To identify the underlying locus and diseasecausing mutation for adult-onset autosomal dominant leukodystrophy (ADLD).Design: Previously, an adult-onset ADLD locus on chromosome 5q23 was mapped between markers D5S1495 and CTT/CCT15. This region contains 13 known and putative candidate genes. A 2-point linkage analysis confirmed linkage of a large multigenerational French Canadian family to chromosome 5q23. In addition, screening of the 13 genes within the candidate interval as well as 5 neighboring genes was completed, followed by comparative genomic hybridization.Subjects: A multigenerational French Canadian family with ADLD mimicking progressive multiple sclerosis was identified and studied. Eight affected family members were available for the study and presented with autonomic dysfunction as well as upper motorneuron signs affecting gait. Results:The thorough candidate gene approach did not identify any mutation. Consequently, a whole-chromosome comparative genomic hybridization for chromosome 5 identified a 280-kilobase duplication within the chromosomal band 5q23.2 in 2 affected individuals. This duplication contains 3 genes: LMNB1, FLJ36242, and MARCH3. Conclusion:We have identified a novel duplication on chromosomal band 5q23.2 in a French Canadian family with ADLD that supports the implication of duplicated LMNB1 as the disease-causing mutation. However, additional functional studies of lamin B1 overexpression are necessary to elucidate the involvement of lamin B1 in myelination and in degenerative disorders such as ADLD and multiple sclerosis.

Fingertip trauma with resultant bony loss is optimally reconstructed with an autologous bone substitute, offering a unique opportunity for use of a local vascularized bone graft. The second dorsal metacarpal artery is well-described for use in soft tissue and bony reconstruction, with recent cadaveric studies suggesting a reverse-flow second dorsal metacarpal artery bone flap could reach defects in the distal phalanx. The aim of the current report is to illustrate the use of this technique in reconstructing the distal digit in a traumatized index finger with bony loss of the middle third of the distal phalanx. A 49-year-old man presented with a traumatic circular saw injury to his left index finger, with the unique finding of distal phalanx bony loss to the middle third of this bone, with no associated disruption of palmar or dorsal structures. Reconstructive goals were solely that of bony reconstruction, with no soft tissue coverage required. A reverse SDMA vascularized bone flap was successfully used for reconstruction, with the vascularized bone flap mobilized on its reverse SDMA pedicle and pivoted at the level of the distal anastomoses between the palmar and dorsal metacarpal arteries. There was uncomplicated donor and recipient site closures, and good functional outcomes with the ability to retain full distal interphalangeal joint motion and force on distal pinch grip. This case shows that the reverse second dorsal metacarpal artery vascularized bone flap may be undertaken to reconstruct bony loss in the distal phalanx.

REFERENCES1. Kawasaki R, Wang JJ, Rochtchina E, Lee AJ, Wong TY, Mitchell P. Retinal vessel caliber is associated with the 10-year incidence of glaucoma: the Blue Mountains Eye Study. Ophthalmology 2013; 120: 84-90. 2. Sugiyama T, Araie M, Riva CE, Schmetterer L, Orgul S. Use of laser speckle flowgraphy in ocular blood flow research. Acta Ophthalmol (Copenh) 2010; 88: 723-9. 3. Aizawa N, Yokoyama Y, Chiba N et al. Reproducibility of retinal circulation measurements obtained using laser speckle flowgraphy-NAVI in patients with glaucoma. Clin Ophthalmol 2011; 5: 1171-6. 4. Aizawa N, Kunikata H, Yokoyama Y, Nakazawa T. Correlation between optic disc microcirculation in glaucoma measured with laser speckle flowgraphy and fluorescein angiography, and the correlation with mean deviation. Clin Experiment Ophthalmol 2014; 42: 293-4. 5. Shiga Y, Omodaka K, Kunikata H et al. Waveform analysis of ocular blood flow and the early detection of normal tension glaucoma. Inv Ophth Vis Sci 2013; 54: 7699-706.One-step reconstruction of large lower eyelid defects: technique and outcomesModerate to large lower eyelid defects following skin cancer excision or trauma present a challenge for the reconstructive surgeon. A myriad of techniques have been described in the literature; however, the goal remains to replace the missing anatomical layers and restore lower eyelid form and function. For the purpose of reconstruction, the lower eyelid is often divided into anterior and posterior lamellae: the posterior lamella, comprising tarsus and conjunctiva, provides protection to the eye by preventing conjunctival drying, providing a mechanical barrier to trauma and facilitating atraumatic eyelid closure with its lubricated, smooth surface. The anterior lamella, comprising skin and orbicularis oculi, provides an additional barrier and also facilitates eyelid movement. Large defects of the Competing/conflicts of interest: No stated conflict of interest. Funding sources: No stated funding sources.Figure 2. Box plot of vessel pixel count in the four study groups. Outlying values are included as small dots. The asterisks indicate statistically significant differences with normal eyes (Kruskal-Wallis test, followed by Steel-Dwass test; *P < 0.05, **P < 0.01).Figure 3. Box plot of area ratio of blood stream (ARBS) in the four study groups. Outlying values are included as small dots.The asterisks indicate statistically significant differences with normal eyes (Kruskal-Wallis test, followed by Steel-Dwass test; *P < 0.05; **P < 0.01).