Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus.

Keratoconus is a corneal dystrophy that is one of the main causes of corneal transplantation and for which there is currently no effective treatment for all patients. The presentation of this disease in pediatric age is associated with rapid progression, a worse prognosis and, in 15-20% of cases, the need for corneal transplantation. It is a multifactorial disease with genetic variability, which makes its genetic study difficult. Discovering new therapeutic targets is necessary to improve the quality of life of patients. In this manuscript, we present the results of whole-exome sequencing (WES) of 24 pediatric families diagnosed at the University Hospital La Paz (HULP) in Madrid. The results show an oligogenic inheritance of the disease. Genes involved in the structure, function, cell adhesion, development and repair pathways of the cornea are proposed as candidate genes for the disease. Further studies are needed to confirm the involvement of the candidate genes described in this article in the development of pediatric keratoconus.

Unilateral punctate keratitis secondary to Wallenberg Syndrome.

We studied three patients who developed left unilateral punctate keratitis after suffering left-sided Wallenberg Syndrome. A complex evolution occurred in two of them. In all cases, neurophysiological studies showed damage in the trigeminal sensory component at the bulbar level. Corneal involvement secondary to Wallenberg syndrome is a rare cause of unilateral superficial punctate keratitis. The loss of corneal sensitivity caused by trigeminal neuropathy leads to epithelial erosions that are frequently unobserved by the patient, resulting in a high risk of corneal-ulcer development with the possibility of superinfection. Neurophysiological studies can help to locate the anatomical level of damage at the ophthalmic branch of the trigeminal nerve, confirming the suspected etiology of stroke, and demonstrating that prior vascular involvement coincides with the location of trigeminal nerve damage. In some of these patients, oculofacial pain is a distinctive feature.

Apolipoprotein D expression in retinoblastoma.

The presence of apolipoprotein D (apoD) synthesis in brain suggests that this protein could play a major role in mediating neuronal degeneration and regeneration in the central nervous system (CNS). For instance, apoD is overexpressed in neural tissues in Niemann-Pick's type C disease, after acute CNS injury and cerebral ischemia, Alzheimer's disease and by a number of different tumors such as breast, prostate, ovarian and endometrial carcinomas. Recent data have raised the possibility that apoD expression could be a marker of cellular differentiation and growth arrest. By immunohistochemistry, we evaluated the tumoral expression of apoD in retinoblastoma, a tumor that results from malignant transformation of primitive retinal cells before final differentiation, and analyzed the possible relationship with clinicopathological parameters such as: age, sex, histological type, staging, local invasion, metastasis, preoperative or postoperative treatment and bilateral tumors. A total of eleven retinoblastomas (55%) showed apoD-positive immunostaining, but no significant correlation was found between apoD expression and patient or tumor characteristics.