An Ocular Protein Triad Can Classify Four Complex Retinal Diseases.

Retinal diseases generally are vision-threatening conditions that warrant appropriate clinical decision-making which currently solely dependents upon extensive clinical screening by specialized ophthalmologists. In the era where molecular assessment has improved dramatically, we aimed at the identification of biomarkers in 175 ocular fluids to classify four archetypical ocular conditions affecting the retina (age-related macular degeneration, idiopathic non-infectious uveitis, primary vitreoretinal lymphoma, and rhegmatogenous retinal detachment) with one single test. Unsupervised clustering of ocular proteins revealed a classification strikingly similar to the clinical phenotypes of each disease group studied. We developed and independently validated a parsimonious model based merely on three proteins; interleukin (IL)-10, IL-21, and angiotensin converting enzyme (ACE) that could correctly classify patients with an overall accuracy, sensitivity and specificity of respectively, 86.7%, 79.4% and 92.5%. Here, we provide proof-of-concept for molecular profiling as a diagnostic aid for ophthalmologists in the care for patients with retinal conditions.

Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile.

OBJECTIVE: Little is known about the long-term prevalence of elevated intracranial pressure (ICP), obstructive sleep apnoea (OSA), level of education, language and motor skills, impaired sight and hearing in craniosynostosis syndromes. The objective of this study was to define the prevalence per syndrome of elevated ICP, OSA, impaired sight and impaired hearing. METHODS: A retrospective study was undertaken on 167 consecutive patients diagnosed with Apert, Crouzon, Pfeiffer, Muenke or Saethre-Chotzen syndrome, aged 1-25 years and treated between 1983 and 2008. The mean age at time of referral and review was 1 years and 2 months and 10 years and 3 months, respectively. RESULTS: Patients with Apert and Crouzon/Pfeiffer syndromes had the highest prevalence of elevated ICP (33% and 53%, respectively) and OSA (31% and 27%, respectively), while Saethre-Chotzen syndrome was also associated with a fair risk for elevated ICP (21%). The prevalence of impaired sight (61%) and hearing (56%) was high in all syndromes. CONCLUSION: Based on these data, a syndrome-specific risk profile with suggestions for screening and treatment is presented.

Newborn with bilateral hazy corneas.

In this case report we present a preterm born baby with bilateral hazy corneas and initially normal intraocular pressures. After birth, the corneal opacification increased and a progressive buphthalmos became evident in the right eye. A trabeculectomy was performed in the right eye. Our final diagnosis was sclerocornea in combination with Peters' anomaly.

Influence of HLA-A, HLA-B, and HLA-DR matching on rejection of random corneal grafts using corneal tissue for retrospective DNA HLA typing.

AIM: To establish if coincidental HLA-A, HLA-B, and HLA-DR tissue matching is associated with a reduced likelihood of corneal graft rejection. METHODS: Organ culture preserved random donor corneas were used for penetrating keratoplasty (PKP). Corneal tissue from all graft recipients and donors or blood samples from recipients after repeated transplantation were obtained in order to perform retrospective molecular HLA typing. A group of 21 recipients with a rejection episode (cases) after corneal transplantation was compared with a control group of non-rejectors (n = 43). 31 graft recipients were considered as high risk patients. The influence of HLA-A, HLA-B, and HLA-DR matching on rejection free graft survival time was analysed with Kaplan-Meyer statistics and Cox regression. RESULTS: A prolonged rejection free survival time was observed in graft recipients with one or two HLA-A matches (log rank test, p = 0.034). This effect was also observed in high risk graft recipients with one or two HLA-DR matches (log rank test, p = 0.030). CONCLUSIONS: Coincidental HLA-A and HLA-DR matches were observed and associated with a prolonged rejection free survival time in the total group and in the high risk group, respectively. These results support the beneficial effect of prospective HLA-A and HLA-DR typing upon corneal graft survival.