Pediatric vulvar lichen sclerosus: Does it resolve or does it persist after menarche?

BACKGROUND AND OBJECTIVES: Although data regarding the rates of remission and progression of the disease are still scarce, it is generally now acknowledged that pediatric vulvar lichen sclerosus (pVLS) can persist beyond puberty. Recent studies reveal that this condition may persist in as many as 75% of cases. The present study aims to answer the following query: how does pVLS evolve after menarche? METHODS: This observational retrospective study conducted on premenarchal girls diagnosed with pVLS in our institution between 1990 and 2011 describes 31 patients who returned for multidisciplinary clinical evaluation following menarche. RESULTS: The mean follow-up time was 14 years. At the post-menarche clinical examination, patients were classified as follows: 58% were still affected by VLS, 16% presented with a complete remission of disease, and 26% were completely asymptomatic although with persistent clinical signs of VLS. CONCLUSIONS: In our series, pVLS persists following menarche in the majority of patients. These findings suggest the importance of a long-term follow-up even among patients who report resolution of symptoms following menarche.

Usher syndrome in a patient with Ellis-van Creveld syndrome.

PURPOSE: To describe a case of Ellis-van Creveld syndrome with concomitant Usher syndrome. METHODS: A 24-year-old lady with a diagnosis of Ellis-van Creveld syndrome came to our attention in 2015 complaining of nyctalopia. She underwent yearly ophthalmologic examinations, including visual acuity, dilated fundoscopy, optical coherence tomography and colour fundus photography. RESULTS: On the day of her first examination, her visual acuity was 20/20, whereas fundus examination revealed diffuse peripheral retinal atrophy with pigmented bone spicules, waxy pallor of the disc and macular sparing in both eyes, compatible with retinitis pigmentosa. Due to the severe retinitis pigmentosa phenotype for the age and the concomitant neurosensory hearing loss, ancillary electrophysiological and genetic tests were requested. At the end of follow-up, visual function remained stable, with electroretinogram tests confirming the peripheral dysfunction. Interestingly, next generation sequencing test revealed a mutation in USH2A gene, suggestive of an overlapping Usher syndrome. On optical coherence tomography angiography, all plexuses appeared altered, with some degree of impairment also in the choriocapillaris of the spared macula. CONCLUSION: Our report emphasizes the advantage of new genetic tests to investigate atypical presentations of known retinal disorders found in syndromic settings. In addition, we speculate that the underlying ciliopathy might possibly aggravate the phenotype of this case of Usher syndrome.

Identification of hyperreflective foci in angioid streaks.

AIMS: To assess hyperreflective foci (HF) number in angioid streaks (AS) by means of spectral-domain optical coherence tomography (SD-OCT). METHODS: Observational and cross-sectional study. Sixty-two eyes with AS and 62 controls underwent best-corrected visual acuity (BCVA), fundoscopy, and SD-OCT. HF were assessed on the horizontal scan of a six-line radial OCT, in the fovea (1500-µm diameter) and parafovea (500 µm external to the fovea), and sub-classified as retinal or choroidal, small or large. Eyes were distributed in one of four groups, as carrying foveal AS without choroidal neovascularization (CNV) (14 eyes), extra-foveal AS without CNV (14), active CNV (20), and inactive CNV (14). Primary outcome was HF assessment in AS. Secondary outcomes included their correlations with BCVA. RESULTS: AS-affected eyes had higher HF numbers. Our sub-analysis revealed that patients with active CNV had a larger number of retinal and choroidal HF than all the other groups, whereas retinal and choroidal foci were significantly increased in inactive CNV only with respect to controls. Interestingly, patients with foveal AS showed HF number increase in the choroid and fovea. BCVA deterioration positively correlated with the total HF number found in the fovea and the choroid. CONCLUSION: HF are significantly increased in patients with AS. Despite being especially evident in active CNV, the increasing number in eyes without CNV might suggest new pathogenetic aspects of the disease.

Cystic roof collapse after intravitreal injection of dexamethasone implant, a case report.

INTRODUCTION: Disorders of vitreoretinal interface represent a rare complication of intravitreal dexamethasone implant injection. Our report describes a new mechanism resulting in cystic roof collapse and emphasizes the importance of a strict optical coherence tomography evaluation during therapy with dexamethasone injection in order to prevent this rare complication. PURPOSE: To describe the rupture of the cystic roof following treatment with sustained-release dexamethasone implant intravitreal injection (Ozurdex; Allergan, Irvine) for macular edema. CASE REPORT: A 71-year-old woman with a known history of macular edema secondary to central retinal vein occlusion in her right eye presented to our ophthalmology department complaining of vision loss after she underwent the fourth dexamethasone injection. Diffuse retinal hemorrhages and a reddish foveal lesion with hyperpigmented borders were observed on dilated fundus examination. On the other hand, spectral domain optical coherence tomography (Spectralis HRA + OCT, Heidelberg Engineering, Germany) revealed the roof dismantlement of a previously documented cyst, giving rise to a lamellar macular hole, with a stable epiretinal membrane in close proximity. On a 12-month follow-up, no anatomical or functional changes were observed. CONCLUSION: This report depicts a new mechanism leading to macular hole as a complication of numerous intravitreal dexamethasone injections, resulting in cystic roof collapse. Although we acknowledge the rarity of this complication, our case emphasizes the role of constant spectral domain optical coherence tomography evaluation of the vitreoretinal interface, even in long-standing macular edema without marked signs of vitreous traction.

Choroidal Neovascularization in Torpedo Maculopathy Assessed on Optical Coherence Tomography Angiography.

Torpedo maculopathy is characterized by a congenital, unilateral, and torpedo-shaped chorioretinal lesion with unclear pathogenesis and evolution. Although the optical coherence tomography angiography (OCTA) characteristics have already been defined in literature, the authors describe for the first time the presence of choroidal neovascularization (CNV) on the temporal edge of this lesion in a 36-year-old woman with a history of altered visual field in her left eye. The authors' investigation supports the hypothesis of an aberrant choroidal circulation underlying the pathogenesis of this condition, and proves the advantage conferred by OCTA in CNV detection over the other angiographic techniques. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:e210-e213.].