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.

Contrast sensitivity and disability glare in patients with dry eye.

PURPOSE: To evaluate contrast sensitivity and disability glare in patients with dry eye using the Contrast Glaretester 1000. METHODS: Contrast sensitivity and disability glare were determined in 33 eyes of 33 patients with dry eye and 30 eyes of 30 healthy control subjects for six target sizes with a visual angle of 6.3-0.7 degrees using the Contrast Glaretester 1000, whose working mechanism is similar to that of the conventional perimetry instrument. RESULTS: Contrast sensitivity was significantly worse in dry eye group when viewing all target sizes (reduction of 0.10-0.25 log contrast units, p < 0.01) except at 6.3 degrees. In the presence of glare, differences in log contrast sensitivity between the groups (0.10-0.25 units) were significant (p < 0.01) for all target sizes, with the dry eye group showing worse results. The reduction in contrast sensitivity induced by glare (disability glare) was significantly worse in the dry eye group versus the control group but only for the 2.5-degree size target, where 0.14 log contrast units were lost. CONCLUSIONS: Contrast sensitivity with and without glare was significantly reduced in patients with dry eye compared with control subjects, but the number of log contrast units lost with glare (disability glare) was similar in the two groups, except for the 2.5-degree size target.