSF4, some mutations of which cause the autosomal dominant Marner cataract. Sequencing of HSF4 showed a homozygous mutation in the 5' splice site of intron 12 (c.1327+4A-->G), which causes the skipping of exon 12. A more detailed study of the transcripts resulting from alternative splicing of the HSF4 gene in the lens is also reported, showing the major transcript HSF4b. CONCLUSIONS This is the first report describing association of an autosomal recessive cataract with the HSF4 locus on 16q21-q22.1 and the first description of HSF4 splice variants in the lens showing that HSF4b is the major transcript.

A Homozygous Splice Mutation in the HSF4 Gene Is Associated With an Autosomal Recessive Congenital Cataract

Penetrating keratoplasty in children is a high risk transplantation. Indications increased with improvement of surgical techniques and therapies. Our purpose is to study anatomic and functional results of penetrating keratoplasty in children. We report the results of a retrospective study including 23 penetrating keratoplasties (22 eyes) performed in 20 patients younger than 16 years old, between 1991 and 2000 at the department of ophthalmology at Charles Nicolle University Hospital-Tunis. Penetrating keratoplasty was performed for congenital dystrophies in 6 cases (17.3%), for acquired traumatic opacities in 4 cases (26%) and for non traumatic acquired opacities in 13 cases (56.7%). Non traumatic acquired opacities were keratoconus in 8 cases (61.5%), keratitis in 3 cases (23%) and graft rejection in 2 cases (15.5%). The mean follow-up was 41.8 months. Grafts remained clear in 20 cases (83.3%). Graft rejection occurred in 4 cases. Graft failure occurred in 3 cases (16.6%). Mean postoperative visual acuity was 3/10 (ranging from 1/20 to 7/10). Penetrating keratoplasty in children allows a satisfying anatomic success but a moderate visual improvement. Amblyopia is the major obstacle to success in children corneal grafting.

Penetrating keratoplasty in children

Quel est le rôle des parasites et des levures dans la genèse des blépharites chroniques

We report three cases of optic disc drusen in children. The children were 5 months, 10 years, and 11 years old. Two of them were male. The optic disc drusen was unilateral in two cases and bilateral in one case. One child had a history of Down syndrome and another one a history of Alagille syndrome. The third child had no particular general history but he had unilateral high myopia with optic disc drusen in the same eye. Fundus examination showed pseudopapilledema in all three cases; the disc appeared elevated and its margins were blurred. Ultrasonography of the eye demonstrated optic disc drusen in the three cases. Optic disc calcification on CT scan was identified in only one case. In children, optic disc drusen are often buried, leading to pseudopapilledema appearance of the optic disc. Ultrasonography is highly sensitive in detecting optic disc drusen, making more expensive investigations unnecessary.

Les druses papillaires de l’enfant : à propos de 3 cas

The expression pattern of VEGF, p53 and ICAM-1 was studied in conjunctiva of diabetic patients with and without retinopathy. All patients underwent a complete ophthalmic examination, including retinal fluorescein angiography. Indirect immunoperoxidase method was performed on 20 eyes of 20 patients with type II diabetes without DR and on 5 eyes of 5 patients with PDR. A control study was performed on 6 normal conjunctiva undertaken during cataract surgery. Immunoreactivity of VEGF, p53 and ICAM-1 was found in epithelial, fibroblast and vascular endothelial cells. For the same duration of diabetes, a strong to moderate or weak immunoreactivity was observed in the conjunctiva of patients without retinopathy. In patients with PDR, the expression was strong for all these proteins. The immunoreactivity was correlated between VEGF, p53 and ICAM-1. In the normal conjunctiva, a weak to negative immunostaining was observed. The presence of these proteins in the conjunctiva of diabetic patients without retinopathy may add new data in the pathogenesis of diabetic retinopathy. Further studies are needed to confirm this hypothesis.

Immunohistochemical study of vascular endothelial growth factor (VEGF), tumor suppressor protein (p53) and intercellular adhesion molecule (ICAM-1) in the conjunctiva of diabetic patients

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