New ZNF469 Mutations in Spanish Siblings With Brittle Cornea Syndrome.

PURPOSE: The aim of this study was to describe the clinical, tomographic, and genetic findings of 2 Spanish siblings with brittle cornea syndrome and report a new mutation of gene ZNF469 implicated in the development of this disorder. METHODS: In this study, 2 male siblings who had been diagnosed with brittle cornea syndrome underwent ophthalmologic and genetic assessment. RESULTS: A novel homozygous deletion c.2972del, p.(Pro991Hisfs62) in the ZNF469 gene was identified in a Spanish family. CONCLUSIONS: This is the first report of a ZNF469 mutation in a Spanish family causing brittle cornea syndrome. The discovery of this new mutation amplifies the spectrum of ZNF469 variants implicated in this syndrome.

Congenital hypertrophy of the retinal pigment epithelium associated with acquired retinoschisis and microcystic degeneration: The importance of multimodal imaging.

We present an illustrated clinical case with multimodal representation of a congenital hypertrophy of the depigmented retinal pigment epithelium (CHRPE) associated with acquired retinoschisis and microcystic degeneration (MD) in a 64-year-old hypermetropic, asymptomatic woman. Retinography showed a whitish lesion with pigmented edges, slightly raised, accompanied by a lower area with a microcystic pattern. The complementary tests carried out allowed to determine a well-defined diagnosis of exclusion. B-mode ultrasound showed a smooth, cupuliform and cystic elevation characteristic of acquired retinoschisis, and fluorescein angiography could rule out the presence of a vascular tumor. The hypoautofluorescence of the lesion determined the depigmentation of the CHRPE, while the slight perilesional hyperautofluorescence corresponded to the associated retinoschisis and DM. This is the first case described in the literature of an acquired retinoschisis associated with CHRPE.

Congenital hypertrophy of the retinal pigment epithelium associated with acquired retinoschisis and microcystic degeneration: The importance of multimodal imaging. / Hipertrofia congénita del epitelio pigmentario de la retina asociada a retinosquisis adquirida y degeneración microquística: La importancia del estudio con imagen multimodal.

We present an illustrated clinical case with multimodal representation of a congenital hypertrophy of the depigmented retinal pigment epithelium (CHRPE) associated with acquired retinoschisis and microcystic degeneration (MD) in a 64-year-old hypermetropic, asymptomatic woman. Retinography showed a whitish lesion with pigmented edges, slightly raised, accompanied by a lower area with a microcystic pattern. The complementary tests carried out allowed to determine a well-defined diagnosis of exclusion. B-mode ultrasound showed a smooth, cupuliform and cystic elevation characteristic of acquired retinoschisis, and fluorescein angiography could rule out the presence of a vascular tumor. The hypoautofluorescence of the lesion determined the depigmentation of the CHRPE, while the slight perilesional hyperautofluorescence corresponded to the associated retinoschisis and DM. This is the first case described in the literature of an acquired retinoschisis associated with CHRPE.

Internal limiting membrane graft as a treatment for the retinal detachment secondary to an optic disc coloboma.

PURPOSE: To report our anatomical outcome with the internal limiting membrane (ILM) graft procedure in the management of rhegmatogenous retinal detachment (RRD) secondary to optic disc coloboma (ODC). METHODS: Description of a new surgical procedure in one eye of one patient who underwent pars plana vitrectomy (PPV) combined with ILM graft technique. Subsequent follow-up included optical coherence tomography (OCT) and visual acuity. RESULTS: After only 1 week, the OCT revealed the ILM graft plugging the retinal tear with complete resorption of subretinal fluid. The sealing effect of this graft persisted after 6 months. However, visual outcome was poor and corrected distance visual acuity was 20/200 as a result of the previous long-standing retinal detachment with loss of photoreceptors. CONCLUSION: We suggest that ILM graft could be performed as a first line treatment in the management of RRD secondary to ODC. This direct closure of the retinal tears, allows a quick and effective interruption of the communication between the subretinal space and the vitreous cavity. Detecting these retinal tears and applying this technique as soon as possible could achieve not only an earlier anatomical success but obtain good visual results in retinal tears with RRD secondary to ODC. Further studies will be necessary to provide more evidences.

Correction: Bacterial nanocellulose as a corneal bandage material: a comparison with amniotic membrane.

Correction for 'Bacterial nanocellulose as a corneal bandage material: a comparison with amniotic membrane' by Irene Anton-Sales et al., Biomater. Sci., 2020, 8, 2921-2930, DOI: .

Bacterial nanocellulose as a corneal bandage material: a comparison with amniotic membrane.

Corneal trauma and ulcerations are leading causes of corneal blindness around the world. These lesions require attentive medical monitoring since improper healing or infection has serious consequences in vision and quality of life. Amniotic membrane grafts represent the common solution to treat severe corneal wounds. However, amniotic membrane's availability remains limited by the dependency on donor tissues, its high price and short shelf life. Consequently, there is an active quest for biomaterials to treat injured corneal tissues. Nanocellulose synthetized by bacteria (BNC) is an emergent biopolymer with vast clinical potential for skin tissue regeneration. BNC also exhibits appealing characteristics to act as an alternative corneal bandage such as; high liquid holding capacity, biocompatibility, flexibility, natural - but animal free-origin and a myriad of functionalization opportunities. Here, we present an initial study aiming at testing the suitability of BNC as corneal bandage regarding preclinical requirements and using amniotic membrane as a benchmark. Bacterial nanocellulose exhibits higher mechanical resistance to sutures and slightly longer stability under in vitro and ex vivo simulated physiological conditions than amniotic membrane. Additionally, bacterial nanocellulose offers good conformability to the shape of the eye globe and easy manipulation in medical settings. These excellent attributes accompanied by the facts that bacterial nanocellulose is stable at room temperature for long periods, can be heat-sterilized and is easy to produce, reinforce the potential of bacterial nanocellulose as a more accessible ocular surface bandage.