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Abstract Background Corneal dystrophies (CDs) are a heterogeneous group of bilateral, genetically determined, noninflammatory bilateral corneal diseases that are usually limited to the cornea. CD is characterized by a large variability in the age of onset, evolution and visual impact and the accumulation of insoluble deposits at different depths in the cornea. Clinical symptoms revealed bilateral multiple superficial, epithelial, and stromal anterior granular opacities in different stages of severity among three patients of this family. A total of 99 genes are involved in CDs. The aim of this study was to identify pathogenic variants causing atypical corneal dystrophy in a large Moroccan family and to describe the clinical phenotype with severely different stages of evolution. Case presentation In this study, we report a large Moroccan family with CD. Whole-exome sequencing (WES) was performed in the three affected members who shared a phenotype of corneal dystrophy in different stages of severity. Variant validation and familial segregation were performed by Sanger sequencing in affected sisters and mothers and in two unaffected brothers. Whole-exome sequencing showed a novel heterozygous mutation (c.1772C > A; p.Ser591Tyr) in the TGFBI gene. Clinical examinations demonstrated bilaterally multiple superficial, epithelial and stromal anterior granular opacities in different stages of severity among three patients in this family. Conclusions This report describes a novel mutation in the TGFBI gene found in three family members affected by different phenotypic aspects. This mutation is associated with Thiel-Behnke corneal dystrophy; therefore, it could be considered a novel phenotype genotype correlation, which will help in genetic counselling for this family.

Loss of the cadherin FAT1 has been associated with nephropathy and epithelial cell adhesion defects. Here, the authors report five families with a syndromic form of coloboma associated with homozygous frameshift variants in FAT1 and recapitulate the phenotype in mutant mice and zebrafish.

Une contusion du globe peut se compliquer de rupture de la membrane de Bruch ou de la choroïde. Cette complication est observée dans 5 à 10% des cas avec une nette prédominance masculine. Nous rapportons l'observation clinique d'un patient de 26 ans, victime d'un traumatisme contusif sévère de l'éil gauche chez qui l'examen retrouve une rupture de la membrane de bruch au fond d'éil ; l'evolution spontanné a été marquée par une amélioration visuelle sans complications néovasculaires. Au cours des ruptures post traumatiques de la membrane de bruch le pronostic est essentiellement lié d'une part à sa localisation par rapport à la macula; et d'autre part à la survenue de complications néovasculaires (15 à 30 % des cas).

La dacryoadénite tuberculeuse est une inflammation rare de la glande lacrymale causé par le bacille Mycobacterium tuberculosis. Elle pose un problème étiopathogénique et diagnostique. Nous rapportons dans cette observation le cas d'une dacryoadénite tuberculeuse bilatérale chez un jeune homme Marocain de 34 ans ayant présenté une tuberculose ganglionnaire et du cavum il y à 14 ans, ayant été confirmé par l'examen anatomopathologique. La tuberculose reste un diagnostic qui doit être toujours évoqué même dans les atteinte bilatérale surtout si il y a un antécédent personnel ou familiale positif de tuberculose. Le pronostic de cette affection est devenu favorable grâce au traitement antibacillaire précoce.

The article describes the case of a 37-year-old female who presented with conjunctival venous malformations present since birth and complained of tearing, throbbing pain, and blurred vision following an apparent increase in size.