Methotrexate Monotherapy in Juvenile Idiopathic Arthritis Associated Uveitis: Myth or Reality?

OBJECTIVE: To evaluate the long-term efficacy of methotrexate (MTX) monotherapy in patients with juvenile idiopathic arthritis-associated uveitis (JIA-U). METHODS: We analyzed a cohort of patients with JIA-U treated with MTX monotherapy, divided into two groups depending on whether MTX was started before (on-MTX group) or after uveitis diagnosis (MTX-naïve group). The primary endpoint was the time between uveitis inactivity and first relapse. RESULTS: 84 patients entered the study. The median duration of remission on MTX monotherapy resulted 8.2 months. The on-MTX group showed a significant longer time interval between arthritis and uveitis onset and higher need for biologic agents (bDMARD). During follow-up, 40 patients (47.6%) needed bDMARD due to poor control of uveitis. Clinical remission off medication was achieved in 11.9% of patients, all belonging to the MTX-naïve group. CONCLUSIONS: MTX monotherapy, although effective in early stages of JIA-U, showed poor disease control in the long term.

Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene.

Autosomal dominant optic atrophy (DOA) is the most frequent form of hereditary optic atrophy, a disease presenting with considerable inter- and intra-familial clinical variability. Although a number of mutations in different genes are now known to cause DOA, many cases remain undiagnosed. In an attempt to identify the underlying genetic defect, whole exome sequencing was performed in a 19-year-old male that had been affected by isolated DOA since childhood. The exome sequencing revealed a pathogenic mutation (p.R468C, c.1402C>T) in the AFG3 like matrix AAA peptidase subunit 2 (AFG3L2) gene, a gene known to be associated with spinocerebellar ataxia. The patient did not show any signs other than DOA. Thus, the result demonstrates the possibility that mutations in the AFG3L2 gene may be a cause of isolated autosomal DOA.

Visual, motor, and psychomotor development in small-for-gestational-age preterm infants.

PURPOSE: To study causal links between the visual, cognitive, and psychomotor outcomes of premature babies who are small for gestational age (SGA). METHODS: A cohort study of 17 SGA cases and 34 controls who were appropriate for gestational age (AGA) was carried out. The cases were all premature babies without any other pathology. All subjects underwent a visual, mental, and psychomotor evaluation at 1 year of age. RESULTS: Of the SGA cases, 41% had a "below normal" visual acuity versus 17.7% of the AGA controls. At 1 year of age the SGA babies showed an odds ratio of 18.73 for low visual acuity, 9.09 for low mental performance, and no significant risk for a decreased psychomotor performance. CONCLUSIONS: In this small cohort of premature infants, the SGA babies were more prone to developing low visual performance and abnormal cognitive development.

Illusory contours over pathological retinal scotomas.

Our visual percepts are not fully determined by physical stimulus inputs. Thus, in visual illusions such as the Kanizsa figure, inducers presented at the corners allow one to perceive the bounding contours of the figure in the absence of luminance-defined borders. We examined the discrimination of the curvature of these illusory contours that pass across retinal scotomas caused by macular degeneration. In contrast with previous studies with normal-sighted subjects that showed no perception of these illusory contours in the region of physiological scotomas at the optic nerve head, we demonstrated perfect discrimination of the curvature of the illusory contours over the pathological retinal scotoma. The illusion occurred despite the large scar around the macular lesion, strongly reducing discrimination of whether the inducer openings were acute or obtuse and suggesting that the coarse information in the inducers (low spatial frequency) sufficed. The result that subjective contours can pass through the pathological retinal scotoma suggests that the visual cortex, despite the loss of bottom-up input, can use low-spatial frequency information from the inducers to form a neural representation of new complex geometrical shapes inside the scotoma.

D-dimer evaluation of hemorrhagic orbital lymphangioma.

An 8-year-old boy with recurrent acute bleeding of lymphangioma of the left orbit is described. D-dimer levels increased as the size of the mass became stable, showing the effect of fibrinolysis within the hemorrhagic mass after clotting. D-dimer levels confirmed the possible use of conservative management of this lymphangioma.