PubMed · 13701297
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J FRANCOIS. 1960. Persistant hyperplastic primary vitreous.. https://pubmed.ncbi.nlm.nih.gov/13701297/
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The individual appearance of a person is mainly determined by the head and, in particular, by the eyes. The orbita exerts a decisive influence on the harmony of the face. Anomalies of the neuro- and viscerocranium have varying impact on the orbits as well as on the structures of the bulb, resulting in dysmorphia or dystopia of the orbits which, in turn, lead to corresponding functional impairments. Premature craniosynostoses, representing the most frequent craniofacial malformation, may have an influence on the region of the orbita in different manner. Symptomatics depend on localisation, number and severity of the synostoses. Main symptoms are uni- or bilateral exophthalmus as well as hypo- or hypertelorism. The deformation of the patients is not only a "cosmetic problem" but often also a barrier to social communication with all consequent impairments of the patient's development. Sometimes it is even the only reason for a mental retardation of the child. Apart from augmentation of the intracranial volume, the main aim of corrective surgery, therefore, is normalisation of the patient's appearance. There are various surgical procedures for operative correction. However, therapy is not only directed towards the orbita but has to be integrated into the overall concept for therapy of the disease. In this article we show the surgical approaches for the treatment of orbital malformations caused by various craniofacial malformations, using clinical examples.
UNLABELLED: Mutations in the LAMB2 gene encoding laminin beta2, a component of the glomerular basement membrane and the neuro-muscular junction are responsible for the characteristic renal and eye abnormalities of Pierson syndrome. We report a girl with confirmed LAMB2 mutation who presented with early onset Congenital Nephrotic Syndrome (CNS) with renal failure and ocular findings of bilateral microcoria, persistent hyperplastic primary vitreous, right microphtalmia and left eye cataract. Automated peritoneal dialysis was started from the 3rd month of life. Severe muscle hypotonia with motor and mental delay were observed during the first year of life. She experienced numerous serious infections from birth and died at the age of 15 months due to a fulminant infection. Genetic studies revealed two novel mutations in LAMB2 gene (compound heterozygosity). CONCLUSIONS: 1. Mutations in LAMB2 gene should be included in the work-up of patients with CNS in the presence of eye anomalies. 2. Severe phenotypes of Pierson syndrome are associated with marked handicaps and a poor outcome.
Focal dermal hypoplasia or Goltz syndrome is a rare genodermatosis, characterized by multiple abnormalities of ectodermal and mesodermal origin. It is found predominantly in females and is characterized by hypoplasia of skin and papillomas. Three cases of focal dermal hypoplasia in infancy with unusual inheritance patterns are reported. Cutaneous features were atrophic reticulated scars involving the trunk and extremities following the lines of Blaschko. Papillomas were present on the genitalia and in a periorificial distribution. Skeletal abnormalities included syndactyly, polydactyly and lobster claw deformities. Ophthalmological examination revealed strabismus and retinal colobomas.