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To evaluate lower lid position and tear meniscus in peripheral idiopathic facial nerve palsy (FNP). A prospective study enrolled patients with peripheral idiopathic FNP and epiphora. Data were collected on patient demographics, House-Brackmann (HB) scale, digital photographs of the face, and tear meniscus at the 1st, 30, and 90 day after onset of FNP. Marginal reflex distance to the upper (MRD1) and lower eyelid (MRD2) were evaluated using ImageJ software. Anterior segment optical coherence tomography (OCT) was performed to measure the tear menis- cus. P<.05 was considered statistically significant. Sixteen patients were evaluated. The HB scale at presentation was grade III in six patients (37.5%). At 90 day, nine patients (56.25%) were grade I-normal. Three (18.7%) had upper lid retraction, three (18.7%) upper eyelid asymmetry and 7 (43.75%), lower eyelid retraction. The difference between MRD2-FNP with MRD2-healthy side was 0.51 ± 1.9 mm at the 1st visit, decreasing to 0.09 ± 1.47 mm at 90 days (P=.877). Tear meniscus measurements were significantly higher in FNP at the 1st visit (P=.001). The decrease in MRD2 was statistically correlated with the reduction of the tear meniscus area (TMA) (r = 0.67; P=.007) at 90 days. No correlation was found between HB and TMA. There is a difference in TMA between age groups at the 1st day(p=.009). Eldest group had higher HB scales. Quantitative evaluation of eyelid position and tear meniscus are effective to document the evolution of FNP and can serve as a clue of orbicularis recovery. [ABSTRACT FROM AUTHOR]

Purpose: To analyze the distribution of inherited retinal diseases (IRDs), describe the clinical characteristics of patients, and determine the percentages of patients with genetic diagnosis in the Castilla y Leon region of Spain. Methods: All patients with an IRD seen in the two major referral units of Castilla y Leon during a 20-year period were included. The ages at symptom onset, diagnosis, and the last visit; sex; family history; history of consanguinity; type of inheritance; status of the fundus and electroretinogram findings; lens and macular status, visual acuity; and visual field data were recorded. Patients were divided into those with retinitis pigmentosa (RP) and all others. Gene mutations were gathered when available. Results: Four hundred eighty-eight patients with IRDs were studied: 216 (44.26%) with RP of which 34 (15.74%) had syndromic diseases, and 272 had other conditions being 161 (59,19%) macular dystrophies. The mean delay in diagnosis was 6– 16.2 years respectively. For the RP group the mean age at the last visit was 47.96± 17,26; mean age of cataract surgery was 48.30 ± 12.01 years; and the foveal area was preserved in 74 (35.07%) patients, atrophic in 101 (47.87%), and edematous in 36 (17.06%). A genetic study had been performed in 58 (26.85%) of patients with RP and 71 (26,1%) of the rest, being indeterminate in 17 (29.31%) out of RP group and 20 (28.16%) out of the others. Conclusion: Clinical characteristics are comparable to other published series. There is a significant delay in diagnosis. The number of patients with IRDs and available genetic diagnosis, thus being possible candidates for undergoing personalized treatments including gene therapy in our region is low and must be improved. [ABSTRACT FROM AUTHOR]

Background: Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous disease causing progressive degeneration of retinal photoreceptor cells. The most severe form of this disease is X-linked RP (XLRP), in which photoreceptor degeneration begins in early childhood and complete blindness often occurs by the fourth decade of life. Two genes commonly associated with XLRP have been previously identified. Material and methods: One Spanish family with confirmed XLRP was studied for mutations using direct sequencing. A genotype-phenotype correlation with pathologic myopia (PM) is detailed. Results: A new pathogenic mutation in the third exon of the RP GTPase regulator (RPGR) was identified: a variant c212C>G (pSER71*). This mutation appears as a hemizygous variant in the male proband with RP, and as heterozygous variant in the females of this pedigree who invariably exhibit symmetrical PM in both eyes. Conclusion: A complete family history allowed determination of the inheritance pattern providing genetic counseling for patients and their families. The geno-phenotypic attributes of this heterozygosity suggest a correlation between RP and PM. This novel mutation would expand the mutation spectrum of RP2 and RPGR, and help to study molecular pathogenesis of RP. [ABSTRACT FROM AUTHOR]

Background To present the outcomes of the tarsal switch procedure using an anterior approach to correct severe ptosis with poor levator muscle function (<4 mm) with absent or poor Bell's phenomenon. Methods This retrospective case series included 11 patients with severe neurogenic or acquired myogenic palpebral ptosis. All patients underwent the tarsal switch procedure through an anterior approach from 2012 to 2015. Margin reflex distance (MRD1 and MRD2) and the palpebral fissure were evaluated preoperatively and postoperatively. Data were compared using the Wilcoxon signed-rank test. P-values <0.05 were considered to indicate statistical significance. Results Surgery was performed on 18 eyelids (11 patients). The median age at surgery was 57 years (range, 29-86 years). Four patients had unilateral ptosis and seven had bilateral ptosis. Nine patients had myogenic ptosis and two had neurogenic ptosis. Postoperatively, the chin-up position improved in all patients. The MRD1 increased statistically significantly, from 0 mm preoperatively to 1.0 mm postoperatively (P=0.001). The MRD2 decreased statistically significantly, from 4.5 mm preoperatively to 3.0 mm postoperatively (P=0.001). The palpebral fissure did not change (4.0 mm preoperatively to 4.0 mm postoperatively) (P=0.13). Conclusions The tarsal switch procedure through an anterior approach is an effective alternative for correcting severe ptosis, especially neurogenic or acquired myogenic ptosis. This procedure can be performed with minimal risk of ocular surface exposure and provides stable outcomes. [ABSTRACT FROM AUTHOR]

The article presents a study that describes a case of bilateral endogenous endophthalmitis due to Pseudomonas aeruginosa in a non-premature infant. Results show that intravitreal ceftazidime treatment and later vitrectomy could not prevent complete retina detachment (RD) and the progressive evolution to phthisis. The researchers conclude aggressive therapy could not prevent a poor outcome leading to RD and blindness in both eyes. Methods used and brief details on the results are discussed.

Over 175 pathogenic mutations in the Peripherin-2 (PRPH2) gene are linked to various retinal diseases. We report the phenotype and genotype of eight families (24 patients) with retinal diseases associated with seven distinct PRPH2 gene mutations. We identified a new mutation, c.824_828+3delinsCATTTGGGCTCCTCATTTGG, in a patient with adult-onset vitelliform macular dystrophy (AVMD). One family with the p.Arg46Ter mutation presented with the already described AVMD phenotype, but another family presented with the same mutation and two heterozygous pathogenic mutations (p.Leu2027Phe and p.Gly1977Ser) in the ATP Binding Cassette Subfamily A Member 4 (ABCA4) gene that cause extensive chorioretinal atrophy (ECA), which could be a blended phenotype. The p.Lys154del PRPH2 gene mutation associated with the p.Arg2030Glu mutation in the ABCA4 gene was found in a patient with multifocal pattern dystrophy simulating fundus flavimaculatus (PDsFF), for whom we considered ABCA4 as a possible modifying gene. The mutation p.Gly167Ser was already known to cause pattern dystrophy, but we also found ECA, PDsFF, and autosomal-dominant retinitis pigmentosa (ADRP) as possible phenotypes. Finally, we identified the mutation p.Arg195Leu in a large family with common ancestry, which previously was described to cause central areolar choroidal dystrophy (CACD), but we also found ADRP and observed that it caused ECA more frequently than CACD in this family. [ABSTRACT FROM AUTHOR]